Rett’s syndrome Health Dictionary

Rett’s Syndrome: From 2 Different Sources


A brain disorder, thought to be a genetic disorder, that only affects girls. Symptoms usually occur when the child is 12–18 months old. Acquired skills, such as walking and communication skills, disappear and the girl becomes progressively handicapped, perhaps with signs of autism. There are repetitive writhing movements of the hands and limbs, and inappropriate outbursts of crying or laughter. There is no cure for Rett’s syndrome and sufferers need constant care and attention. Parents of an affected child should receive genetic counselling.
Health Source: BMA Medical Dictionary
Author: The British Medical Association
a disorder affecting young girls, in which stereotyped movements (see stereotypy) and social withdrawal appear during early childhood. Intellectual development is often impaired and special educational help is needed. The condition is inherited as an X-linked (see sex-linked) dominant characteristic. [A. Rett (1924–97), Austrian paediatrician]
Health Source: Oxford | Concise Colour Medical Dictionary
Author: Jonathan Law, Elizabeth Martin

Chronic Fatigue Syndrome

(CFS) is a recently designated semi-disease, often attributed to EBV (the Epstein-Barr virus) or CMV (Cytomegalovirus) infections, characterized by FUOs (Fevers of Unknown Origin) and resulting in the patient suffering FLS (Feels Like Shit). In most of us, the microorganisms involved in CFS usually provoke nothing more than a head cold; in some individuals, however, they induce a long, grinding, and debilitating disorder, characterized by exhaustion, depression, periodic fevers...a crazy-quilt of symptoms that frustrates both the sufferer and the sometimes skeptical physician. MCS (Multiple Chemical Sensitivities) are another syndrome that is often lumped with CFS, and they may often be two faces of the same condition. I am not using all these acronyms to mock the conditions, but as an irony. There is too much (Acronym Safety Syndrome) in medicine, reducing complex and frustrating conditions to insider’s techno-babble, somehow therein trivializing otherwise complex, painful and crazy-making problems. The widest use of acronyms (AIDS, HIV, CFS, MCS, MS etc.) seems to be for diseases hardest to treat, least responsive to procedural medicine, and most depressing to discuss with patients or survivors.... chronic fatigue syndrome

Dumping Syndrome

A sensation of weakness and sweating after a meal in patients who have undergone GASTRECTOMY. Rapid emptying of the stomach and the drawing of ?uid from the blood into the intestine has been blamed, but the exact cause is unclear.... dumping syndrome

Syndrome

A pattern of symptoms and signs, appearing one by one or simultaneously, that together characterise a particular disease or disorder.... syndrome

Adrenogenital Syndrome

An inherited condition, the adrenogenital syndrome – also known as congenital adrenal hyperplasia – is an uncommon disorder affecting about 1 baby in 7,500. The condition is present from birth and causes various ENZYME defects as well as blocking the production of HYDROCORTISONE and ALDOSTERONE by the ADRENAL GLANDS. In girls the syndrome often produces VIRILISATION of the genital tract, often with gross enlargement of the clitoris and fusion of the labia so that the genitalia may be mistaken for a malformed penis. The metabolism of salt and water may be disturbed, causing dehydration, low blood pressure and weight loss; this can produce collapse at a few days or weeks of age. Enlargement of the adrenal glands occurs and the affected individual may also develop excessive pigmentation in the skin.

When virilisation is noted at birth, great care must be taken to determine genetic sex by karyotyping: parents should be reassured as to the baby’s sex (never ‘in between’). Blood levels of adrenal hormones are measured to obtain a precise diagnosis. Traditionally, doctors have advised parents to ‘choose’ their child’s gender on the basis of discussing the likely condition of the genitalia after puberty. Thus, where the phallus is likely to be inadequate as a male organ, it may be preferred to rear the child as female. Surgery is usually advised in the ?rst two years to deal with clitoromegaly but parent/ patient pressure groups, especially in the US, have declared it wrong to consider surgery until the children are competent to make their own decision.

Other treatment requires replacement of the missing hormones which, if started early, may lead to normal sexual development. There is still controversy surrounding the ethics of gender reassignment.

See www.baps.org.uk... adrenogenital syndrome

Blind Loop Syndrome

A disorder in which abnormal FAECES occur as a result of a redundant loop in the small INTESTINE. The loop obstructs the normal ?ow of the contents of the bowel, causing stagnation. The syndrome is characterised by light-yellow, smelly, fatty, bulky faeces. The patient suffers from tiredness, malaise and loss of weight. Previous abdominal surgery is sometimes the cause, but the condition can be inherited. Blockage of intestinal contents upsets the bowel’s normal bacterial balance and hinders the normal absorption of nutrients. Treatment is either with antibiotics or, if that fails, surgery.... blind loop syndrome

Crush Syndrome

A condition in which kidney failure occurs in patients who have been the victims of severe crushing accidents (see also KIDNEYS). The fundamental injury is damage to muscle. The limb swells. The blood volume falls. Blood UREA rises; there is also a rise in the POTASSIUM content of the blood. Urgent treatment in an intensive therapy unit is required and renal dialysis may well be necessary. The patient may survive; or die with renal failure. Post-mortem examination shows degeneration of the tubules of the kidney, and the presence in them of pigment casts.... crush syndrome

Guillain-barré Syndrome

A disease of the peripheral nerves causing weakness and numbness in the limbs. It customarily occurs up to three weeks after an infection – for example, CAMPYLOBACTER infection of the gastrointestinal tract provoking an allergic response in the nerves. It may begin with weakness of the legs and gradually spread up the body. In the worst cases the patient may become totally paralysed and require to be arti?cially ventilated. Despite this, recovery is the rule.... guillain-barré syndrome

Gulf War Syndrome

A collection of varying symptoms, such as persistent tiredness, headaches, muscle pain and poor concentration, reported by members of the Coalition Armed Forces who served in the 1991 Gulf War. Whilst there is strong evidence for a health e?ect related to service, there is no evidence of a particular set of signs and symptoms (the de?nition of a ‘syndrome’) unique to those who served in the Gulf War. Symptoms have been blamed on multiple possible hazards, such as exposure to depleted uranium munitions, smoke from oil-well ?res and use of pesticides. However, the only clearly demonstrated association is with the particular pattern of vaccinations used to protect against biological weapons. Many con?icts in the past have generated their own ‘syndromes’, given names such as e?ort syndrome and shell-shock, suggesting a link to the psychological stress of being in the midst of warfare.... gulf war syndrome

Irritable Bowel Syndrome

(IBS) This is a common and generally benign condition of the colon, taking different forms but usually characterized by alternating constipation and diarrhea. There is often some pain accompanying the diarrhea phase. The bowel equivalent of spasmodic asthma, its main cause is stress, often accompanied by a history of GI infections. Adrenalin stress slows the colon and causes constipation, followed by a cholinergic rebound overstimulation of the colon. It is also called spastic colon, colon syndrome, mucous colitis, even chronic colitis. True colitis is a potentially or actually serious pathology.... irritable bowel syndrome

Nephrotic Syndrome

Nephrotic syndrome is one of PROTEINURIA, hypo-albuminaemia and gross OEDEMA. The primary cause is the leak of albumin (see ALBUMINS) through the GLOMERULUS. When this exceeds the liver’s ability to synthesise albumin, the plasma level falls and oedema results. The nephrotic syndrome is commonly the result of primary renal glomerular disease (see KIDNEYS, DISEASES OF – Glomerulonephritis). It may also be a result of metabolic diseases such as diabetic glomerular sclerosis and AMYLOIDOSIS. It may be the result of systemic autoimmune diseases such as SYSTEMIC LUPUS ERYTHEMATOSUS (SLE) and POLYARTERITIS NODOSA. It may complicate malignant diseases such as MYELOMATOSIS and Hodgkin’s disease (see LYMPHOMA). It is sometimes caused by nephrotoxins such as gold or mercury and certain drugs, and it may be the result of certain infections such as MALARIA and CROHN’S DISEASE.... nephrotic syndrome

Premenstrual Syndrome

This has been de?ned as ‘any combination of emotional or physical features which occur cyclically in a woman before MENSTRUATION, and which regress or disappear during menstruation’. It is characterised by mood-changes, discomfort, swelling and tenderness in the breasts, swelling of the legs, a bloated feeling in the abdomen, headache, fatigue and constipation. The mood-changes range from irritability and mild depression to outbursts of violence. It may last for 3–14 days. How common it is is not known, as only the more severe cases are seen by doctors, but it has been estimated that one in ten of all menstruating women suffer from it severely enough to require treatment. The cause is not known, but it is probably due to some upset of the hormonal balance of the body. In view of the multiplicity of causes that have been put forward, it is not surprising that there is an equal multiplicity of treatments. Among these, one of the most widely used is PROGESTERONE. Others include pyridoxine, danazol, and gamma linolenic acid available in the form of oil of evening primrose. Whatever drug may be prescribed, counselling is equally essential and, in many cases, is all that is required.... premenstrual syndrome

Slapped Cheek Syndrome

See ERYTHEMA – Erythema infectiosum.... slapped cheek syndrome

Toxic Shock Syndrome

First described in 1978, this disorder is characterised by high fever, diarrhoea, SHOCK and a rash. It is frequently associated with the use of tampons (see TAMPON), but has occasionally been reported in men. The syndrome may also be linked to the use of contraceptives such as the diaphragm, cap and sponge (see under CONTRACEPTION), and skin wounds or infections may also be a cause. The disease is due to a staphylococcal toxin (see STAPHYLOCOCCUS; TOXINS). Treatment consists of supportive measures to combat shock and eradication of the staphylococcus by ANTIBIOTICS. The design of tampons has been improved. Recurrence of the disorder has been reported and women who have had an episode should stop using tampons and vaginal contraceptives.... toxic shock syndrome

Cushing’s Syndrome

A glandular disorder occurring mostly in females, aged 30 to 50.

Causes: a tumour on the adrenal glands or excessive medication with large doses of corticosteroid drugs to make up for adrenal insufficiency. There is diminished resistance to infection. (Echinacea)

Symptoms. Fat plethoric ‘moon’ face. Limbs thin, trunk obese. Skin easily bruises (Arnica). Fatigue, weakness, pink streaks on skin. Cessation of menstruation. Loss of sex drive in men. High blood pressure and sugar in the urine are common. Bone softening leads to pain. Acne (Agnus Castus). Excess body hair. Personality change.

Treatment. Adrenal stimulants may obviate surgery or irradiation to the adrenal glands: they include Ginseng, Liquorice, Sarsaparilla, Holy Thistle (Hyde), Samphire (Hyde).

Men. Tinctures. Formula. Ginseng 3; Sarsaparilla 2; Liquorice 1. One to two teaspoons in water thrice daily.

Women. Tinctures. Formula. Agnus Castus 2; Helonias 2; Pulsatilla 1. One to two teaspoons in water thrice daily.

Good responses have been observed from Pulsatilla and Black Cohosh. ... cushing’s syndrome

Down’s Syndrome

Mongolism. Trisomy 21. Not a disease but a defect in mental and physical development. In the normal human being there are 46 chromosomes; in Down’s there are 47 – one extra No 21 chromosome. The syndrome increases with the age of the mother after the age of 35. Over the age of 40 the chances of a mother having such a child are 1-2 per cent. Children with the defect have low levels of zinc.

Cases of Down’s have followed use of nonoxynol-9 (vaginal contraceptive device) such as the polyurethane sponge. The sponge. when left in situ for a long time, may cause Down’s to follow.

Certain physical characteristics are present. The most important feature is impaired mental development. Almost all are coeliacs.

Symptoms. Low IQ, short fingers, small flat head, flattened nose, low-set ears. May be subject to umbilical hernia, and heart disease. No treatment can cure, but certain herb teas rich in minerals (Alfalfa, Red Clover) together with Kelp (either in tablet or powder form) may help children, with possible improvements in IQ. Vitamin supplements – A, D, Thiamine, Riboflavin, B6, B12, C and E improve a child’s physical and mental health – as do also the minerals: Magnesium, Calcium, Zinc, Manganese, Copper, Iron and Iodine.

Children with Down’s syndrome run an increased risk of coeliac disease, due to disturbed immunity. A substantial evidence is held in America that links a low level of Selenium in the mother. Unnecessary X- rays should be avoided. Ensure fitness before conception by gentle exercise and nutrients: Folic Acid, Selenium and Zinc.

Children with the condition are noted for their happy disposition and warmth of feeling towards others. ... down’s syndrome

Marfan’s Syndrome

A collagen disease in infants (hereditary) with lax joints permitting easy dislocation and strain.

Features: long fingers and arm span, high palate, kyphosis, etc.

Symptoms. Backache, pain in joints, dislocations.

Alternatives. Alfalfa, Fenugreek, Irish Moss, Kelp, Horsetail, Marshmallow, Bamboo gum.

Teas. Alfalfa, Comfrey leaves, Horsetail, Plantain, Silverweed. Any one: 1 heaped teaspoon to each cup boiling water; infuse 10-15 minutes. 1 cup thrice daily.

Decoction. Fenugreek seeds 2; Horsetail 1; Bladderwrack 1; Liquorice half. Prepare: 3 heaped teaspoons to 1 pint (500ml) water gently simmered 10 to 20 minutes. 1 wineglass thrice daily. Fenugreek seeds decoction.

Diet. High protein, oily fish.

Supplements. Calcium, Dolomite, Zinc. ... marfan’s syndrome

Carpal Tunnel Syndrome

A condition characterised by attacks of pain and tingling in the ?rst three or four ?ngers of one or both hands. The attacks usually occur at night. Carpal tunnel syndrome is caused by pressure on the median nerve as it passes under the strong ligament that lies across the front of the wrist. The condition may respond to use of a night splint on the hand; otherwise a corticosteroid injection under the ligament may help. If not, pressure is relieved by surgical division of the compressing ligament.... carpal tunnel syndrome

Compression Syndrome

See MUSCLES, DISORDERS OF.... compression syndrome

Haemolytic Uraemic Syndrome

A disease of children resulting in acute RENAL failure. A febrile illness of the gastrointestinal or respiratory tracts is followed by intravascular COAGULATION of blood which results in HAEMOLYSIS, ANAEMIA, THROMBOCYTOPAENIA and renal failure (resulting from ?brin deposition in renal arterioles and glomerular capillaries).

The death rate is 2–10 per cent and the majority of patients survive without renal failure. The longer the period of OLIGURIA, the greater the risk of chronic renal failure.

Treatment is supportive, with replacement of blood and clotting factors, control of HYPERTENSION, and careful observation of ?uid balance.... haemolytic uraemic syndrome

Hellp Syndrome

A type of severe PRE-ECLAMPSIA (a disorder affecting some pregnant women) that affects various systems in the body. HAEMOLYSIS, raised concentration of the enzymes in the LIVER, and a low blood platelet count are among the characteristics (and explain the name HELLP); patients are acutely ill and immediate termination of pregnancy is necessary. (See also PREGNANCY AND LABOUR.)... hellp syndrome

Irritable Bowel Syndrome (ibs)

A disorder of the intestinal tract that affects its motility and causes abdominal distension and irregular defaecation. Traditional, but now discarded, names have been spastic or irritable colon. The disease affects around 20 per cent of the general population but in most it is no more than a minor nuisance. The causes are not fully understood, but it is generally believed that symptoms develop in response to psychological factors, changed gastrointestinal motility, or altered visceral sensation. About 50 per cent of patients meet criteria for a psychiatric diagnosis. Anxiety, depression, neurosis, panic attacks, acute disease are among possible triggering factors. Some patients have diarrhoea, others are constipated, and some alternate between the two. Many have increased sensitivity to distension of the intestine. Dietary factors such as intolerance to dairy products and wheat are apparent in certain patients.

Common features of IBS include:

abdominal distension.

altered bowel habit.

colicky lower abdominal pain, eased by defaecation.

mucous discharge from rectum.

feelings of incomplete defaecation.

Investigations usually produce normal results. Positive diagnosis in people under 40 is usually straightforward. In older patients, however, barium ENEMA, X-rays and COLONOSCOPY should be done to exclude colorectal cancer.

Reassurance is the initial and often e?ective treatment. If this fails, treatment should be directed at the major symptoms. Several months of the antidepressant amitriptyline (see ANTIDEPRESSANT DRUGS) may bene?t patients with intractable symptoms, given at a dose lower than that used to treat depression. The majority of patients follow a relapsing/remitting course, with episodes provoked by stressful events in their daily lives. (See also INTESTINE, DISEASES OF.)... irritable bowel syndrome (ibs)

Locked-in Syndrome

This describes a condition in which a patient is awake and retains the power of sense perception, but is unable to communicate except by limited eye movements because the motor nervous system is paralysed. Several diseases can cause this syndrome, which results from interruption of some of the nerve tracts between the mid brain and the pons (see BRAIN). Sometimes the syndrome is caused by severe damage to muscles or the nerves enervating them. Locked-in syndrome may sometimes be confused with a PERSISTENT VEGETATIVE STATE (PVS).... locked-in syndrome

Malabsorption Syndrome

This term includes a multiplicity of diseases, all of which are characterised by faulty absorption from the INTESTINE of essential foodstu?s such as fat, vitamins and mineral salts. Among the conditions in this syndrome are COELIAC DISEASE, SPRUE, CYSTIC FIBROSIS and pancreatitis (see PANCREAS, DISORDERS OF). Surgical removal of the small intestine also causes the syndrome. Symptoms include ANAEMIA, diarrhoea, OEDEMA, vitamin de?ciencies, weight loss and, in severe cases, MALNUTRITION.... malabsorption syndrome

Mendelson Syndrome

Inhalation of regurgitated stomach contents, usually as a complication of general ANAESTHESIA. It may cause death from ANOXIA or result in extensive lung damage.... mendelson syndrome

Plummer-vinson Syndrome

Hypochromic ANAEMIA and di?culty in swallowing due to an oesophageal web.... plummer-vinson syndrome

Post-viral Fatigue Syndrome

See MYALGIC ENCEPHALOMYELITIS (ME).... post-viral fatigue syndrome

Polycystic Ovary Syndrome

Characterised by scanty (or absent) MENSTRUATION, INFERTILITY, hirsutism (excessive hairiness) and OBESITY and the sufferers often have multiple cysts in their OVARIES.

The condition is caused by an imbalance between LUTEINISING HORMONE (LH) and FOLLICLE-STIMULATING HORMONE (FSH); this imbalance stops OVULATION and varies the TESTOSTERONE output of the ovaries. The treatment may be with CLOMIPHENE; with a PROGESTOGEN drug; with LUTEINISING HORMONE-RELEASING HORMONE (LHRH); or with oral contraceptives (see under CONTRACEPTION – Non-barrier methods). The treatment chosen depends on the severity of the disease and whether the woman wants to conceive. Rarely a section of ovarian tissue is surgically removed.... polycystic ovary syndrome

Respiratory Distress Syndrome

This may occur in adults as ACUTE RESPIRATORY DISTRESS SYNDROME (ARDS), or in newborn children, when it is also known as HYALINE MEMBRANE DISEASE. The adult syndrome consists of PULMONARY OEDEMA of non-cardiac origin. The process begins when tissue damage stimulates the autonomic nervous system, releases vasoactive substances, precipitates complement activation, and produces abnormalities of the clotting cascade – the serial process that leads to clotting of the blood (see COAGULATION). The activation of complement causes white cells to lodge in the pulmonary capillaries where they release substances which damage the pulmonary endothelium.

Respiratory distress syndrome is a complication of SHOCK, systemic SEPSIS and viral respiratory infections. It was ?rst described in 1967, and – despite advances with assisted ventilation

– remains a serious disease with a mortality of more than 50 per cent. The maintenance of adequate circulating blood volume, peripheral PERFUSION, acid-base balance and arterial oxygenation is important, and assisted ventilation should be instituted early.

In newborns the mechanism is diferent, being provoked by an inability of the lungs to manufacture SURFACTANT.... respiratory distress syndrome

Restless Legs Syndrome

A condition in which the patient experiences unpleasant sensations, and occasionally involuntary movements, in the legs when at rest, especially at night. No pathological changes have been identi?ed. It is sometimes indicative of iron-de?ciency ANAEMIA, but in many cases the cause remains a mystery and the variety of cures o?ered are a testimony to this. Some anti-epileptic drugs are said to help (see EPILEPSY).... restless legs syndrome

Seasonal Affective Disorder Syndrome

Known colloquially as SADS, this is a disorder in which an affected individual’s mood changes with the seasons. He or she is commonly depressed in winter, picking up again in the spring. The diagnosis is controversial and its prevalence is not known. The mood-change is probably related to light, with MELATONIN playing a key role. (See also MENTAL ILLNESS.)... seasonal affective disorder syndrome

Stokes-adams Syndrome

A term applied to a condition in which slowness of the PULSE is associated with attacks of unconsciousness, and which is due to ARRHYTHMIA of the cardiac muscle or even complete heart block. Usually the heart returns to normal rhythm after a short period, but patients who suffer from the condition are commonly provided with a PACEMAKER to maintain normal cardiac function (see also CARDIAC PACEMAKER).... stokes-adams syndrome

Zollinger-ellison Syndrome

A rare disorder in which severe peptic ulcers recur in the stomach and duodenum (see DUODENAL ULCER; STOMACH, DISEASES OF). It is caused by a tumour in the PANCREAS that produces a hormone, GASTRIN, which stimulates the stomach and duodenum to produce excess acid: this causes ulceration. Treatment is by surgery.... zollinger-ellison syndrome

Carcinoid Syndrome

Flushing of the face and neck caused by an active malignant tumour in the stomach or intestines with secondary growths in the liver. Often accompanied by an explosive diarrhoea. The lesion is usually found in the ileum yet it may also appear in the bile duct, ovaries or bronchi. Other symptoms include low blood pressure, drastic reduction in weight due to loss of body fluids.

Symptoms: flushing of face and neck, diarrhoea, low blood pressure, weight loss.

Treatment: relief of symptoms only. Diarrhoea – Fenugreek seed tea. Flushing: Chamomile tea.

Vitamin and Mineral Supplementation: Because of severe drain on these food elements Multivitamins should be taken daily together with additional 1000ius Vitamin E for the disturbed circulatory system. The heart should be sustained with a preparation of the Hawthorn berry.

To be treated by or in liaison with a qualified medical practitioner. ... carcinoid syndrome

Asperger’s Syndrome

A rare developmental disorder that is usually first recognized in childhood because of difficulties with social interactions, stilted speech, and very specialized interests.

Intelligence is normal or high.

Asperger’s syndrome is considered to be an autistic spectrum disorder and is also known as pervasive developmental disorder.

Special educational support may be needed, often within mainstream education.

The condition is lifelong.... asperger’s syndrome

Behçet’s Syndrome

A rare, multisystem disorder with recurrent mouth ulcers and genital ulcers and inflammation of the eyes, skin joints, blood vessels, brain, and intestines. The cause of Behçet’s syndrome is unknown, but it is strongly associated with a genetically determined histocompatability antigen, -B51. Treatment is difficult and may require corticosteroid and immunosuppressant drugs. The condition often becomes long-term.... behçet’s syndrome

Compartment Syndrome

A painful cramp due to compression of a group of muscles within a confined space. It may occur when muscles are enlarged due to intensive training or injury such as shin splints. Cramps induced by exercise usually disappear when exercise is stopped. Severe cases may require fasciotomy to improve blood flow and prevent development of a permanent contracture.... compartment syndrome

Conn’s Syndrome

A disorder caused by the secretion of excessive amounts of the hormone aldosterone by a noncancerous tumour of one of the adrenal glands. (See also aldosteronism.)... conn’s syndrome

Cri Du Chat Syndrome

A rare, congenital condition of severe mental handicap, abnormal facial appearance, low birth weight, and short stature, which is characterized by a cat-like cry in infancy. The syndrome is caused by a chromosomal abnormality. There is no treatment. (See also genetic counselling.)... cri du chat syndrome

Fanconi’s Syndrome

A rare kidney disorder that occurs most commonly in childhood. Various important chemicals, such as amino acids, phosphate, calcium, and potassium, are lost in the urine, leading to failure to thrive, stunting of growth, and bone disorders such as rickets. Possible causes of the syndrome include several rare inherited abnormalities of body chemistry and an adverse reaction to certain drugs.

The child may resume normal growth if an underlying chemical abnormality can be corrected. Alternatively, a kidney transplant may be possible.... fanconi’s syndrome

Fragile X Syndrome

An inherited defect of the X chromosome that causes learning difficulties.

The disorder occurs within families according to an X-linked recessive pattern of inheritance (see genetic disorders).

Although mainly males are affected, women can become carriers of the genetic defect.

In addition to having learning difficulties, affected males tend to be tall and physically strong, with large testes, a prominent nose and jaw, increased ear length, and are prone to epileptic seizures.

About a third of female carriers show some intellectual impairment.

The condition cannot be treated.... fragile x syndrome

Ganser’s Syndrome

A rare factitious disorder in which a person seeks, consciously or unconsciously, to mislead others about his or her mental state and may simulate symptoms of psychosis.... ganser’s syndrome

Gilles De La Tourette’s Syndrome

A rare, inherited neurological disorder.

It starts in childhood with repetitive grimaces and tics.

Involuntary barks, grunts, or other noises may appear as the disease progresses.

In some cases, the sufferer has episodes of issuing foul language.

The syndrome is more common in males.

It is usually of lifelong duration, but antipsychotic drugs can help in some cases.... gilles de la tourette’s syndrome

Goodpasture’s Syndrome

A rare autoimmune disorder causing inflammation of the glomeruli in the kidney (see glomerulus) and the alveoli in the lungs, and anaemia. It is a serious disease; unless treated early it may lead to lifethreatening bleeding into the lungs and progressive kidney failure. The disease is most common in young men, but can develop at any age and in women. Sometimes, it responds to treatment with immunosuppressant drugs and plasmapheresis. People who have severe or repeated attacks require dialysis and, eventually, a kidney transplant.... goodpasture’s syndrome

Horner’s Syndrome

A group of physical signs (narrowing of the eye pupil, drooping of the eyelid, and absence of sweating) affecting 1 side of the face that indicates damage to part of the sympathetic nervous system (see autonomic nervous system).... horner’s syndrome

Hurler’s Syndrome

A rare, inherited condition caused by an enzyme defect. The syndrome is a type of inborn error of metabolism (see metabolism, inborn errors of) in which there is an abnormal accumulation of substances known as mucopolysaccharides in the tissues.

Affected children may appear normal at birth but, at 6–12 months of age, they develop cardiac abnormalities, umbilical hernia, skeletal deformities, and enlargement of the tongue, liver, and spleen.

Growth is limited and mental development slows.

If the condition is diagnosed in early infancy, a bone marrow transplant may be curative.... hurler’s syndrome

Klinefelter’s Syndrome

A chromosomal abnormality in which a male has 1, or occasionally more, extra X chromosomes in his cells, giving a complement of instead of. The risk of a baby having the condition increases with maternal age. Features of the syndrome vary in severity and may not become apparent until puberty, when gynaecomastia (breast enlargement) occurs and the testes remain small. Affected males are usually infertile (see infertility). They tend to be tall and thin with a female body shape and absence of body hair. Incidence of learning difficulties is higher in people with Klinefelter’s syndrome than in the general population. There is no cure for the disorder, but hormonal treatment can induce secondary sexual characteristics, and mastectomy may be used to treat gynaecomastia.... klinefelter’s syndrome

Munchausen’s Syndrome

A chronic factitious disorder in which the sufferer complains of physical symptoms that are pretended or self-induced in order to play the role of patient. Most afflicted people are repeatedly hospitalized.

The usual complaints are abdominal pain, bleeding, neurological symptoms, rashes, and fever. Sufferers typically invent dramatic histories and behave disruptively in hospital. Many have detailed medical knowledge and scars from self-injury or previous treatment. In Munchausen’s syndrome by proxy, parents cause factitious disorders in their children.

Treatment consists of protecting sufferers from unnecessary operations and drug treatments.... munchausen’s syndrome

Nelson’s Syndrome

A rare disorder of the endocrine system that causes increased skin pigmentation. Nelson’s syndrome results from enlargement of the pituitary gland, which can follow removal of the adrenal glands (a treatment for Cushing’s syndrome).

Nelson’s syndrome is treated by hypophysectomy (removal or destruction of the pituitary gland).... nelson’s syndrome

Sézary Syndrome

A rare condition in which there is an abnormal overgrowth of lymphocytes in the skin, liver, spleen, and lymph nodes. It mainly affects middleaged and elderly people. The first symptom is the appearance of red, scaly patches on the skin that spread to form an itchy, flaking rash. There may also be accumulation of fluid under the skin, baldness, and distorted nail growth. Sézary syndrome is sometimes associated with leukaemia. Treatment includes anticancer drugs and radiotherapy.... sézary syndrome

Reiter’s Syndrome

A condition in which there is a combination of urethritis, reactive arthritis, and conjunctivitis. There may also be uveitis. Reiter’s syndrome is more common in men.

The syndrome is caused by an immune response and usually develops only in people with a genetic predisposition. Most patients have the -B27 tissue type (see histocompatability antigens). The syndrome’s development is induced by infection: usually nongonococcal urethritis, but sometimes bacillary dysentery. Reiter’s syndrome usually starts with a urethral discharge, which is followed by conjunctivitis and then arthritis. The arthritis usually affects 1 or 2 joints (usually the knee and/or ankle) and is often associated with fever and malaise. Attacks can last for several months. Tendons, ligaments, and tissue in the soles of the feet may also become inflamed. Skin rashes are common.

Diagnosis is made from the symptoms.

Analgesic drugs and nonsteroidal antiinflammatory drugs relieve symptoms but may have to be taken for a long period.

Relapses occur in about 1 in 3 cases.... reiter’s syndrome

Reye’s Syndrome

A rare disorder in which brain and liver damage follow a viral infection. Children over 15 are rarely affected. The cause is unknown, but aspirin seems to be a predisposing factor to developing the condition and is therefore not recommended for children.

The disorder starts as the child recovers from the infection. Symptoms include uncontrollable vomiting, lethargy, memory loss, and disorientation. Swelling of the brain may cause seizures, disturbances in heart rhythm, coma, and cessation of breathing.

Brain swelling may be controlled by corticosteroid drugs and by intravenous infusions of mannitol. Dialysis or blood transfusions may be needed. If breathing stops, a ventilator is used.

The death rate is around 10 per cent, and higher for those who have seizures, lapse into deep coma, and stop breathing.

Permanent brain damage may occur.... reye’s syndrome

Sjögren’s Syndrome

A condition in which the eyes and mouth are excessively dry.

The nasal cavity, throat, and vagina may also be affected.

The syndrome tends to occur with certain autoimmune disorders, such as rheumatoid arthritis and systemic lupus erythematosus.

Most sufferers are middle-aged women.... sjögren’s syndrome

Stein-leventhal Syndrome

See ovary, polycystic.... stein-leventhal syndrome

Subclavian Steal Syndrome

Recurrent attacks of blurred or double vision, loss of coordination, or dizziness caused by reduced blood flow to the base of the brain when one arm (usually the left) is moved.

The cause is narrowing of the arteries that carry blood to the arms, usually due to atherosclerosis.

Treatment is by arterial reconstructive surgery.... subclavian steal syndrome

Sudden Infant Death Syndrome

The sudden, unexpected death of an infant that cannot be explained.

Possible risk factors include: laying the baby face-down to sleep; overheating; parental smoking after the birth; prematurity and low birth weight; and poor socioeconomic background.

Preventive measures include: ensuring that the baby sleeps on its back at the foot of the cot; regulating the baby’s temperature (using the same amount of clothing and blankets that an adult would need); and stopping smoking.... sudden infant death syndrome

Temporomandibular Joint Syndrome

Pain and other symptoms affecting the head, jaw, and face, thought to result when the temporomandibular joints and the muscles and ligaments attached to them do not work together correctly. Causes include spasm of the chewing muscles, an incorrect bite (see malocclusion), jaw, head, or neck injuries, or osteoarthritis. Common symptoms include headaches, tenderness of the jaw muscles, and aching facial pain. Treatment involves correction of any underlying abnormality, analgesic drugs, and, in some cases, injection of corticosteroid drugs into the joint.... temporomandibular joint syndrome

Testicular Feminization Syndrome

A rare inherited condition in which a genetic male with internal testes has the external appearance of a female. The syndrome is a form of intersex and is the most common form of male pseudohermaphroditism.

The cause is a defective response of the body tissues to testosterone.

The causative genes are carried on the X chromosome, and so females can be carriers. Affected individuals appear to be girls throughout childhood, and most develop female secondary sexual characteristics at puberty; but amenorrhoea occurs, and a diagnosis is usually made during investigations to find its cause. Chromosome analysis shows the presence of male chromosomes and blood tests show male levels of testosterone. Treatment of testicular feminization syndrome involves surgical removal of the testes, to prevent cancerous change in later life, and therapy with oestrogen drugs. An affected person is not fertile but can live a normal life as a woman.... testicular feminization syndrome

Tietze’s Syndrome

Chest pain localized to an area on the front of the chest wall, usually made worse by movement of the arms or trunk or by pressure on the chest wall. The syndrome is caused by inflammation of 1 or several rib cartilages and symptoms may persist for months. Treatment is with analgesics, nonsteroidal anti-inflammatory drugs, or local injections of corticosteroid drugs into the cartilage.... tietze’s syndrome

Tourette’s Syndrome

See Gilles de la Tourette’s syndrome.... tourette’s syndrome

Turner’s Syndrome

A disorder caused by a chromosomal abnormality that only affects females. The abnormality may arise in 1 of 3 ways: affected females may have only 1 X chromosome instead of 2; they may have 1 normal and 1 defective X chromosome; or they may have a mixture of cells (see mosaicism), in which some of the cells are missing an X chromosome, some have extra chromosomes, and others have the normal complement of chromosomes. Turner’s syndrome causes short stature; webbing of the skin of the neck; absence or retarded development of sexual characteristics; amenorrhea, coarctation of the aorta, and abnormalities of the eyes and bones.

Treatment with growth hormone from infancy helps girls with Turner’s syndrome to achieve near normal height. Coarctation of the aorta is treated surgically. Treatment with oestrogen drugs induces menstruation, but it does not make affected girls fertile.... turner’s syndrome

Acquired Immune Deficiency Syndrome (aids)

A severe manifestation of infection with the Human immunodeficiency virus (HIV).... acquired immune deficiency syndrome (aids)

Acute Respiratory Distress Syndrome (ards)

Formerly known as adult respiratory distress syndrome. A form of acute respiratory failure in which a variety of di?erent disorders give rise to lung injury by what is thought to be a common pathway. The condition has a high mortality rate (about 70 per cent); it is a complex clinical problem in which a disproportionate immunological response plays a major role. (See IMMUNITY.)

The exact trigger is unknown, but it is thought that, whatever the stimulus, chemical mediators produced by cells of the immune system or elsewhere in the body spread and sustain an in?ammatory reaction. Cascade mechanisms with multiple interactions are provoked. CYTOTOXIC substances (which damage or kill cells) such as oxygen-free radicals and PROTEASE damage the alveolar capillary membranes (see ALVEOLUS). Once this happens, protein-rich ?uid leaks into the alveoli and interstitial spaces. SURFACTANT is also lost. This impairs the exchange of oxygen and carbon dioxide in the lungs and gives rise to the clinical and pathological picture of acute respiratory failure.

The typical patient with ARDS has rapidly worsening hypoxaemia (lack of oxygen in the blood), often requiring mechanical ventilation. There are all the signs of respiratory failure (see TACHYPNOEA; TACHYCARDIA; CYANOSIS), although the chest may be clear apart from a few crackles. Radiographs show bilateral, patchy, peripheral shadowing. Blood gases will show a low PaO2 (concentration of oxygen in arterial blood) and usually a high PaCO2 (concentration of carbon dioxide in arterial blood). The lungs are ‘sti?’ – they are less e?ective because of the loss of surfactant and the PULMONARY OEDEMA.

Causes The causes of ARDS may be broadly divided into the following:... acute respiratory distress syndrome (ards)

Anterior Tibial Syndrome

See under MUSCLES, DISORDERS OF – Compression syndrome.... anterior tibial syndrome

Asperger’s Syndrome

A lifelong personality disorder, evident from childhood and regarded as a mild form of AUTISM. Persons with the syndrome tend to have great di?culty with personal relationships. They tend to take what is said to them as literal fact and have great di?culty in understanding irony, metaphors or even jokes. They appear shy with a distant and aloof character, emotional rigidity and inability to adapt to new situations. They are often mocked and ill-treated at school by their fellows because they appear unusual. Many people with Asperger’s seem to take refuge in intense interests or hobbies, often conducted to an obsessional degree. Many become skilled in mathematics and particularly information technology. Frustration with the outside world which is so hard to comprehend may provoke aggressive outbursts when stressed.... asperger’s syndrome

Behçet’s Syndrome

This is a syndrome characterised by oral and genital ulceration, UVEITIS and ARTHROPATHY. THROMBOPHLEBITIS is a common complication, and involvement of the central nervous system may occur.... behçet’s syndrome

Attention Deficit Disorder (hyperactivity Syndrome)

A lifelong disorder characterised by overactive behaviour, short attention span and poor concentration. It is thought to be caused by a minor abnormality that affects the part of the brain that allows us to concentrate and focus on tasks. Some scientists have suggested that it may be caused by particular foods, particularly processed foods containing arti?cial additives, and recommend special diets. In some countries, attention de?cit disorder is diagnosed in up to a tenth of all children; this may re?ect di?erences in paediatric practice and diagnosis rather than a real variation in prevalence of the disorder. Behaviour therapy is the main treatment. Those children with very severe symptoms of restlessness, short attention span and disturbed behaviour may respond to additional treatment with methylphenidate (Ritalin®). This is an amphetamine-like drug that is thought to stimulate the part of the brain that is not working properly. Use of this drug has, however, been controversial.... attention deficit disorder (hyperactivity syndrome)

Chronic Fatigue Syndrome (cfs)

See also MYALGIC ENCEPHALOMYELITIS (ME). A condition characterised by severe, disabling mental and physical fatigue brought on by mental or physical activity and associated with a range of symptoms including muscle pain, headaches, poor sleep, disturbed moods and impaired concentration. The prevalence of the condition is between 0.2 and 2.6 per cent of the population (depending on how investigators de?ne CFS/ME). Despite the stereotype of ‘yuppie ?u’, epidemiological research has shown that the condition occurs in all socioeconomic and ethnic groups. It is commoner in women and can also occur in children.

In the 19th century CFS was called neurasthenia. In the UK, myalgic encephalomyelitis (ME) is often used, a term originally introduced to describe a speci?c outbreak such as the one at the Royal Free Hospital, London in 1955. The term is inaccurate as there is no evidence of in?ammation of the brain and spinal cord (the meaning of encephalomyelitis). Doctors prefer the term CFS, but many patients see this as derogatory, perceiving it to imply that they are merely ‘tired all the time’ rather than having a disabling illness.

The cause (or causes) are unknown, so the condition is classi?ed alongside other ‘medically unexplained syndromes’ such as IRRITABLE BOWEL SYNDROME (IBS) and multiple chemical sensitivity – all of which overlap with CFS. In many patients the illness seems to start immediately after a documented infection, such as that caused by EPSTEIN BARR VIRUS, or after viral MENINGITIS, Q FEVER and TOXOPLASMOSIS. These infections seem to be a trigger rather than a cause: mild immune activation is found in patients, but it is not known if this is cause or e?ect. The body’s endocrine system is disturbed, particularly the hypothalamopituitary-adrenal axis, and levels of cortisol are often a little lower than normal – the opposite of what is found in severe depression. Psychiatric disorder, usually depression and/or anxiety, is associated with CFS, with rates too high to be explained solely as a reaction to the disability experienced.

Because we do not know the cause, the underlying problem cannot be dealt with e?ectively and treatments are directed at the factors leading to symptoms persisting. For example, a slow increase in physical activity can help many, as can COGNITIVE BEHAVIOUR THERAPY. Too much rest can be harmful, as muscles are rapidly weakened, but aggressive attempts at coercing patients into exercising can be counter-productive as their symptoms may worsen. Outcome is in?uenced by the presence of any pre-existing psychiatric disorder and the sufferer’s beliefs about its causes and treatment. Research continues.... chronic fatigue syndrome (cfs)

Da Costa’s Syndrome

See EFFORT SYNDROME.... da costa’s syndrome

Effort Syndrome

Also known as Da Costa’s syndrome, this is a condition in which symptoms occur, such as palpitations and shortness of breath, which are attributed by the patient to disorder of the heart. There is no evidence, however, of heart disease, and psychological factors are thought to be of importance. (See PSYCHOSOMATIC DISEASES.)... effort syndrome

Eisenmenger Syndrome

A condition in which the subject suffers from a defect in one of the dividing walls (septum) of the HEART and this is accompanied by PULMONARY HYPERTENSION. The defect allows blood low in oxygen to ?ow from the right to the left side of the heart and be pumped into the aorta, which normally carries oxygenated blood to the body. The patient has a dusky blue appearance, becomes breathless and has a severely restricted exercise tolerance. There is an increase in red blood cells as the body attempts to compensate for the lowered oxygen delivery. The condition may be avoided by early surgical repair of the septal defect, but once it is evident, surgery may not be possible.... eisenmenger syndrome

False-memory Syndrome

See REPRESSED MEMORY THERAPY.... false-memory syndrome

Fetal Alcohol Syndrome

A disorder of newborn infants that is caused by the toxic effects on the growing FETUS of excessive amounts of alcohol taken by the mother. Low birth-weight and retarded growth are the main consequences, but affected babies may have hand and facial deformities and are sometimes mentally retarded.... fetal alcohol syndrome

Cushing’s Syndrome

Described in 1932 by Harvey Cushing, the American neurosurgeon, Cushing’s syndrome is due to an excess production of CORTISOL. It can thus result from a tumour of the ADRENAL GLANDS secreting cortisol, or from a PITUITARY GLAND tumour secreting ACTH and stimulating both adrenal cortexes to hypertrophy and secrete excess cortisol. It is sometimes the result of ectopic production of ACTH from non-endocrine tumours in the LUNGS and PANCREAS.

The patient gains weight and the obesity tends to have a characteristic distribution over the face, neck, and shoulder and pelvic girdles. Purple striae develop over the abdomen and there is often increased hairiness or hirsutism. The blood pressure is commonly raised and the bone softens as a result of osteoporosis. The best test to establish the diagnosis is to measure the amount of cortisol in a 24-hourly specimen of urine. Once the diagnosis has been established, it is then necessary to undertake further tests to determine the cause.... cushing’s syndrome

Down’s (down) Syndrome

A genetic disorder in which the affected person usually carries an extra chromosome – 47 instead of the usual 46. The extra chromosome occurs in the no. 21 group, hence the disorder is described as trisomy 21. The condition was named after Dr J L H Down, the London doctor who ?rst described it in 1866. The incidence is around one in 600 births. The disorder is characterised by a particular physical appearance and learning diffculties, with the affected individuals having an INTELLIGENCE QUOTIENT (IQ) ranging from 30 to 80 (normal is 100). Most people with the syndrome have eyes that slope up at the outer corners with skin folds that cover the inner ones. The face and features are smaller than normal, while the tongue is larger; the back of the head is ?attened and the hands are usually short and broad. The facial features led to the syndrome being described as ‘mongolism’, a term that is no longer used.

Children with Down’s syndrome are usually friendly and ?t in well with the family. Despite their learning disabilities, some learn to read and, if they have appropriate educational and environmental stimulation, can make the most of their abilities.

A heart defect is present in around 25 per cent of the children at birth, and deafness and acute LEUKAEMIA occur more frequently than in unaffected youngsters. Those with the syndrome are particularly prone to developing ear infections. ATHEROSCLEROSIS often develops early in adults and ALZHEIMER’S DISEASE tends to occur as early as 40 years of age. A friendly home environment helps them to enjoy life, but a few individuals with the syndrome may eventually require institutional care. Improved social and medical care means that many now live until their 60s.

Routine screening tests early in pregnancy, starting with blood analysis but going on if necessary to AMNIOCENTESIS and chorionic villus sampling (see PRENATAL SCREENING OR DIAGNOSIS), can identify fetuses likely to develop the disorder. If a sample of fetal cells con?rms the chromosome defect (triple marker test – see PREGNANCY AND LABOUR), the parents may consider termination of the pregnancy. In the UK, screening is normally o?ered to women over 35 because of their increased risk. When younger parents have a child with Down’s syndrome, the chances of a subsequent child with the disorder are relatively high as it is probable that both parents carry a chromosome abnormality insu?cient to cause ill-health until combined. So they may wish to discuss with their medical advisers the question of further pregnancies.

Parents who have a child with Down’s syndrome will understandably feel a combination of strong emotions, including anger and guilt, and constructive counselling can be valuable. Among societies o?ering advice and support is the Down’s Syndrome Association.... down’s (down) syndrome

Fibromyalgia Syndrome

Symptoms These vary, with pain and fatigue generally prominent, sometimes causing considerable disability. Patients can usually dress and wash independently but cannot cope with a job or household activities. Pain is mainly axial, but may affect any region. ANALGESICS, NONSTEROIDAL ANTI-INFLAMMATORY DRUGS (NSAIDS) and local physical treatments are generally ine?ective.

Patients often have a poor sleep pattern, waking exhausted. Unexplained headache, urinary frequency and abdominal symptoms are common, but no cause has been found. Patients generally score highly on measures of anxiety and DEPRESSION. Fibromyalgia is not an ideal description; idiopathic di?use-pain syndrome and non-restorative sleep disorder are increasingly preferred terms.

Clinical ?ndings are generally unremarkable; most important is the presence of multiple hyperalgesic tender sites (e.g. low cervical spine, low lumbar spine, suboccipital muscle, mid upper trapezius, tennis-elbow sites, upper outer quadrants of buttocks, medial fat pad of knees). In ?bromyalgia, hyperalgesia (excessive discomfort) is widespread and symmetrical, but absent at sites normally non-tender. Claims by patients to be tender all over are more likely to be due to fabrication or psychiatric disturbance. OSTEOARTHRITIS and periarticular syndrome are much more common and should be excluded, together with other conditions, such as hypothyroidism (see THYROID GLAND, DISEASES OF), SYSTEMIC LUPUS ERYTHEMATOSUS (SLE) and in?ammatory myopathy (see MUSCLES, DISORDERS OF), which may present with similar symptoms.

Cause There is no investigational evidence of in?ammatory, metabolic or structural abnormality, and the problem seems functional rather than pathological. SEROTONIN de?ciency has a signi?cant role in ?bromyalgia syndrome.

Management Controlled trials have con?rmed the usefulness of low-dose AMITRIPTYLINE or DOTHIEPIN together with a graded exercise programme to increase aerobic ?tness. How this works is still unclear; its e?cacy may be due to its normalising effects on the sleep centre or ‘pain gating’ (reduction of pain sensation) at the spinal-cord level. Prognosis is often poor. Nevertheless, suitable advice and training can help most patients to learn to cope better with their condition and avoid unnecessary investigations and drug treatments.... fibromyalgia syndrome

Fröhlich’s Syndrome

A condition in children characterised by obesity, physical sluggishness, and retarded sexual development. It is the result of disturbed PITUITARY GLAND function.... fröhlich’s syndrome

Gilles De La Tourette’s Syndrome

Also known as Tourette’s syndrome, this is a hereditary condition of severe and multiple tics (see TIC) of motor or vocal origin. It usually starts in childhood and becomes chronic (with remissions). With a prevalance of one in 2,000, a dominant gene (see GENES) with variable expression may be responsible. The disorder is associated with explosive vocal tics and grunts, occasionally obscene (see COPROLALIA). The patient may also involuntarily repeat the words or imitate the actions of others (see PALILALIA). HALOPERIDOL, pimozide (an oral antipsychotic drug similar to CHLORPROMAZINE hydrochloride) and clonidine are among drugs that may help to control this distressing, but fortunately rare, disorder.... gilles de la tourette’s syndrome

Horner’s Syndrome

This is the description given to a combination of changes resulting from paralysis of the sympathetic nerve in the neck. They are: a small pupil; a drooping upper lid; and an apparently (though not actually) sunken eye.... horner’s syndrome

Hurler’s Syndrome

See GARGOYLISM.... hurler’s syndrome

Hyperkinetic Syndrome

See HYPERACTIVITY.... hyperkinetic syndrome

Katayama Syndrome

A syndrome characterised by allergic symptoms and involving the respiratory tract (i.e. fever, cough, rash and marked eosinophilia) sometimes seen in patients who have had exposure to a large number of schistosome cercariae, especially Schistosoma japonicum, sometimes S. mansoni, rarely S. haematobium. Sydrome occurs during the invasive stage of schistosomiasis from the time of cercarial penetration of the skin to the time of early egg laying in the veins.... katayama syndrome

Korsakoff’s Syndrome

A form of mental disturbance occurring in chronic alcoholism and other toxic states, such as URAEMIA, lead poisoning and cerebral SYPHILIS. Its special features are talkativeness with delusions in regard to time and place – the patient, although clear in other matters, imagining that he or she has recently made journeys.... korsakoff’s syndrome

Klinefelter’s Syndrome

The original syndrome described by Klinefelter consisted of GYNAECOMASTIA, testicular ATROPHY and INFERTILITY. Intelligence was unimpaired. Patients have been described who have associated mental defects and striking tallness of stature, but the only constant feature of the syndrome is testicular atrophy with resulting azoospermia and infertility.

The atrophy of the testis is the result of ?brosis, which begins to appear in childhood and progresses until all the seminiferous tubules are replaced by ?brous tissue. Gynaecomastia, mental retardation and eunuchoidism (see EUNUCH; loss of male secondary sexual characteristics – small penis, loss of body hair and a high-pitched voice) may be present. Most patients with Klinefelter’s syndrome have 47 chromosomes instead of the normal 46. The extra chromosome is an X chromosome, so that the sex chromosome constitution is XXY instead of XY. Klinefelter’s syndrome is one of the most common chromosome abnormalities and occurs in 1 in 300 of the male population. Patients with this syndrome show that the Y chromosome is strongly sex-determining: thus, a patient who has an XXY chromosome constitution may have the appearance of a normal male, with infertility the only incapacity, while the loss of a Y chromosome leads to the development of a bodily form which is essentially feminine (see TURNER’S SYNDROME).... klinefelter’s syndrome

Marfan’s Syndrome

An inherited disorder affecting about one person in 50,000 in which the CONNECTIVE TISSUE is abnormal. The result is defects of the heart valves, the arteries arising from the heart, the skeleton and the eyes. The victims are unusually tall and thin with a particular facial appearance (the US President Abraham Lincoln was said to have Marfan’s) and deformities of the chest and spine. They have spider-like ?ngers and toes and their joints and ligaments are weak. Orthopaedic intervention may help, as will drugs to control the heart problems. As affected individuals have a 50 per cent chance of passing on the disease to their children, they should receive genetic counselling.... marfan’s syndrome

Medial Tibial Syndrome

The term applied by athletes to a condition characterised by pain over the inner border of the shin, which occurs in most runners and sometimes in joggers. The syndrome, also known as shin splints, is due to muscular swelling resulting in inadequate blood supply in the muscle: hence the pain. The disorder may be the result of compartment syndrome (build-up of pressure in the muscles), TENDINITIS, muscle or bone in?ammation, or damage to the muscle. It usually disappears within a few weeks, responding to rest and PHYSIOTHERAPY, with or without injections. In some cases, however, it becomes chronic and so severe that it occurs even at rest. If the cause is the compartment syndrome, relief is usually obtained by a simple operation to relieve the pressure in the affected muscles.... medial tibial syndrome

Munchausen’s Syndrome

Munchausen’s syndrome, also known as ‘hospital addiction’ syndrome, is a disorder in which the patient presents repeatedly to hospitals with symptoms and signs (often simulated) suggestive of serious physical illness. More common among men than women, it differs from MALINGERING in that no obvious reward results from the imagined or simulated symptoms. Patients may simulate signs and symptoms in a bizarre way – for instance, by swallowing blood or inserting needles into the chest. Abdominal symptoms are particularly common. They often have a history of multiple hospital admissions and operations, and show extensive pathological lying and lack of personal rapport. Although the cause is unclear, it is thought to be a form of hysterical behaviour in a severely disordered personality. Patients are often masochistic, attention-seeking, and constantly trying to obtain ANALGESICS. Occasionally there may be a degree of treatable DEPRESSION, but on the whole management is very di?cult as patients often abscond from psychiatric treatment.

A variation of the syndrome – Munchausen’s syndrome by proxy, better termed ‘fabricated and induced illness’ – has been identi?ed, in which the persons affected in?ict damage upon others, usually children (or even animals) in their care. Factitious illness refers to simulating symptoms, such as stating that the child has blood in its urine when it is actually the parent’s blood. Induced illness includes such events as injecting dirty water into a baby’s muscles, dropping mild caustic into their eyes, adding salt to a baby’s milk or diluting it 50–50 with water, and so on. Much debate has ensued about the suggestion that some sudden infant deaths are due to smothering rather than natural causes, as a type of induced illness. As a consequence of two successful appeals against conviction for murder in 2004, the UK attorney general ordered a review of all criminal and family court cases in which disputed medical evidence had formed the basis of the decision. Paediatricians are concerned that one result is likely to be an increase in undetected child abuse.... munchausen’s syndrome

Raynauds Either Syndrome Or Disease

The first is less severe, characterized by blanching spasms of blood vessels leading to the hands and feet, initiated by cold, moisture, even emotional stress and low blood sugar. Sort of a finger migraine. After the spasm relaxes, the tissue distal becomes red, hot, even painful. R. Disease is more serious and perhaps deriving from different causes as well. The spasms may not subside, the effected tissues can become purplish, and in extreme cases, gangrenous.... raynauds either syndrome or disease

Recovered Memory Syndrome

See REPRESSED MEMORY THERAPY.... recovered memory syndrome

Reiter’s Syndrome

A condition probably caused by an immunological response to a virus (see IMMUNITY), in which the patient has URETHRITIS, ARTHRITIS and conjunctivitis (see under EYE, DISORDERS OF). The skin may also be affected by horny areas which develop in it. The disorder was ?rst described by a German physician, H. Reiter (1881–1969); it is more common in men than in women, and is the most common cause of arthritis in young men. It usually develops in people who have a genetic predisposition for it: around 80 per cent of sufferers have the HLA B27 tissue type. Treatment is symptomatic with ANALGESICS and NON-STEROIDAL ANTIINFLAMMATORY DRUGS (NSAIDS). (See also REACTIVE ARTHRITIS.)... reiter’s syndrome

Scalded-skin Syndrome

In infants, certain staphylococcal bacteria (see STAPHYLOCOCCUS) can cause an acute toxic illness in which the subject develops sheets of bright ERYTHEMA, accompanied by shedding of layers of outer epidermis. The result is similar to a hot-water scald. The condition responds promptly to appropriate antibiotic therapy. Drug reactions, especially from sulphonamides, may cause a similar syndrome in adults. In drug-induced forms, mucosae are also affected and the disease is often fatal.... scalded-skin syndrome

Reye’s Syndrome

A condition, now rare, which occurs predominantly in young children following a viral infection of the upper respiratory tract or a viral infection such as CHICKENPOX or INFLUENZA.

The cause is not known, but there is evidence that ASPIRIN may also play a part in its causation. Doctors recommend that children should be given PARACETAMOL in place of aspirin. The initial feature is severe, persistent vomiting and fever. This is followed by outbursts of wild behaviour, DELIRIUM and CONVULSIONS terminating in COMA and death, often from liver failure. The MORTALITY rate is around 23 per cent, and 50 per cent of the survivors may have persistent mental or neurological disturbances. The younger the patient, the higher the death rate and the more common the permanent residual effects. Since aspirin has no longer been licensed for use in children and young people the incidence of the condition has fallen dramatcally. Some cases, previously thought to be Reye’s syndrome, have subsequently turned out to have been due to certain inherited metabolic diseases and to be unconnected with aspirin.... reye’s syndrome

Severe Acute Respiratory Syndrome (sars)

See SARS.... severe acute respiratory syndrome (sars)

Shaken Impact Syndrome

A type of non-accidental head-injury to infants. A study published in 2000 (Lancet, 4 November) suggests that almost 25 out of 100,000 children under a year old sustain brain damage from shaken impact syndrome, even if they do not strike any hard surface. So, of around 685,000 babies in this age-group in Britain, as many as 170 a year may suffer injury from violent shaking. The median age for admission to hospital for the condition in Scotland was 2.2 months in the 18 months from July 1998. A Swedish report has concluded that children at risk from CHILD ABUSE can be identi?ed and the incidence reduced by legislation banning corporal punishment. (See also NON-ACCIDENTAL INJURY (NAI).)... shaken impact syndrome

Sjogren’s Syndrome

A disorder of CONNECTIVE TISSUE, with dryness of the mouth (xerostomia) and dryness of the eye (kerato conjunctivitis sicca) occurring in association with RHEUMATOID ARTHRITIS. It occurs in approximately 10 per cent of patients with the latter condition, but it can occur – and frequently does so – independently of rheumatoid disease. The lack of tears gives rise to symptoms of dryness and grittiness of the eyes; the dry mouth can occasionally be so severe as to cause a DYSPHAGIA. The disease is due to the autoimmune destruction of the SALIVARY GLANDS and the lacrimal glands (see EYE – Lacrimal apparatus). The disorder is usually associated with speci?c HLA antigen (see HLA SYSTEM). Treatment is unsatisfactory and is limited to oral and ocular hygiene as well as the provision of arti?cial tears in the form of cellulose eye drops.... sjogren’s syndrome

Stevens-johnson Syndrome

See ERYTHEMA – Erythema multiforme.... stevens-johnson syndrome

Sudden Infant Death Syndrome (sids)

Sudden infant death syndrome, or cot death, refers to the unexpected death – usually during sleep – of an apparently healthy baby. Well over 1,500 such cases are thought to have occurred in the United Kingdom each year until 1992, when government advice was issued about laying babies on their backs. The ?gure was 192 in 2002 and continues to fall. Boys are affected more than girls, and over half of these deaths occur at the age of 2–6 months. More common in lower social classes, the incidence is highest in the winter; most of the infants have been bottle-fed (see also INFANT FEEDING).

Causes These are unknown, with possible multiple aetiology. Prematurity and low birth-weight may play a role. The sleeping position of a baby and an over-warm environment may be major factors, since deaths have fallen sharply since mothers were o?cially advised to place babies on their backs and not to overheat them. Some deaths are probably the result of respiratory infections, usually viral, which may stop breathing in at-risk infants, while others may result from the infant becoming smothered in a soft pillow. Faults in the baby’s central breathing control system (central APNOEA) may be a factor. Other possible factors include poor socioeconomic environment; vitamin E de?ciency; or smoking, drug addiction or anaemia in the mother. Help and advice may be obtained from the Foundation for the Study of Infant Deaths and the Cot Death Society.... sudden infant death syndrome (sids)

Swollen Belly Syndrome

A condition seen in very young children in Papua New Guinea infected with a Strongyloides fu?lleborni-like species of intestinal nematode.... swollen belly syndrome

Tourette’s Syndrome

See GILLES DE LA TOURETTE’S SYNDROME.... tourette’s syndrome

Urethral Syndrome

A group of symptoms of unknown cause. It mainly affects women, and occasionally men, with pain and discomfort in the lower abdomen, a frequent urge to urinate and, in women, pain in the area of the VULVA. Investigation rarely results in any abnormal ?ndings. Postmenopausal women (see MENOPAUSE), who are the most common sufferers, may have in?ammation of the vulva due to thinning of the tissues in that area. Treatment is supportive, with the patient being advised to drink a lot of ?uid and maintain a high standard of personal hygiene.... urethral syndrome

Turner’s Syndrome

This occurs in one in 2,500 live female births. It is caused by either the absence of or an abnormality in one of the two X CHROMOSOMES. Classical Turner’s syndrome is a complete deletion of one X so that the karyotype is 45XO. Half of the people with Turner’s syndrome have MOSAICISM with a mixture of Turner cells and normal cells, or other abnormalities of the X chromosome such as partial deletions or a ring X. They are females, both in appearance and sexually; clinical features are variable and include short stature, with ?nal height between 1·295 m and 1·575 m, and ovarian failure. Other clinical features may include a short neck, webbing of the neck, increased carrying angle at the elbow (cubitus valgus), widely spaced nipples, cardiovascular abnormalities (of which the commonest is coarctation of the aorta [about 10 per cent]), morphological abnormalities of the kidneys (including horseshoe kidney and abnormalities of the pelviureteric tracts), recurrent otitis media (see under EAR, DISEASES OF), squints, increased incidence of pigmented naevi (see NAEVUS), hypothyroidism (see under THYROID, DISEASES OF) and DIABETES MELLITUS. Intelligence is across the normal range, although there are speci?c learning defects which are related to hand-eye coordination and spatial awareness.

Patients with Turner’s syndrome may require therapeutic help throughout their life. In early childhood this may revolve around surgical correction of cardiovascular disease and treatment to improve growth. Usually, PUBERTY will need to be induced with oestrogen therapy (see OESTROGENS). In adult life, problems of oestrogen therapy, prevention of osteoporosis (see under BONE, DISORDERS OF), assessment and treatment of HYPERTENSION and assisted fertility predominate. For the address of the UK Turner Syndrome Society, see Appendix 2.... turner’s syndrome

Werner’s Syndrome

A rare inherited condition in which the affected person suffers from premature ageing from adolescence onwards. His or her growth may be retarded, the skin become thin, and arterial disease, DIABETES MELLITUS and leg ulcers (see ULCER) develop. Treatment is symptomatic.... werner’s syndrome

Building Sickness Syndrome

Work-related lethargy coming on in the afternoon may be the result of this syndrome. Air-conditioned buildings promote symptoms not encountered in naturally ventilated offices, shops, etc.

Symptoms: dry throat, eye irritation, headache, fatigue, wheezy chest and flu-like colds may be a product of modern ventilating systems. The headache may come on in the afternoon and improve on leaving work. Humidifier fever. Passive inhalation of cigarette smoke a factor.

Alternatives. Treatment. Ginseng, Iceland Moss, Irish Moss, German Chamomile tea. ... building sickness syndrome

Commuter’s Syndrome

A range of complaints blamed on the effects of commuting to and from work.

Symptoms: headaches, palpitations, skin complaints, sleeplessness, digestive disorders, chest pains and excessive perspiration. These may be due to exposure to unsatisfactory levels of bacterial and chemical pollution. Where symptoms are not due to any underlying condition, Ginseng, Gota Kola and Chaparral may usually be relied on.

Preparations: teas, tablets, liquid extracts. Professional woman’s fatigue may be dispelled by German Chamomile tea. ... commuter’s syndrome

Eosinophilic Myalgia Syndrome (ems)

An increase in the number of eosinophils in the blood. May occur in a number of allergies, infections, and is sometimes responsible for leukaemia. Among other causes, food supplement tryptophan has been linked. See entry.

Symptoms. Stiffness and severe muscle pain.

Treatment. Formula. Echinacea 2; Burdock 1; Yarrow 1; Poke root quarter. Dose: Liquid Extracts: 1-2 teaspoons. Tinctures: 2-3 teaspoons. Powders: 750mg (three 00 capsules or half a teaspoon). Thrice daily. ... eosinophilic myalgia syndrome (ems)

Carpal Tunnel Syndrome (cts)

Compression of the median nerve between the transverse carpal ligament and the carpal bone. May cause damage to the sensory and motor nerves and manifest as teno-synovitis or ganglion. Affects chiefly middle-aged women.

Symptoms. Numbness or tingling in first three fingers which feel ‘clumsy’. Worse at night. Muscle wasting of palm of the hand.

Diagnostic sign: the ‘flick’ sign – shaking or ‘flicking’ of the wrist when pain is worse and which is believed to mechanically untether the nerve and promote return of venous blood. (J. Neural Neurosurgery and Psychiatry, 1984, 47, 873)

Differential diagnosis: compression of seventh cervical spinal nerve root (osteopathic lesion) has tingling of the hands when standing or from exaggerated neck movements.

Treatment. Reduction of spasm with peripheral relaxants (antispasmodics). Also: local injection of corticosteroid or surgical division of the transverse carpal ligament.

Alternatives:– Tea. Equal parts. Chamomile, Hops, Valerian. 1 heaped teaspoon to each cup boiling water; infuse 15 minutes. 1 cup 2-3 times daily.

Tablets/capsules. Cramp bark. St John’s Wort. Wild Yam. Lobelia. Prickly Ash. Passion flower. Black Cohosh. Hawthorn.

Powders. Formula. Cramp bark 1; Guaiacum half; Black Cohosh half; Pinch Cayenne. Dose: 500mg (two 00 capsules or one-third teaspoon) 2-3 times daily.

Bromelain, quarter to half a teaspoon between meals.

Turmeric. Quarter to half a teaspoon between meals.

Tinctures. Formula: Cramp bark 1; Lobelia half; Black Cohosh half. Few drops Tincture Capsicum. Mix. 1 teaspoon in water when necessary. To reduce blood pressure, add half part Mistletoe.

Practitioner. For pain. Tincture Gelsemium BPC 1963 5-15 drops when necessary.

Topical. Rhus tox ointment. Camphorated oil.

Lotion: Tincture Lobelia 20; Tincture Capsicum 1.

Supplements. Condition responsive to Vitamin B6 and B-complex. Some authorities conclude that CTS is a primary deficiency of Vitamin B6, dose: 50-200mg daily.

General. Yoga, to control pain. Attention to kidneys. Diuretics may be required. Cold packs or packet of peas from the refrigerator to site of pain for 15 minutes daily. ... carpal tunnel syndrome (cts)

Binge–purge Syndrome

An alternative term for bulimia.... binge–purge syndrome

Budd–chiari Syndrome

A rare disorder in which the veins draining blood from the liver become blocked or narrowed.

Blood accumulates in the liver, which swells.

Liver failure and portal hypertension result.

Treatment is aimed at removing the cause of the obstruction: this may be a blood clot, pressure on the veins from a liver tumour, or a congenital abnormality of the veins.

In most cases, treatment has only a limited effect and, unless a liver transplant can be done, the disease is fatal within 2 years.... budd–chiari syndrome

Capgras’ Syndrome

The delusion that a relative or friend has been replaced by an identical impostor. Also known as the

“illusion of doubles’’, the syndrome is seen most frequently in paranoid schizophrenia, but also occurs in organic brain disorders (see brain syndrome, organic) and affective disorders.... capgras’ syndrome

Fluid Retention Syndrome (frs)

Accumulation of fluid beneath the skin; frequent sites – fingers, abdomen, breast, ankles.

Symptoms. Headache, frequency of urine, palpitation, possible irritable bowel syndrome. “My feet are killing me”, “I can’t get my wedding ring off” are typical complaints by women with FRS. Sometimes a complication of diabetes, or follows abuse of laxatives or diuretic drugs. A part of the premenstrual syndrome.

Alternatives. Teas. Any of the following: Buchu, Dandelion, Hawthorn, Motherwort, Yarrow. One or more cups daily, cold.

Tablets. Popular combination. Powdered Dandelion root BHP (1983) 90mg; powdered Horsetail extract 3:1 10mg; powdered Uva Ursi extract 3:1 75mg. (Gerard House)

Formula. Equal parts: Hawthorn, Dandelion, Broom. Dose: Powders: 750mg (three 00 capsules or half a teaspoon). Liquid extracts: 1 teaspoon. Tinctures: 1-2 teaspoons. Thrice daily.

Practitioner. Tincture Lily of the Valley (Convallaria) BHP (1983) (1:5 in 40 per cent alcohol). Dose 8- 15 drops (0.5-1ml). Thrice daily.

Aromatherapy. 6 drops Lavender oil on wet handkerchief: use as a compress for relief of ankles during a journey.

Traditional Gypsy Medicine. The sufferer is exposed to the rising smoke of smouldering Juniper berries which exudes volatile oils and has a gentle diuretic effect.

Diet. Salt-free. High protein. Dandelion coffee. Supplements. Vitamin B-complex, Potassium, Copper. ... fluid retention syndrome (frs)

Haemolytic-uraemia Syndrome (hus)

An uncommon cause of kidney failure in children. The association of three processes: reduced platelets, haemolytic anaemia and kidney failure. Foodborne infection is spread by micro-organisms (E. coli, etc) with an affinity for the alimentary canal. The central nervous system is involved.

Onset: diarrhoea with streaks of blood, vomiting, breathlessness, feverishness, dizziness, jaundice and enlargement of the spleen.

Other causes may be mismatched food transfusion, environmental chemicals, nitrite food preservatives and analgesic drugs.

Alternatives. Tea. Combine herbs: Red Clover (to increase platelets) 3; Yarrow (kidneys) 2; Hops (cerebrospinal supportive) 1. 1-2 teaspoons to each cup boiling water; infuse 15 minutes. Half-1 cup freely.

Formula: Combine, Tinctures. Red Clover 2; Fringe Tree 1; Hops half. Dose: one 5ml teaspoon. Babies: 2 drops in feed; infants 3-5 years 10 drops in water and honey thrice daily.

Supplementation. Vitamin B-complex. C.

To be treated by or in liaison with a qualified medical practitioner. ... haemolytic-uraemia syndrome (hus)

Monosodium Glutamate Syndrome

Pains in arms, neck, shoulders and spine from excessive consumption of monosodium glutamate which increases the body’s salt levels.

Tea. Mix, equal parts: Agrimony, Centuary, Meadowsweet.

Decoction. Mix, equal parts: Dandelion root, Echinacea root.

Tablets/capsules. Blue Flag. Devil’s Claw. Wild Yam.

Formula (1). Turkey Rhubarb, with pinch of Cayenne or drops of Tincture Capsicum. Dose: Liquid Extracts: 1 teaspoon. Tinctures: 2 teaspoons. Powders: 500mg (two 00 capsules or one-third teaspoon). Thrice daily.

Formula (2). Dandelion 2; Meadowsweet 1; Goldenseal quarter. Dose: as above. ... monosodium glutamate syndrome

Nervous Bowel Syndrome

Frequent urging to stool due to nervous irritability or emotional distress.

Indicated: astringents, nerve relaxants.

Teas. Hops, Vervain, Chamomile, Cranesbill.

Tablets/capsules. Chamomile, Calamus, Wild Yam, Fenugreek.

Formula. Bayberry 2; Wild Yam 1; Valerian half. Dose: Liquid extracts: 1-2 teaspoons. Tinctures: 2-3 teaspoons. Powders: 750mg (three 00 capsules or half a teaspoon). Thrice daily.

Tincture. Black Catechu BHP (1983). 1:5 in 45 per cent alcohol. Dose 2.5 to 5ml in water, thrice daily. Fenulin. (Gerard House)

Diet. Slippery Elm gruel.

Supplements. Vitamins A, B6, C, Calcium, Dolomite. ... nervous bowel syndrome

Dressler’s Syndrome

An uncommon disorder, also known as postinfarction syndrome, that may occur after a myocardial infarction (heart attack) or heart surgery.

It is characterized by fever, chest pain, pericarditis, and pleurisy.

Treatment is with aspirin or, in severe cases, with corticosteroid drugs.... dressler’s syndrome

Ehlers–danlos Syndrome

An inherited disorder of collagen, the most important structural protein in the body. Affected individuals have abnormally stretchy, thin skin that bruises easily. Wounds are slow to heal and leave paper-thin scars, and the joints are loose and prone to recurrent dislocation. Sufferers bleed easily from the gums and digestive tract. Ehlers–Danlos syndrome is most often inherited in an autosomal dominant pattern (see genetic disorders). There is no known specific treatment.... ehlers–danlos syndrome

Brain Syndrome, Organic

Disorder of consciousness, intellect, or mental functioning that is of organic (physical), as opposed to psychiatric, origin. Causes include degenerative diseases, such as Alzheimer’s disease; infections; certain drugs; or the effects of injury, stroke, or tumour. Symptoms range from mild confusion to stupor or coma. They may also include disorientation, memory loss, hallucinations, and delusions (see delirium). In the chronic form, there is a progressive decline in intellect, memory, and behaviour (see dementia). Treatment is more likely to be successful with the acute form. In chronic cases, irreversible brain damage may already have occurred. (See also psychosis.)... brain syndrome, organic

Floppy Valve Syndrome

See mitral valve prolapse.... floppy valve syndrome

Guillain–barré Syndrome

A rare condition affecting the peripheral nerves (see peripheral nervous system) that causes weakness, usually in the limbs. The cause is believed to be an allergic reaction to an infection, usually viral; the nerves are damaged by antibodies produced by the body to eliminate the infection. In most cases, the disease develops 2 or 3 weeks after the onset of infection. Weakness, often accompanied by numbness and tingling, usually starts in the legs and spreads to the arms. The weakness may become progressively worse, resulting in paralysis. The muscles of the face and those controlling speech, swallowing, and breathing may also be affected.

Diagnosis of Guillain–Barré syndrome is confirmed by electrical tests to measure how fast nerve impulses are being conducted, or by a lumbar puncture. Most people recover fully with only supportive treatment. However, in severe cases, treatment with plasmapheresis or immunoglobulin may be given. Mechanical ventilation may be needed to aid breathing if the respiratory muscles and diaphragm are severely affected. Some people are left with permanent weakness in affected areas and/or suffer from further attacks of the disease.... guillain–barré syndrome

Haemolytic–uraemic Syndrome

A rare disease in which red blood cells are destroyed prematurely and the kidneys are damaged, causing acute kidney failure. Thrombocytopenia can also occur. Haemolytic–uraemic syndrome most commonly affects young children and may be triggered by a serious bacterial or viral infection. Symptoms include weakness, lethargy, and a reduction in the volume of urine. Seizures may occur. Blood and urine tests can determine the degree of kidney damage. Dialysis may be needed until the kidneys have recovered. Most patients recover normal renal function.... haemolytic–uraemic syndrome

Hand–arm Vibration Syndrome

Pain and numbness in the hand and arm due to prolonged use of vibrating tools. Symptoms often also include blue or white coloration of the fingers and a tingling sensation in affected areas. Hand–arm vibration syndrome tends to develop slowly over years and is the result of repeated damage to blood vessels and nerves. Exposure to cold tends to aggravate the condition. There is no specific treatment, but avoiding vibrating tools is essential to prevent the disease progressing. In some cases, calcium channel blockers may help relieve some symptoms.... hand–arm vibration syndrome

Hypoplastic Left-heart Syndrome

A very serious form of congenital heart disease (see heart disease, congenital). The baby is born with a poorly formed left ventricle, often associated with other heart defects. The aorta is malformed and blood can reach it only via a duct (the ductus arteriosus) that links the aorta to the pulmonary artery.

At birth, the baby may seem healthy. However, within a day or 2 the ductus arteriosus naturally closes off and the baby collapses, becoming pale and breathless. In most cases, hypoplastic left-heart syndrome cannot be treated surgically, and most affected babies die within a week. A few infants have been treated with heart transplants.... hypoplastic left-heart syndrome

Laurence–biedl–moon Syndrome

A rare inherited disorder characterized by increasing obesity, retinitis pigmentosa that may lead to blindness, learning difficulties, polydactyly, and hypogonadism.

(See also genetic disorders.)... laurence–biedl–moon syndrome

Mallory–weiss Syndrome

A tear at the lower end of the oesophagus, causing vomiting of blood. The syndrome is commonly caused by retching and vomiting after drinking excessive amounts of alcohol. Less often, violent coughing, a severe asthma attack, or epileptic convulsions may be the cause.

An endoscope is passed down the oesophagus to confirm the diagnosis. The tear generally heals within 10 days and no special treatment is usually required. However, a blood transfusion may sometimes be necessary.... mallory–weiss syndrome

Meig’s Syndrome

A rare condition in which a tumour of an ovary is accompanied by ascites and a pleural effusion. The fluid usually disappears when the tumour is removed.... meig’s syndrome

Milk–alkali Syndrome

A rare type of hypercalcaemia accompanied by alkalosis and kidney failure. The syndrome is due to excessive, long-term intake of calciumcontaining antacid drugs and milk. It is most common in people with a peptic ulcer and associated kidney disorders. Symptoms include weakness, muscle pains, irritability, and apathy. Treatment is to reduce milk and antacid intake.... milk–alkali syndrome

Myofascial Pain Syndrome

See temporomandibular joint syndrome.... myofascial pain syndrome

Organic Brain Syndrome

See brain syndrome, organic.... organic brain syndrome

Painful Arc Syndrome

A condition in which pain occurs when the arm is raised between 45 and 160 degrees from the side. The usual cause is an inflamed

tendon or bursa around the shoulder joint being squeezed between the scapula and humerus.

Treatment includes physiotherapy and injection of corticosteroid drugs.... painful arc syndrome

Peutz–jeghers Syndrome

A very rare, inherited condition in which polyps occur in the gastrointestinal tract and small, flat, brown spots appear on the lips and in the mouth. Occasionally the polyps bleed, or cause abdominal pain or intussusception. Tests include barium X-ray examination and endoscopy. Bleeding polyps may be removed.... peutz–jeghers syndrome

Pickwickian Syndrome

An unusual disorder characterized by extreme obesity, shallow breathing, and sleep apnoea.

The cause is unclear.

Symptoms usually improve with weight loss.... pickwickian syndrome

Plummer–vinson Syndrome

Difficulty in swallowing due to webs of tissue forming across the upper oesophagus. The syndrome often occurs with severe iron-deficiency anaemia and affects middle-aged women.... plummer–vinson syndrome

Postmyocardial Infarction Syndrome

Another name for Dressler’s syndrome.... postmyocardial infarction syndrome

Shoulder–hand Syndrome

Pain and stiffness affecting one shoulder and the hand on the same side; the hand may also become hot, sweaty, and swollen. Arm muscles may waste through lack of use (see Sudeck’s atrophy). The cause of shoulder–hand syndrome is unknown, but it may occur as a complication of myocardial infarction, stroke, herpes zoster, or shoulder injury. Recovery usually occurs in about 2 years. This period may be shortened by physiotherapy and corticosteroid drugs. In rare cases, a cervical sympathectomy is performed.... shoulder–hand syndrome

Shy–drager Syndrome

A rare degenerative disorder of unknown cause that progressively damages the autonomic nervous system. It begins gradually at age 60–70 and is more common in men. Symptoms include dizziness and fainting due to postural hypotension, urinary incontinence, impotence, reduced ability to sweat, and parkinsonism. The condition eventually leads to disability, and sometimes premature death. There is no cure or means of slowing degeneration, but many symptoms are relieved by drugs.... shy–drager syndrome

Sick Building Syndrome

A collection of symptoms reported by some workers in office buildings.

Symptoms include loss of energy, headaches, and dry, itching eyes, nose, and throat.

The cause is unknown, but various factors are involved, including air conditioning, passive smoking, lack of natural ventilation and light, and psychological factors.... sick building syndrome

Sick Sinus Syndrome

Abnormal function of the heart’s sinoatrial node that leads to episodes of bradycardia (slow heart-rate), alternating bradycardia and tachycardia (fast heart-rate), or very short episodes of cardiac arrest.

The cause is usually coronary artery disease, but may be a cardiomyopathy.

Symptoms may include lightheadedness, fainting, and palpitations.

The diagnosis is confirmed by a 24-hour ECG recording.

Treatment is usually by antiarrhythmic drugs and the fitting of an artificial pacemaker.... sick sinus syndrome

Stevens–johnson Syndrome

A rare, life-threatening form of erythema multiforme characterized by severe blisters and bleeding in the mucous membranes of the eyes, mouth, nose, and genitals.... stevens–johnson syndrome

Stokes–adams Syndrome

Recurrent episodes of temporary loss of consciousness caused by insufficient blood flow from the heart to the brain. This is due to irregularity of the heartbeat (see arrhythmia, cardiac) or to complete heart block.

Most people with the syndrome are fitted with a pacemaker to prevent attacks.... stokes–adams syndrome

Sturge–weber Syndrome

A rare, congenital condition that affects the skin and the brain. Characteristically, a large purple birthmark (port wine stain) extends over one side of the face, including the eye. Malformation of cerebral blood vessels may cause weakness on one side of the body, progressive mental handicap, and epilepsy. Glaucoma may develop in the affected eye, leading to loss of vision.

Seizures can usually be controlled with anticonvulsant drugs.

In severe cases, brain surgery may be necessary.... sturge–weber syndrome

Supraspinatus Syndrome

See painful arc syndrome.... supraspinatus syndrome

Thoracic Outlet Syndrome

A condition in which pressure on the brachial plexus causes pain in the arms and shoulders, pins-and-needles sensation in the fingers, and weakness of grip and other hand movements. Severe symptoms are usually caused by a cervical rib. Thoracic outlet syndrome may also be caused by drooping of the shoulders, an enlarged scalenus muscle in the neck, or a tumour.The condition is made worse by lifting and carrying heavy loads or by increases in body weight.

Treatment of thoracic outlet syndrome usually consists of exercises to improve posture, sometimes together with nonsteroidal anti-inflammatory drugs and muscle-relaxant drugs. Severe cases may be treated by surgical removal of the 1st rib.... thoracic outlet syndrome

Tmj Syndrome

See temporomandibular joint syndrome.... tmj syndrome

Trisomy 21 Syndrome

Another name for Down’s syndrome.... trisomy 21 syndrome

Urethral Syndrome, Acute

A set of symptoms, usually affecting women, that are very similar to cystitis but which occur in the absence of infection.... urethral syndrome, acute

Zollinger–ellison Syndrome

A rare condition characterized by severe and recurrent peptic ulcers in the stomach, duodenum, and jejunum (the 2nd part of the small intestine). Zollinger–Ellison syndrome is caused by 1 or more tumours in the pancreas that secrete the hormone gastrin. Gastrin stimulates production of large quantities of acid by the stomach, which leads to ulceration. The high levels of acid in the digestive tract often also cause diarrhoea.

The tumours are cancerous, but of a slow-growing type.

If possible, they are removed surgically.

Proton pump inhibitor drugs are given to treat the ulcers.... zollinger–ellison syndrome

Acquired Immune Deficiency Syndrome

see AIDS.... acquired immune deficiency syndrome

Acute Coronary Syndrome

a combination of angina (unstable or stable), non-S–T elevation *myocardial infarction (NSTEMI), and S–T elevation myocardial infarction (STEMI). It implies the presence of coronary artery disease.... acute coronary syndrome

Acute Respiratory Distress Syndrome

see adult respiratory distress syndrome.... acute respiratory distress syndrome

Adams–stokes Syndrome

see Stokes–Adams syndrome.... adams–stokes syndrome

Adie’s Syndrome

(Holmes-Adie syndrome) an abnormality of the pupils of the eyes, often affecting only one eye. The affected pupil is dilated and reacts slowly to light; the response on convergence *accommodation of the eyes is also slow (see tonic pupil). Tendon reflexes may be absent. The condition is almost entirely restricted to women. [W. J. Adie; Sir G. M. Holmes (1876–1965), British neurologist]... adie’s syndrome

Wernicke–korsakoff Syndrome

An uncommon brain disorder almost always related to malnutrition occurring in chronic alcohol dependence, but occasionally due to that which occurs in other conditions, such as cancer. Wernicke–Korsakoff syndrome is caused by deficiency of thiamine (see vitamin B complex), which affects the brain and nervous system.The disease consists of 2 stages: Wernicke’s encephalopathy and Korsakoff’s psychosis. Wernicke’s encephalopathy usually develops suddenly and produces nystagmus (abnormal, jerky eye movements), ataxia (difficulty in coordinating body movements), slowness, and confusion. Sufferers usually have signs of neuropathy, such as loss of sensation, pins-and-needles, or impaired reflexes. The level of consciousness falls progressively and may lead to coma and death unless treated. The condition is a medical emergency. Treatment with high doses of intravenous thiamine often reverses most of the symptoms, sometimes within a few hours.

Korsakoff’s psychosis may follow Wernicke’s encephalopathy if treatment is not begun promptly enough. Symptoms consist of severe amnesia, apathy, and disorientation. Korsakoff’s psychosis is usually irreversible.... wernicke–korsakoff syndrome

Withdrawal Syndrome

Unpleasant mental and physical symptoms experienced when a person stops using a drug on which he or she is dependent (see drug dependence). Withdrawal syndrome most commonly occurs in those with alcohol dependence or dependence on opioids, in smokers, and in people addicted to tranquillizers, amfetamines, cocaine, marijuana, and caffeine.

Alcohol withdrawal symptoms start 6–8 hours after cessation of intake and may last up to 7 days. They include trembling of the hands, nausea, vomiting, sweating, cramps, anxiety, and, sometimes, seizures. (See also confusion, delirium tremens, and hallucinations.)

Opioid withdrawal symptoms start after 8–12 hours and may last for 7–10 days. Symptoms include restlessness, sweating, runny eyes and nose, yawning, diarrhoea, vomiting, abdominal cramps, dilated pupils, loss of appetite, irritability, weakness, tremor, and depression.

Withdrawal symptoms from barbiturate drugs and meprobamate start after 12–24 hours, beginning with tremor, anxiety, restlessness, and weakness, sometimes followed by delirium, hallucinations, and, occasionally, seizures. A period of prolonged sleep occurs 3–8 days after onset. Withdrawal from benzodiazepine drugs may begin much more slowly and can be life-threatening.

Withdrawal symptoms from nicotine develop gradually over 24–48 hours and include irritability, concentration problems, frustration, headaches, and anxiety. Discontinuation of cocaine or amfetamines results in extreme tiredness, lethargy, and dizziness. Cocaine withdrawal may also lead to tremor, severe depression, and sweating.

Withdrawal symptoms from marijuana include tremor, nausea, vomiting, diarrhoea, sweating, irritability, and sleep problems. Caffeine withdrawal may lead to tiredness, headaches, and irritability.

Severe withdrawal syndromes require medical treatment.

Symptoms may be suppressed by giving the patient small quantities of the drug he or she had been taking.

More commonly, a substitute drug is given, such as methadone for opioid drugs or diazepam for alcohol.

The dose of the drug is then gradually reduced.... withdrawal syndrome

Adult Respiratory Distress Syndrome

(acute respiratory distress syndrome, ARDS) a form of *acute respiratory failure that occurs after a precipitating event, such as trauma, aspiration, or inhalation of a toxic substance; it is particularly associated with septic shock. Lung injury is characterized by reduced oxygen in the arteries, reduced lung volume, and decreased lung compliance, and diffuse infiltrates are seen on a chest X-ray. Treatment is correction of the original cause, volume replacement, diuretics, oxygen, and mechanical ventilation.... adult respiratory distress syndrome

Aicardi Syndrome

a syndrome caused by abnormal development of the brain in which the two halves of the brain do not connect. The *corpus callosum is absent. Affected individuals suffer from learning disability and seizures. They may also have associated abnormalities of the eyes and spine. [J. D. Aicardi (20th century), French neurologist]... aicardi syndrome

Alagille Syndrome

(arteriohepatic dysplasia) an inherited condition in which the bile ducts, which drain the liver, become progressively smaller, causing increased *jaundice. It is associated with abnormalities of other organs, such as the heart, kidneys, eyes, and spine. [D. Alagille (1925–2005), French physician]... alagille syndrome

Alien Limb Syndrome

a rare neurological condition in which upper limb movements occur without an individual’s awareness of or control over the actions. In extreme cases, a person will deliberately use their other arm to restrain the ‘alien limb’. It is caused by damage to connections between the cerebral hemispheres or the frontal or occipital brain areas and can occur following stroke or in dementia.... alien limb syndrome

Alport’s Syndrome

a hereditary disease that causes *nephritis accompanied by deafness and, less commonly, ocular defects, such as cataracts. Affected males usually develop end-stage renal failure and, unless treated with a kidney transplant, die before the age of 40. Females have a better prognosis. [A. C. Alport (1880–1959), South African physician]... alport’s syndrome

Androgen Insensitivity Syndrome

(AIS) an X-linked (see sex-linked) disorder in which the body does not react to androgens because of structural abnormalities in androgen receptors. In its most extreme form, complete AIS (formerly known as testicular feminization syndrome), there is a fully female body appearance with breast development and a short vagina (but no uterus; testes are present internally). Psychosexuality is female orientated. Partial AIS is also known as *Reifenstein’s syndrome.... androgen insensitivity syndrome

Angelman Syndrome

a neurogenetic disorder characterized by severe developmental delay, absence of speech, seizures, a jerky puppet-like gait (see ataxia), and paroxysmal laughter (giving it the alternative name happy puppet syndrome). Affected children commonly have cranial and facial abnormalities, such as a small or flattened head. Angelman syndrome is a prototype of genomic *imprinting: a deletion on maternal chromosome 15 is the cause in a majority of cases. [H. Angelman (1915–96), British paediatrician]... angelman syndrome

Antiphospholipid Antibody Syndrome

(APS, Hughes syndrome) an autoimmune disease in which the presence of antibodies against phospholipid (see anticardiolipin antibodies; lupus anticoagulant) is associated with a tendency to arterial or venous thrombosis and, in women of childbearing age, to recurrent miscarriage. APS may be primary or occur in association with systemic lupus erythematosus (SLE) or other connective-tissue diseases. Treatment is by low-dose aspirin or heparin.... antiphospholipid antibody syndrome

Anton’s Syndrome

see anosognosia. [G. Anton (1858–1933), Austrian neurologist]... anton’s syndrome

Apert Syndrome

a hereditary disorder characterized by *craniosynostosis, underdevelopment of the midfacial tissues resulting in a sunken facial appearance, and *syndactyly (fusion) of 2–5 digits (‘mitten glove’). Variable mental deficits and cleft palate may result. The condition may be associated with *Crouzon syndrome, in which case the fusion of the digits is less marked. See also acrocephalosyndactyly. [E. Apert (1868–1940), French physician]... apert syndrome

Asherman Syndrome

a condition in which *amenorrhoea and infertility follow a major haemorrhage in pregnancy. It may result from overvigorous curettage of the uterus in an attempt to control the bleeding. This removes the lining, the walls adhere, and the cavity is obliterated to a greater or lesser degree. Some 50% of such patients are subsequently infertile, and of those who become pregnant, only a minority achieve an uncomplicated delivery. Compare Sheehan’s syndrome. [J. G. Asherman (20th century), Czechoslovakian gynaecologist]... asherman syndrome

Atypical Mole Syndrome

(dysplastic naevus syndrome) a condition in which patients have numerous moles, some of which are relatively large and irregular in shape or pigmentation. There may be a family history of this syndrome or of malignant *melanoma.... atypical mole syndrome

Balint’s Syndrome

a disorder, arising from bilateral occipito-parietal *strokes, characterized by inability to perceive the visual field as a whole (simultanagnosia), difficulty in fixating the eyes (oculomotor apraxia), and inability to move the hand to a specific object using vision (optic ataxia). [R. Balint (1874–1929), Hungarian neurologist]... balint’s syndrome

Ballantyne Syndrome

(maternal mirror syndrome) a condition that occurs in cases of *hydrops fetalis when the maternal condition begins to mirror the state of the fetus. The maternal signs and symptoms are similar to those of *pre-eclampsia, including vomiting, hypertension, oedema, and proteinuria.... ballantyne syndrome

Banti’s Syndrome

a disorder in which enlargement and overactivity of the spleen occurs as a result of increased pressure within the splenic vein (see hypersplenism; splenomegaly). It arises primarily in children and occurs with *cirrhosis of the liver. [G. Banti (1852–1925), Italian pathologist]... banti’s syndrome

Bartter Syndrome

an inherited condition of the kidney, which causes abnormalities in the excretion and reabsorption of salts from the blood. This results in lowered levels of potassium and chloride and an increased level of calcium. The baby fails to grow properly and becomes progressively weaker and dehydrated. Treatment consists of correcting the salt imbalance with appropriate supplements. [F. C. Bartter (1914–83), US physician]... bartter syndrome

Battered Baby Syndrome

see nonaccidental injury.... battered baby syndrome

Binge–purge Syndrome

see bulimia.... binge–purge syndrome

Bloom’s Syndrome

a specific abnormality of chromosome 15 in which the individual suffers from recurrent infections, blisters on the hands and lips, and poor growth. Such children have a much higher than normal risk of developing cancer. [D. Bloom (20th century), US dermatologist]... bloom’s syndrome

Boerhaave’s Syndrome

spontaneous rupture (see perforation) of the gullet (oesophagus) following forceful retching and vomiting. Usual symptoms are severe chest and upper abdominal pain (that is aggravated by swallowing), fever, and shortness of breath. Surgical *emphysema is often present. Diagnosis is usually made with CT scanning. Surgery is required in most of the cases, combined with broad-spectrum antibiotics and parenteral *nutrition. [H. Boerhaave (1668–1738), Dutch physician]... boerhaave’s syndrome

Brown-séquard Syndrome

the neurological condition resulting when the spinal cord has been damaged. In those parts of the body supplied by the damaged segment there is a flaccid weakness and loss of feeling in the skin. Below the lesion there is a spastic paralysis on the same side and a loss of pain and temperature sensation on the opposite side. The causes include trauma and multiple sclerosis. [C. E. Brown-Séquard (1818–94), French physiologist]... brown-séquard syndrome

Brown’s Syndrome

a condition, usually congenital, in which the tendon sheath of the superior oblique muscle of the *eye does not relax, thus limiting the elevation of the eye, especially in adduction. [H. W. Brown (20th century), US ophthalmologist]... brown’s syndrome

Budd–chiari Syndrome

a rare condition that follows occlusion of the hepatic veins by thrombosis or nonthrombotic processes. In the majority of cases the cause is unknown but hypercoagulable states, local or disseminated malignancy, and infection are possible causes. It is characterized by abdominal pain, abdominal distension due to ascites, and jaundice. Clinical examination may reveal hepatomegaly, and *hepatic encephalopathy. [G. Budd (1808–82), British physician; H. Chiari (1851–1916), German pathologist]... budd–chiari syndrome

Buried Bumper Syndrome

a condition in which feeding via a PEG tube (see gastrostomy) is blocked. It occurs when the internal retention disc (bumper) of the tube, which holds it in place inside the stomach, is overgrown by hypertrophic gastric mucosa and becomes embedded in the stomach wall. This serious complication requires surgical removal of the tube. It can be prevented by correct tube care: advancing, retracting, and rotating of the tube.... buried bumper syndrome

Capgras’ Syndrome

(illusion of doubles) the delusion that a person closely involved with the patient has been replaced by an identical-looking impostor. It is often, but not necessarily, a symptom of paranoid *schizophrenia. [J. M. J. Capgras (1873–1950), French psychiatrist]... capgras’ syndrome

Cardiotomy Syndrome

(postcardiotomy syndrome) a condition that may develop weeks or months after heart surgery and is characterized by fever and *pericarditis. Pneumonia and pleurisy may form part of the syndrome. It is thought to be an *autoimmune disease and may be recurrent. A similar syndrome (Dressler’s syndrome) may follow myocardial infarction. It may respond to anti-inflammatory drugs.... cardiotomy syndrome

Caroli’s Syndrome

an inherited condition in which the bile ducts, which drain the liver, are widened and there are fibrous changes in the liver and cysts within the kidneys. Compare Caroli’s disease. [J. Caroli]... caroli’s syndrome

Cauda Equina Syndrome

damage to the *cauda equina, the nerve roots arising from the terminal end of the spinal cord, due to trauma or compression. Without urgent surgical intervention, it can result in paralysis, loss of sensation in the legs, and bladder and bowel incontinence.... cauda equina syndrome

Chediak–higashi Syndrome

a rare fatal hereditary (autosomal *recessive) condition causing enlargement of the liver and spleen, albinism, and abnormalities of the eye. It is thought to be due to a disorder of glycolipid metabolism. [A. Chediak (20th century), Cuban physician; O. Higashi (20th century) Japanese paediatrician]... chediak–higashi syndrome

Churg–strauss Syndrome

(eosinophilic granulomatosis with polyangiitis) a systemic autoimmune *vasculitis comprising severe asthma, allergic rhinitis, and sinusitis associated with an increased *eosinophil count in the peripheral blood and eosinophilic deposits in the small vessels of the lungs. It usually responds to oral corticosteroids. [J. Churg (1910–2005) and L. Strauss (1913–85), US pathologists]... churg–strauss syndrome

Cockayne’s Syndrome

a hereditary disorder (inherited as an autosomal *recessive condition) associated with *trisomy of chromosome no. 20. Clinical features include *epidermolysis bullosa, dwarfism, learning disabilities, and pigmentary degeneration of the retina. [E. A. Cockayne (1880–1956), British physician]... cockayne’s syndrome

Coffin–lowry Syndrome

(CLS) an inherited disease, more severe in males, that results in developmental delay and profound learning disability. It is characterized by distinctive facial anomalies, short stature, microcephaly, and *kyphoscoliosis; some patients have episodes of collapse when startled or excited (stimulus-induced drop episodes; SIDE). [G. S. Coffin (1923– ), US paediatrician; R. B. Lowry (1932– ), British geneticist]... coffin–lowry syndrome

Cogan’s Syndrome

a disorder in which *keratitis and iridocyclitis (see uveitis) are associated with tinnitus, vertigo, and bilateral sensorineural deafness. [D. G. Cogan (1908–93), US ophthalmologist]... cogan’s syndrome

Crest Syndrome

a disease characterized by the association of *calcinosis, Raynaud’s phenomenon (see Raynaud’s disease), (o)esophageal malfunction, sclerodactyly (tapering fingers), and *telangiectasia (see telangiectasis). It represents a variant of *systemic sclerosis and is also called limited cutaneous systemic sclerosis. It may be associated with severe pulmonary hypertension.... crest syndrome

Crigler–najjar Syndrome

a rare genetic disease in which the liver enzyme glucuronyl transferase, responsible for dealing with bilirubin, is absent. A large amount of unconjugated bilirubin accumulates in the blood leading to refractory jaundice in early childhood. The definitive treatment is a liver transplant; if left untreated, life expectancy is usually less than two years. [J. F. Crigler and V. A. Najjar (20th century), US paediatricians]... crigler–najjar syndrome

Crouzon Syndrome

(craniofacial dysostosis) a genetic disorder characterized by premature fusion of the skull sutures, leading to distortion in the shape of the head. It is a generalized form of *craniosynostosis, with a wide skull, high forehead, widely spaced eyes (ocular *hypertelorism), and *exophthalmos.See also Apert syndrome. [O. Crouzon (1874–1938), French neurologist]... crouzon syndrome

Dandy–walker Syndrome

a form of *cerebral palsy in which the *cerebellum is usually the part of the brain affected. It leads to unsteadiness of balance and an abnormal gait and may be associated with *hydrocephalus. [W. E. Dandy (1886–1946) and A. E. Walker (1907–95), US surgeons]... dandy–walker syndrome

De Clérambault Syndrome

see erotomania. [G. G. de Clérambault (1872–1934), French physician]... de clérambault syndrome

Complex Regional Pain Syndrome

(CRPS, reflex sympathetic dystrophy, RSD, Sudek’s atrophy) neurological dysfunction in a limb following trauma, surgery, or disease, characterized by intense burning pain, swelling, stiffness, and sweaty shiny mottled skin. It is caused by overactivity of the sympathetic nervous system. The *ESR is often elevated, X-rays may reveal some patchy osteoporosis, and a bone scan usually demonstrates increased blood flow. Early treatment with splinting and physiotherapy are essential, in combination with *sympatholytic drugs, corticosteroids, and regional sympathetic blocks; *sympathectomy may be required in chronic cases.... complex regional pain syndrome

Denys–drash Syndrome

a rare disorder consisting of the triad of *nephroblastoma (Wilms’ tumour), congenital nephropathy, and intersex disorders, resulting from mutations in the Wilm’s tumour suppressor gene (WT1). Incomplete forms exist; congenital nephropathy, with diffuse mesangial sclerosis, is the constant feature with either Wilms’ tumour or intersex disorders, usually in the form of male *pseudohermaphroditism. [P. Denys (20th century), French physician; A. Drash (20th century), British physician]... denys–drash syndrome

Diabetic Hand Syndrome

the combination of features, often found in the hands of long-standing diabetic subjects, consisting of *Dupuytren’s contractures, knuckle pads, *carpal tunnel syndrome, *cheiroarthropathy, and sclerosing *tenosynovitis.... diabetic hand syndrome

Diabetic Holiday Foot Syndrome

a condition in which patients with diabetic sensory polyneuropathy (see diabetic neuropathy) suffer significant trauma to their insensate feet through holiday activities. These may include walking on hot flagstones or sand and wearing ill-fitting shoes. The condition may be prevented with prior education and advice and by maintaining safe footcare practices.... diabetic holiday foot syndrome

Didmoad Syndrome

see Wolfram syndrome.... didmoad syndrome

Di George Syndrome

a hereditary condition resulting in an inability to fight infections (immunodeficiency) associated with absence of the parathyroid gland and the thymus, abnormalities of the heart, and low calcium levels. Affected children are prone to *Candida infections and often present with *failure to thrive. The condition has also been named CATCH-22: Cardiac abnormalities, Abnormal facies, T-cell deficiency (from absent thymus), Cleft palate, Hypocalcaemia, chromosome 22 (in which the defect lies). [A. M. di George (1921–2009), US paediatrician]... di george syndrome

Discontinuation Syndrome

symptoms that arise from the sudden cessation of certain centrally acting drugs, such as antidepressants, beta blockers, and antihypertensives. Experiences include a rebound effect in which the original symptoms return but are temporarily worse than before, flulike symptoms and headaches, nausea, and giddiness that is usually short-lived and stops within 36 hours. This syndrome is not a sign of addiction and it does not indicate dependency.... discontinuation syndrome

Disembarkment Syndrome

see mal de debarquement.... disembarkment syndrome

Duane’s Syndrome

an abnormality of the eye muscles leading most commonly to restricted abduction (outward movement of the eye away from the midline) of one eye. On attempted adduction (inward movement of the eye towards the midline) of that same eye there is retraction of the eye into the orbit and narrowing of the opening between the eyelids. [A. Duane (1858–1926), US ophthalmologist]... duane’s syndrome

Dysmnesic Syndrome

a disorder of memory in which new information is not learned but old material is well remembered. See Korsakoff’s syndrome.... dysmnesic syndrome

Eagle–barrett Syndrome

see prune belly syndrome.... eagle–barrett syndrome

Edwards’ Syndrome

a condition resulting from a genetic abnormality in which an extra chromosome is present – there are three no. 18 chromosomes instead of the usual two. Affected babies, who rarely survive, have a characteristic abnormally shaped head, low birth weight, prominent heels (‘rocker-bottom feet’), heart abnormalities, and severe learning disabilities. Prenatal screening (by *nuchal translucency scanning) and diagnosis (by *amniocentesis or *chorionic villus sampling) are possible. [J. H. Edwards (1928–2007), British geneticist]... edwards’ syndrome

Ekbom’s Syndrome

1. see restless legs syndrome. 2. see delusional infestation. [K. A. Ekbom (1907–77), Swedish neurologist]... ekbom’s syndrome

Empty Nose Syndrome

an *iatrogenic condition that can follow surgery to widen the internal nasal cavity, particularly *turbinectomy. It is characterized by a sensation of dryness, and although the nasal cavity has been enlarged there is often a paradoxical feeling of nasal obstruction.... empty nose syndrome

Empty Sella Syndrome

a congenital malformation of the bony structure (the *sella turcica) that houses the pituitary gland such that the space is largely filled with cerebrospinal fluid, which squashes the usually spherical gland into a flattened shape against the floor of the sella. It is usually associated with enlargement of the sella, which can be seen on lateral X-ray. Only 10% of cases of this condition have defective pituitary function.... empty sella syndrome

Ehlers–danlos Syndrome

any one of a rare group of inherited (autosomal *dominant or autosomal *recessive) disorders of the connective tissue involving abnormal or deficient *collagen, the protein that gives the body tissues strength. There are several types of differing severity. The skin of affected individuals is very elastic but also very fragile: it bruises easily and scars poorly, the scars often being paper-thin. The joints of those affected tend to be very mobile (double-jointed) and dislocate easily. In some types the uterus or bowel can rupture or the valves in the heart can be weaker than normal. [E. L. Ehlers (1863–1937), Danish dermatologist; H. A. Danlos (1844–1912), French dermatologist]... ehlers–danlos syndrome

Euthyroid Sick Syndrome

(sick euthyroid syndrome) a syndrome characterized by alteration in the thyroid function tests in which the level of triiodothyronine is markedly reduced, thyroxine is slightly reduced, and thyroid-stimulating hormone is reduced or normal. This syndrome is commonly seen in nonthyroidal illness, due to altered metabolism and transport of the thyroid hormones, but can be mistaken for secondary *hypothyroidism.... euthyroid sick syndrome

Exploding Head Syndrome

(EHS, episodic cranial sensory shock) an auditory *hallucination, characterized by the perception of a sudden loud noise in the head or ears, that is experienced during a transition between sleep stages. The cause is not currently known.... exploding head syndrome

Felty’s Syndrome

a disorder characterized by enlargement of the spleen (*splenomegaly), rheumatoid arthritis, and a decrease in the number of neutrophils in the blood (see neutropenia). [A. R. Felty (1895–1964), US physician]... felty’s syndrome

Fitz-hugh–curtis Syndrome

a condition in which infection due to *pelvic inflammatory disease spreads to the right upper quadrant of the *abdomen. Adhesions form between the liver and the anterior abdominal wall causing *perihepatitis, with pain and liver function abnormalities. [T. Fitz-Hugh and A. H. Curtis (20th century), US physicians]... fitz-hugh–curtis syndrome

Floppy Baby Syndrome

see amyotonia congenita.... floppy baby syndrome

Fröhlich’s Syndrome

a disorder of the *hypothalamus (part of the brain) affecting males: the boy is overweight with sexual development absent and disturbances of sleep and appetite. Medical name: dystrophia adiposogenitalis. [A. Fröhlich (1871–1953), Austrian neurologist]... fröhlich’s syndrome

Froin’s Syndrome

a condition in which the cerebrospinal fluid (CSF) displays a combination of yellow colour and high protein content. It is characteristic of a block to the spinal circulation of CSF often caused by a tumour. [G. Froin (1874–1932), French physician]... froin’s syndrome

Gardner–diamond Syndrome

(painful bruising syndrome, psychogenic purpura) a rare disorder, characterized by unexplained, recurrent, and painful bruising, typically arising after physical and/or psycho-emotional stress. Classically, ecchymoses spontaneously appear and are associated with a prodrome of warmth and pain at the sites. The condition, which is seen primarily in young to middle-aged women, is induced by trauma and associated with *personality disorders. Research into the syndrome is sparse but recent publications suggest that only a minority of patients experience a serious reduction in their quality of life, that the condition seems to be dermal rather than systematic in most patients, and that it seems to be associated with ongoing stress. [L. K. Diamond (1902–1999), US paediatrician; F. H. Gardner (1919–2013), US haematologist]... gardner–diamond syndrome

Gardner’s Syndrome

a variant form of familial adenomatous *polyposis in which polyps in the colon are associated with fibromas, *sebaceous cysts, and *osteomas (benign tumours), especially of the skull and jaw. [E. J. Gardner (1909–89), US physician]... gardner’s syndrome

Gerstmann’s Syndrome

a group of symptoms that represent a partial disintegration of the patient’s recognition of his or her *body image. It consists of an inability to name the individual fingers, misidentification of the right and left sides of the body, and inability to write or make mathematical calculations (see acalculia; agraphia). It is caused by disease in the association area of the dominant (usually left) parietal lobe of the brain. [J. G. Gerstmann (1887–1969), Austrian neurologist]... gerstmann’s syndrome

Gerstmann–straussler–scheinker Syndrome

an autosomal *dominant condition that is caused by a mutation in the *prion protein gene and resembles *Creutzfeldt-Jakob disease (CJD). Patients present with cerebellar dysfunction (*ataxia and *dysarthria) and later develop dementia. They continue to deteriorate over several years, in contrast with patients with CJD, who deteriorate rapidly over periods of less than 12 months. [J. G. Gerstmann]... gerstmann–straussler–scheinker syndrome

Gilbert’s Syndrome

familial unconjugated hyperbilirubinaemia: a condition due to a congenital deficiency of the enzyme UDP glucuronyl transferase in liver cells that is inherited as an autosomal *dominant or autosomal *recessive characteristic. Patients become mildly jaundiced, especially if they fast, overexert themselves, or have concomitant infection. Most patients are diagnosed following investigation of mildly abnormal liver function tests. The condition is lifelong but of little clinical consequence. [N. A. Gilbert (1858–1927), French physician]... gilbert’s syndrome

Gordon’s Syndrome

(pseudohypoaldosteronism type II, chloride shunt syndrome) an autosomal *dominant condition associated with increased chloride absorption in the distal tubule leading to a syndrome of mild volume expansion, hypertension, and metabolic acidosis with otherwise normal renal function. Plasma *renin and *aldosterone are suppressed as a result of the volume expansion. Other features can include short stature, intellectual impairment, muscle weakness, and renal stones.... gordon’s syndrome

Gorlin’s Syndrome

a genetic condition characterized by disorders of the skin, bones, and nervous system, with a markedly increased risk of developing multiple *basal cell carcinomas. [R. J. Gorlin (1923– ), US pathologist]... gorlin’s syndrome

Hand–foot Syndrome

see palmoplantar erythrodysaesthesia.... hand–foot syndrome

Happy Puppet Syndrome

see Angelman syndrome.... happy puppet syndrome

Heerfordt’s Syndrome

a rare syndrome in which *sarcoidosis is associated with swelling of the parotid and other salivary glands, uveitis, fever, and paralysis of the facial nerve. It can be treated with steroids but generally resolves spontaneously.... heerfordt’s syndrome

Hepatorenal Syndrome

impairment of renal function, which can occur in acute or chronic liver disease. The condition is associated with intrarenal vasoconstriction and extrarenal vasodilation and hypotension, and the kidney disease is functional rather than structural in nature. There are two common clinical presentations. An acute form (type 1) is characterized by rapid spontaneous deterioration in renal function against a background of acute liver failure, acute alcoholic hepatitis, or acute decompensation of chronic cirrhotic liver disease. A chronic form (type 2) is characterized by insidious onset and slowly progressive deterioration in renal function. This is most often observed in patients with decompensated cirrhosis and portal hypertension. The prognosis of hepatorenal syndrome is extremely poor, and the best hope of survival is usually with liver transplantation.... hepatorenal syndrome

Hereditary Periodic Fever Syndromes

a group of rare inherited disorders characterized by recurrent attacks of fever and inflammation in the absence of infection. They include familial Mediterranean fever (see polyserositis), tumour necrosis factor receptor-associated periodic syndrome (TRAPS), and the cryopyrin-associated periodic syndrome (CAPS). Causative gene mutations have been identified.... hereditary periodic fever syndromes

Holmes-adie Syndrome

see Adie’s syndrome.... holmes-adie syndrome

Hughes Syndrome

see antiphospholipid antibody syndrome. [G. Hughes (21st century), British physician]... hughes syndrome

Hunter’s Syndrome

a hereditary disorder caused by deficiency of an enzyme that results in the accumulation of protein–carbohydrate complexes and fats in the cells of the body (see mucopolysaccharidosis). This leads to learning disability, enlargement of the liver and spleen, and prominent coarse facial features (gargoylism). The disease is *sex-linked, being restricted to males, although females can be *carriers. Medical name: mucopolysaccharidosis type II. [C. H. Hunter (1872–1955), US physician]... hunter’s syndrome

Hyper-igm Syndrome

an inherited immunodeficiency syndrome characterized by normal or high IgM levels with absence of IgA, IgG, and IgE (see immunoglobulin). Patients are susceptible to bacterial and opportunistic infections. Some cases are due to a mutation in the gene encoding the CD40 ligand, which is synthesized by *helper T cells and is involved in activation of B cells to produce circulating antibodies.... hyper-igm syndrome

Hyperviscosity Syndrome

a collection of symptoms resulting from an increase in the viscosity of blood. These symptoms include epistaxis (nosebleed), blurred vision, dizziness, headaches, drowsiness, confusion, and breathlessness. Hyperviscosity of the blood occurs in conditions such as polycythaemia, plasma-cell myeloma, leukaemia, and Waldenström’s macroglobulinaemia.... hyperviscosity syndrome

Kallmann’s Syndrome

a familial condition that is the most common form of isolated *gonadotrophin deficiency; it is combined with underdevelopment of the olfactory lobes, causing *anosmia. The syndrome is caused by a gene *deletion on the short arm of the X chromosome. Patients often present with delayed puberty. There is an association with *ichthyosis, learning disabilities, obesity, renal and skeletal abnormalities, and undescended testes, but these features are very variable. [F. J. Kallmann (1897–1965), US geneticist]... kallmann’s syndrome

Kartagener’s Syndrome

a hereditary condition in which the heart and other internal organs lie on the opposite side of the body to the norm (i.e. the heart lies on the right; see dextrocardia); it is associated with chronic sinusitis and bronchiectasis. [M. Kartagener (1897–1975), German physician]... kartagener’s syndrome

King–kopetzky Syndrome

see obscure auditory dysfunction.... king–kopetzky syndrome

Kleine–levin Syndrome

a rare episodic disorder characterized by periods (usually of a few days or weeks), in which sufferers eat enormously, sleep for most of the day and night, and may become more dependent or aggressive than normal. Between episodes they are usually quite unaffected. The disorder almost always resolves spontaneously. [W. Kleine (20th century), German neuropsychiatrist; M. Levin (20th century), US neurologist]... kleine–levin syndrome

Kobberling–dunnigan Syndrome

see lipodystrophy.... kobberling–dunnigan syndrome

Korsakoff’s Syndrome

an organic disorder affecting the brain that results in a memory defect in which new information fails to be learnt although events from the past are still recalled; *disorientation in time and place; and a tendency to unintentionally invent material to fill memory blanks (see confabulation). The commonest cause of the condition is untreated *Wernicke’s encephalopathy in the context of alcoholism. Large doses of thiamine are given as treatment. The condition often becomes chronic. [S. S. Korsakoff (1854–1900), Russian neurologist]... korsakoff’s syndrome

Kostmann’s Syndrome

(severe congenital neutropenia) a hereditary (autosomal *recessive) disorder characterized by severe *neutropenia. This results in frequent bacterial infections, and death often occurs before the age of six months.... kostmann’s syndrome

Laurence–moon–biedl Syndrome

an autosomal *recessive condition characterized by obesity, short stature, learning disabilities, *retinitis pigmentosa, *hypogonadism, and delayed puberty. [J. Z. Laurence (1830–74), British ophthalmologist; R. C. Moon (1844–1914), US ophthalmologist; A. Biedl (1869–1933), Austrian physician]... laurence–moon–biedl syndrome

Leigh Syndrome

a rare metabolic disorder that affects movement and development. Affected children are initially normal but lose coordination and balance as the disease progresses. There is no known cure at present. See also mitochondrial disorders. [D. Leigh (1915–98), British psychiatrist]... leigh syndrome

Leriche’s Syndrome

a condition in males characterized by absence of penile erection combined with absence of pulses in the femoral arteries and wasting of the buttock muscles. It is caused by occlusion of the abdominal aorta and iliac arteries. [R. Leriche (1879–1956), French surgeon]... leriche’s syndrome

Liddle’s Syndrome

a rare autosomal *dominant condition characterized by hypertension associated with hypokalaemia, metabolic alkalosis, and low levels of plasma *renin and *aldosterone. The hypertension often starts in infancy and is due to excess resorption of sodium and excretion of potassium by the renal tubules. The syndrome is caused by a single genetic mutation on chromosome 16, which results in dysregulation of a sodium channel in the distal convoluted tubule. Treatment is with a low salt diet and a potassium-sparing diuretic that directly blocks the sodium channel, such as amiloride or triamterene. [G. G. Liddle (1921–89), US endocrinologist]... liddle’s syndrome

Löfgren’s Syndrome

an acute form of *sarcoidosis characterized by fever, *erythema nodosum, enlarged lymph nodes near the inner border of the lungs, joint pain or inflammation, often involving the ankles, and *uveitis. Symptoms may resolve spontaneously after a few weeks or may need therapy with NSAIDs or low-dose corticosteroids. Recurrence may occur in a minority of patients. [S. Löfgren (1910–78), Swedish clinician]... löfgren’s syndrome

Long Qt Syndrome

prolongation of the *Q–T interval on the electrocardiogram. It indicates susceptibility to ventricular tachycardia (especially *torsades de pointes), ventricular fibrillation, and sudden death. It may be familial or caused by certain drugs (e.g. sotalol, amiodarone, certain antipsychotic drugs).... long qt syndrome

Lowe’s Syndrome

see Dent’s disease.... lowe’s syndrome

Lyell’s Syndrome

see toxic epidermal necrolysis. [A. Lyell (20th century), British dermatologist]... lyell’s syndrome

Lynch Syndrome

see hereditary nonpolyposis colorectal cancer.... lynch syndrome

Macleod’s Syndrome

(Swyer-James syndrome) pulmonary *emphysema affecting only one lung and beginning in childhood or in adolescence; it occurs secondarily to necrotizing bronchitis, probably caused by a virus. [W. M. Macleod (1911–77), British physician]... macleod’s syndrome

Mal De Debarquement Syndrome

(MdDS, disembarkment syndrome) a form of *vertigo in which sufferers experience a sensation of bobbing, rocking, or swaying after getting off a boat or other form of transport. The condition remains little understood.... mal de debarquement syndrome

Malignant Vasovagal Syndrome

see neurocardiogenic syncope.... malignant vasovagal syndrome

Mallory–weiss Syndrome

trauma of the mucosal lining at the junction of the oesophagus (gullet) and stomach following protracted vomiting and retching. It is associated with *haematemesis and rarely perforation of the oesophagus. [G. K. Mallory (1926– ), US pathologist; S. Weiss (1899–1942), US physician]... mallory–weiss syndrome

Marcus Gunn Jaw-winking Syndrome

a congenital condition characterized by drooping (*ptosis) of one eyelid. On opening or moving the mouth, the droopy lid elevates momentarily, resembling a wink. It is believed to be due to an abnormal innervation of the levator muscle by the trigeminal nerve. [R. Marcus Gunn (1850–1909), British ophthalmologist]... marcus gunn jaw-winking syndrome

Mayer–rokitansky–küster–hauser Syndrome

(Rokitansky–Küster–Hauser syndrome, Müllerian agenesis) congenital absence of the uterus and upper part of the vagina due to failure of development of the *Müllerian duct. It may be associated with skeletal, renal, and auditory abnormalities, but usually presents with amenorrhoea in a patient with otherwise normal secondary sexual characteristics. There is a multidisciplinary approach to treatment, with psychological support, counselling, discussion of creation of a ‘neovagina’ with gradual use of vaginal dilators, and/or surgical vaginal reconstruction. Surrogacy is the only option for childbearing, although oocyte donation from the mother to a surrogate can be discussed. [K. W. Mayer (1795–1868), German gynaecologist; K. von Rokitansky (1804–78), Austrian pathologist; H. Küster and G. A. Hauser (20th century), German gynaecologists]... mayer–rokitansky–küster–hauser syndrome

Mccune–albright Syndrome

polyostotic *fibrous dysplasia of long bones coupled with *café au lait spots and precocious puberty, occurring in both males and females. [D. J. McCune (1902–76), US paediatrician; F. Albright (1900–69), US physician]... mccune–albright syndrome

Meigs Syndrome

the rare combination of a benign ovarian *fibroma with *ascites and a right-sided pleural effusion. [J. V. Meigs (1892–1963), US gynaecologist]... meigs syndrome

Melkersson–rosenthal Syndrome

a rare disorder characterized by the occurrence together of facial paralysis, enlargement of the glottis, and swollen lips, which is due to lymphatic *stasis and the consequent build-up of protein in the facial tissues. [E. Melkersson (1898–1932), Swedish physician; C. Rosenthal (20th century), German neurologist]... melkersson–rosenthal syndrome

Metabolic Syndrome

(insulin resistance syndrome, syndrome X) a very common condition in which impaired glucose tolerance, impaired fasting glucose, or type 2 diabetes (see glucose tolerance test) is combined with central obesity (increased fat within the abdomen), raised blood pressure (*hypertension), and *hyperlipidaemia. It is associated with a risk of premature vascular disease (heart attack and stroke). The principal underlying cause is *insulin resistance, which is genetically determined.... metabolic syndrome

Middle East Respiratory Syndrome

(MERS) a viral respiratory infection that was first identified in 2012. Humans seem to be infected most easily by contact with dromedary camels (hence the informal name camel flu), although human-to-human infection also occurs. Symptoms include fever, cough, and shortness of breath. Although the syndrome is often mild, death occurs in about a third of diagnosed cases. Most reported cases have been in the Arabian Peninsula, although there was a major outbreak in South Korea in 2015. At present there is no vaccine or treatment.... middle east respiratory syndrome

Miller–deiker Syndrome

a chromosomal abnormality resulting in a characteristic facial appearance and the absence of the grooves on the surface of the brain (see lissencephaly). Affected individuals have severe learning disabilities.... miller–deiker syndrome

Multiple Organ Dysfunction Syndrome

(MODS, multi-organ failure, multiple organ failure, MOF) a common cause of death following severe injury, overwhelming infection, or immune deficiency states.... multiple organ dysfunction syndrome

Myelodysplastic Syndromes

(MDS) a group of diseases in which the production of any one or all types of blood cells by the bone marrow is disrupted. Although myelodysplastic syndromes were previously referred to as preleukaemia, only a minority of patients with myelodysplastic syndromes develop leukaemia.... myelodysplastic syndromes

Neglect Syndrome

see hemispatial neglect.... neglect syndrome

Nephritic Syndrome

generalized inflammation of the glomeruli of the kidneys resulting in a reduction in *glomerular filtration rate, with mild oedema and hypertension resulting from renal salt and water retention. Urine analysis shows the presence of proteinuria and microscopic haematuria with red cell casts. Common and usually self-limiting causes are *Berger’s nephropathy and poststreptococcal glomerulonephritis. Less common but more serious causes of the nephritic syndrome are the vasculitides (see vasculitis) and *Goodpasture’s disease, which, untreated, usually prove fatal.... nephritic syndrome

Nerve Entrapment Syndrome

any syndrome resulting from pressure on a nerve from surrounding structures. Examples include the *carpal tunnel syndrome and *meralgia paraesthetica.... nerve entrapment syndrome

Neuroleptic Malignant Syndrome

a life-threatening syndrome seen after starting *antipsychotic medication. It is characterized by confusion, muscle rigidity, fever, pallor and sweating, urinary incontinence, and a high level of *creatine kinase. Its symptoms can appear similar to *catatonia. Treatment in a high-dependency unit with high-dose benzodiazepines and immediate cessation of antipsychotic drugs is usually indicated.... neuroleptic malignant syndrome

Noonan’s Syndrome

an autosomal *dominant condition of males who have all or some of the physical features of *Turner’s syndrome in females but normal sex chromosomes. It is often associated with a low testosterone level and sometimes with reduced sperm production. Other features include cardiovascular defects and most affected individuals have short stature and mild learning disabilities. [J. Noonan (1928– ), US paediatrician]... noonan’s syndrome

Neonatal Abstinence Syndrome

(NAS) symptoms and signs exhibited by a newborn baby (neonate) due to drug withdrawal (see dependence). This results when the fetus has been exposed to addictive drugs through maternal substance abuse or misuse. Symptoms tend to occur in the first few days of life (in the case of methadone, which is a long-acting opioid, symptom onset may be delayed). They include tremors and jerking, high-pitched crying, sneezing, sucking of fists, feeding difficulties, shortened periods of sleep between feeds, rapid breathing, sweating, loose stools, nasal stuffiness, and frequent yawning. Treatment includes swaddling or snugly wrapping in a blanket, as babies with NAS are often difficult to comfort. Other nonpharmacological measures include frequent small feeds using high-calorie formula and intravenous fluids if babies become dehydrated. Drug therapy may be used for seizures and withdrawal symptoms.... neonatal abstinence syndrome

Nystagmus Block Syndrome

a type of squint (convergent *strabismus) that results from the use of the convergence mechanism to block or dampen down *nystagmus in an attempt to improve visual acuity.... nystagmus block syndrome

Obstructive Sleep Apnoea Syndrome

(OSAS) see obstructive sleep apnoea.... obstructive sleep apnoea syndrome

Ogilvie’s Syndrome

see pseudo-obstruction.... ogilvie’s syndrome

Ovarian Hyperstimulation Syndrome

a potentially life-threatening condition classically associated with ovarian stimulation using gonadotrophins in assisted conception procedures, such as in vitro fertilization (see superovulation). It is characterized by gross enlargement of the ovaries resulting in pain, bloating, nausea, vomiting, *haemoconcentration, and *ascites. The most severe cases require intensive care due to the high risk of thromboembolism and acute respiratory distress.... ovarian hyperstimulation syndrome

Overactive Bladder Syndrome

see detrusor.... overactive bladder syndrome

Painful Bruising Syndrome

see Gardner–Diamond syndrome.... painful bruising syndrome

Pancoast Syndrome

pain and paralysis involving the lower branches of the brachial plexus due to infiltration by a malignant tumour of the apical region of the lung. *Horner’s syndrome may also be present. [H. K. Pancoast (1875–1939), US radiologist]... pancoast syndrome

Paraneoplastic Syndrome

signs or symptoms occurring in a patient with cancer that result from antibodies or *ectopic hormones produced by the cancer and are not due directly to local effects of the cancer cells. Examples are *myasthenia gravis secondary to a tumour of the thymus, a cerebellar syndrome in patients with lung cancer (due to anti-*Purkinje cell antibody), and a peripheral neuropathy in patients with breast cancer. Removal of the cancer usually leads to resolution of the problem.... paraneoplastic syndrome

Patau Syndrome

a chromosome disorder in which there are three no. 13 chromosomes (instead of the usual two), causing abnormal brain development, severe learning disabilities, and defects in the heart, kidney, and scalp. Affected individuals rarely survive. [K. Patau (20th century), US geneticist]... patau syndrome

Pendred’s Syndrome

goitre associated with congenital deafness due to deficiency of *peroxidase, an enzyme that is essential for the utilization of iodine. [V. Pendred (1869–1946), British physician]... pendred’s syndrome

Peutz–jeghers Syndrome

a hereditary disorder in which the presence of multiple *polyps in the lining of the small intestine (intestinal *polyposis) is associated with pigmented areas (similar to freckles) around the lips, on the inside of the mouth, and on the palms and soles. The polyps can also occur in the colon and stomach. They may bleed, resulting in anaemia, or may cause obstruction of the bowel. Half of the patients develop malignant tumours (not necessarily of the bowel). [J. L. A. Peutz (1886–1957), Dutch physician; H. J. Jeghers (1904–90), US physician]... peutz–jeghers syndrome

Pierre Robin Syndrome

a congenital disease in which affected infants have a very small lower jawbone (mandible) and a cleft palate. They are susceptible to feeding and respiratory problems. [Pierre Robin (1867–1950), French dentist]... pierre robin syndrome

Poems Syndrome

a syndrome, mostly reported in Japanese males, consisting of polyneuropathy (see peripheral neuropathy), organomegaly, endocrine failure, M protein (immunoglobulins) in the plasma, and skin changes, such as thickening, hirsutism, or excess sweating. Each of the components occurs with varying consistency. The cause is not known but it is not thought to be autoimmune in nature.... poems syndrome

Postgastrectomy Syndrome

see dumping syndrome.... postgastrectomy syndrome

Post-polio Syndrome

insidious numbness in muscles that develops 15–20 years after an attack of *poliomyelitis; the muscles may or may not have been previously affected. It may be caused by loss of nerve cells that have been under greater strain than normal as a result of the polio; there is no evidence of reactivation of the poliovirus. The syndrome also includes other symptoms, such as fatigue and pain, which may be due to secondary mechanical causes.... post-polio syndrome

Postviral Fatigue Syndrome

see CFS/ME/PVF.... postviral fatigue syndrome

Potter Syndrome

a congenital condition characterized by absence of kidneys, resulting in decreased amniotic fluid (see oligohydramnios) and compression of the fetus. Babies have poorly developed lungs, a characteristic wrinkled and flattened facial appearance, and leg deformities and do not usually survive. [E. L. Potter (20th century), US pathologist]... potter syndrome

Prader–willi Syndrome

(Prader–Willi–Labhart syndrome) a congenital condition that is inherited as an autosomal *dominant trait and is due to an abnormality of chromosome 15 (see imprinting). It is marked by pathological overeating and resulting obesity (affected children often subsequently develop type 2 diabetes), lethargy, short stature, a characteristic facial expression, learning disabilities, and underactivity of the testes or ovaries (*hypogonadism) due to lack of pituitary gonadotrophins. It is a cause of delayed puberty. [A. Prader, H. Willi, and A. Labhart (20th century), Swiss paediatricians]... prader–willi syndrome

Prune Belly Syndrome

(Eagle–Barrett syndrome) a hereditary condition, occurring exclusively in males, characterized by a deficiency of abdominal muscles, complex malformation of the urinary tract, and bilateral undescended testes. The lungs may be underdeveloped. The name derives from the typically wrinkled appearance of the skin over the abdomen.... prune belly syndrome

Pseudoexfoliation Syndrome

the appearance of white dandruff-like deposits on structures in the anterior chamber of the eye, which are especially prominent around the pupil margin and on the anterior lens capsule. It is a sign of zonular weakness and indicates an increased risk of secondary glaucoma.... pseudoexfoliation syndrome

Punch-drunk Syndrome

a group of symptoms consisting of progressive *dementia, tremor of the hands, epilepsy, and parkinsonism. It is a consequence of repeated blows to the head that have been severe enough to cause *concussion.... punch-drunk syndrome

Ramsay Hunt Syndrome

a form of *herpes zoster affecting the facial nerve, associated with facial paralysis and loss of taste. It also produces pain in the ear and other parts supplied by the nerve. [J. R. Hunt (1872–1937), US neurologist]... ramsay hunt syndrome

Refeeding Syndrome

a potentially fatal condition that may affect severely malnourished patients in response to the reintroduction of a protein- and calorie-rich diet. It is thought to be due to severe fluid and *electrolyte shifts (especially low phosphate, magnesium, and potassium levels in the blood) and related metabolic complications (e.g. raised levels of insulin in the blood). Clinical complications include heart failure, *paraesthesia, muscle weakness, cardiac *arrhythmias, fitting, and death. An assessment to identify at-risk patients before the reinstatement of feeding, regular monitoring, and prompt correction of electrolyte abnormalities helps to prevent this condition.... refeeding syndrome

Reifenstein’s Syndrome

(partial androgen insensitivity syndrome) a congenital resistance to androgen hormones (see androgen insensitivity syndrome) resulting in poor development of the male sexual characteristics, which often becomes more obvious at puberty. Some features of feminization may occur (e.g. breast development). [E. C. Reifenstein (1908–75), US endocrinologist]... reifenstein’s syndrome

Rokitansky–küster–hauser Syndrome

see Mayer–Rokitansky–Küster–Hauser syndrome.... rokitansky–küster–hauser syndrome

Russell–silver Syndrome

(Silver–Russell syndrome) a congenital condition characterized by short stature, a triangular face with a small mandible (lower jaw), and asymmetry of the body. [A. Russell (1918–2003), British paediatrician; H. K. Silver (1918–91), US paediatrician]... russell–silver syndrome

Scalenus Syndrome

(thoracic outlet syndrome) the group of symptoms caused by compression of the subclavian artery and the lower roots of the brachial plexus against the fibrous and bony structures of the outlet of the upper thoracic vertebrae. Loss of sensation, wasting, and vascular symptoms may be found in the affected arm, which may also be painful.... scalenus syndrome

Schmidt’s Syndrome

the autoimmune destruction of a combination of the thyroid, the adrenals, and the beta cells of the islets of Langerhans, causing type 1 *diabetes mellitus. It is often associated with failure of the ovaries (causing an early menopause), the parathyroids, and the parietal cells of the *gastric glands (causing pernicious anaemia). [M. B. Schmidt (1863–1949), German physician]... schmidt’s syndrome

Schnitzler’s Syndrome

a rare disorder characterized by chronic *urticaria, fever, bone or joint pain, and enlarged lymph nodes in the neck. There are increased levels of an antibody, IgM (see immunoglobulin), produced by plasma cells. Treatment with *anakinra is very effective. [L. Schnitzler (20th century), French dermatologist]... schnitzler’s syndrome

Seat-belt Syndrome

thoracic injuries that arise from violent contact with a restraining seat belt in motor vehicle accidents occurring at high speeds.... seat-belt syndrome

Seip–beradinelli Syndrome

see lipodystrophy. [M. Seip (20th century), Scandinavian physician; W. Beradinelli (1903–56), Argentinian physician]... seip–beradinelli syndrome

Sheehan’s Syndrome

a condition in which *amenorrhoea and infertility follow a major haemorrhage in pregnancy. It is caused by necrosis (death) of the anterior lobe of the pituitary gland as a direct result of the haemorrhage reducing the blood supply to the gland. Compare Asherman syndrome. [H. L. Sheehan (20th century), British pathologist]... sheehan’s syndrome

Short Bowel Syndrome

intestinal failure that occurs when the small bowel is shortened by surgery or trauma, resulting in reduced absorption of nutrients. Some bowel adaptation does occur, but if under 200 cm of small bowel remain it is likely patients will need long-term *total parenteral nutrition.... short bowel syndrome

Silver–russell Syndrome

see Russell–Silver syndrome.... silver–russell syndrome

Sipple’s Syndrome

see MENS. [J. H. Sipple (1930– ), US physician]... sipple’s syndrome

Sleep Apnoea Syndrome

(SAS) see obstructive sleep apnoea.... sleep apnoea syndrome

Solitary Rectal Ulcer Syndrome

an uncommon anorectal condition that produces symptoms of anal pain, rectal bleeding, straining during defecation, and obstructed defecation (dyssynergic defecation). *Proctoscopy reveals one or more benign rectal lesions, which are thought to be due to abnormal straining during defecation leading to prolapse of the distal anterior rectal wall and internal anal *intussusception.... solitary rectal ulcer syndrome

Sotos Syndrome

(cerebral gigantism) a rare inherited disorder resulting in excessive physical growth during the first 2–3 years of life. It presents in childhood with a characteristic facial appearance, a disproportionately large head, large hands and feet, abnormally widely spaced eyes (ocular *hypertelorism), developmental delay, and tall stature for age. Children with Sotos syndrome tend to be large at birth and taller and heavier, stabilizing after about five years to achieve normal adult height. Most cases occur sporadically, although familial cases have been reported. [J. F. Sotos (1927– ), U.S. paediatrician]... sotos syndrome

Stagnant Loop Syndrome

see blind loop syndrome.... stagnant loop syndrome

Staphylococcal Scalded Skin Syndrome

(Ritter’s disease) a potentially serious condition of young infants (and occasionally seen in adults) in which the skin becomes reddened and tender and then peels off, giving the appearance of a scald. The area of skin loss may be quite extensive and is usually centred on the armpits and groin. The underlying cause is an infection by certain bacteria of the genus *Staphylococcus. It is contagious and may occur in clusters. Treatment is by antibiotics (usually intravenous), but careful nursing is essential to prevent skin damage. Admission to hospital is mandatory for small children.... staphylococcal scalded skin syndrome

Steele–richardson–olszewski Syndrome

see progressive supranuclear palsy. [J. C. Steele and J. C. Richardson (20th century), Canadian neurologists; J. Olszewski (1913–64), Polish-born Canadian neuropathologist]... steele–richardson–olszewski syndrome

Streptococcal Toxic Shock Syndrome

a bacterial disease characterized by fever, shock, and multiple organ failure. It is similar to the *toxic shock syndrome caused by staphylococci, but in these cases the infecting organisms are *Streptococcus Type A bacteria. See also necrotizing fasciitis.... streptococcal toxic shock syndrome

Sturge–weber Syndrome

see angioma. [W. A. Sturge (1850–1919) and F. P. Weber (1863–1962), British physicians]... sturge–weber syndrome

Superior Canal Dehiscence Syndrome

(SCDS) a rare condition characterized by sound- or pressure-induced vertigo (see Tullio phenomenon), hearing loss, *autophony, and a sense of fullness in the affected ear. It is associated with absence of the bone that normally lies over the superior *semicircular canal. Diagnosis involves computerized tomography and *vestibular evoked myogenic potential testing. Treatment involves surgery to repair the bony defect.... superior canal dehiscence syndrome

Syndrome X

see metabolic syndrome.... syndrome x

Takotsubo Syndrome

sudden extensive damage to the left *ventricle that classically occurs following acute emotional shock. The clinical syndrome mimics acute *myocardial infarction, but no coronary artery is occluded and the extent of ventricular damage exceeds that supplied by any single coronary artery. The appearance of the left ventriculogram resembles a Japanese lobster pot, from which the name derives. The cause is unknown, and in most cases spontaneous recovery occurs.... takotsubo syndrome

Thalamic Syndrome

a condition resulting from damage to the thalamus, often by a stroke, that is characterized by severe intractable pain and hypersensitivity in the area of the body served by the damaged brain region. It is extremely resistant to treatment.... thalamic syndrome

Syndrome Of Inappropriate Secretion Of Antidiuretic Hormone

(SIADH) a condition of inappropriately high plasma levels of ADH (see vasopressin) with associated water retention, dilutional *hyponatraemia, and the production of highly concentrated urine. Renal, adrenal, thyroid, and hepatic function are normal, as is the volume of circulating blood (euvolaemia). It is caused by a variety of pathological conditions, usually intrathoracic and intracerebral, and also by a number of drugs, including antidepressants, chemotherapy agents, and some of the older antidiabetic agents. The treatment involves fluid restriction, treatment (or removal) of the underlying cause (or drug), and, in severe cases, administration of *demeclocycline to reduce the effects of ADH on the kidney. Very rarely, hypertonic saline is given.... syndrome of inappropriate secretion of antidiuretic hormone

Tonic Tensor Tympani Syndrome

involuntary persistent contraction of the tensor tympani muscle in the middle ear, attached to the malleus bone, giving rise to tinnitus, distorted hearing, a sensation of blockage of the ear, or pain.... tonic tensor tympani syndrome

Treacher Collins Syndrome

(Treacher Collins deformity) a hereditary disorder of facial development. It is characterized by underdevelopment of the jaw and zygomatic (cheek) bones and the precursors of the ear fail to develop, which results in a variety of ear and facial malformations. The ear abnormality may cause deafness. [E. Treacher Collins (1862–1919), British ophthalmologist]... treacher collins syndrome

Twin-to-twin Transfusion Syndrome

(TTTS) a condition in which communicating vessels in the shared placenta of monochorionic twins (see chorionicity) divert blood to one fetus (the recipient) from the other (the donor), resulting in one fetus with increased blood volume and one anaemic fetus. It complicates 15% of monochorionic twin pregnancies, and a system of ultrasound staging has been developed to assess the severity of the syndrome. TTTS is associated with a high perinatal mortality rate. There is significant morbidity and poor neurodevelopmental outcome in surviving infants due to complications of the disease itself and the high preterm birth rate that invariably accompanies this condition. A range of treatments, including *amnioreduction, *septostomy, and laser ablation of the communicating vessels, have led to an improvement in overall perinatal survival rates.... twin-to-twin transfusion syndrome

Ugh Syndrome

*uveitis associated with *glaucoma and *hyphaema. This is an uncommon inflammatory condition occurring as a complication of intraocular lens *implants.... ugh syndrome

Verner–morrison Syndrome

see VIPoma. [J. V. Verner (1927– ), US physician; A. B. Morrison (1922– ), Irish pathologist]... verner–morrison syndrome

 waardenburg’s Syndrome

an inherited form of deafness accompanied by a characteristic white forelock of hair and multiple colours within the irises of the eyes. It is inherited as an autosomal *dominant disease, i.e. the children of an affected parent have a 50% chance of inheriting the disorder, although severity is variable. The gene responsible has been identified. [P. J. Waardenburg (1886–1979), Dutch ophthalmologist]...  waardenburg’s syndrome

Wagr Syndrome

Wilms’ tumour (see nephroblastoma), aniridia, genitourinary abnormalities, and mental retardation: a condition due to a deletion of part of the short arm of chromosome 11.... wagr syndrome

Waterhouse–friderichsen Syndrome

acute haemorrhage in the adrenal glands with haemorrhage into the skin associated with the sudden onset of acute bacteraemic *shock. It is usually caused by meningococcal septicaemia (see meningitis). [R. Waterhouse (1873–1958), British physician; C. Friderichsen (20th century), Danish physician]... waterhouse–friderichsen syndrome

Wermer’s Syndrome

see MENS. [P. Wermer, US physician]... wermer’s syndrome

Werner’s Syndrome

a rare genetic disorder resulting in premature ageing that starts at adolescence. Growth may be retarded and affected individuals may suffer from a thin skin, arterial disease, leg ulcers, and diabetes. Treatment is limited to the management of complications, such as diabetes. The gene responsible codes for an enzyme involved in the mechanisms of DNA replication and repair, which in affected individuals is defective. [C. W. O. Werner (1879–1936), German physician]... werner’s syndrome

Williams Syndrome

a hereditary condition, caused by a defect (a *deletion) in chromosome 7, marked by a characteristic ‘elfin’ facial appearance (including large eyes, a wide mouth, and small chin), *hypercalcaemia, short stature, learning disabilities, and *aortic stenosis. Most affected children are highly sociable and have unusual conversational ability, using a rich and complex vocabulary. The condition can be diagnosed prenatally. [J. C. P. Williams (20th century), British physician]... williams syndrome

Wiskott–aldrich Syndrome

a rare *sex-linked recessive disorder characterized by eczema, *thrombocytopenia, and deficiency in the immune response (*immunodeficiency). It is caused by a decrease in the amount of Wiskott–Aldrich syndrome protein (WASP: a protein occurring in lymphocytes, platelets, and other cells) due to a mutation in the WASP gene.... wiskott–aldrich syndrome

Wolfram Syndrome

(DIDMOAD syndrome) a rare syndrome consisting of a combination of *diabetes insipidus, *diabetes mellitus, *optic atrophy, and *deafness.... wolfram syndrome

Wolff–parkinson–white Syndrome

a congenital abnormality of heart conduction caused by the presence of an *accessory pathway of conduction between the atria and ventricles. It results in premature excitation of one ventricle and is characterized by an abnormal wave (delta wave) at the start of the QRS complex on the electrocardiogram. The accessory pathway predisposes the patient to episodes of fast heart rate due to the rapid self-sustaining circulation of an electrical impulse from the atria to the ventricles and back again (*atrioventricular reciprocating tachycardia). Emergency treatment is in the form of drugs that temporarily block the re-entry circuit. Permanent destruction of the accessory pathway by *radiofrequency ablation is usually curative. [L. Wolff; Sir J. Parkinson (1885–1976), British physician; P. D. White (1886–1973), US cardiologist]... wolff–parkinson–white syndrome

X-linked Lymphoproliferative Syndrome

(XLP syndrome, Duncan’s disease) a hereditary disorder of the immune system caused by a defective *sex-linked gene carried on an *X chromosome. There is uncontrolled proliferation of B-*lymphocytes in response to infection by the Epstein-Barr virus, which can lead to fulminating hepatitis or lymphoma. This condition is due to a defect in a gene, SAP, which encodes a signalling molecule found in the cytoplasm of cells.... x-linked lymphoproliferative syndrome

Xlp Syndrome

see X-linked lymphoproliferative syndrome.... xlp syndrome

Zieve’s Syndrome

a combination of severe *hyperlipidaemia, haemolytic *anaemia, and *jaundice seen in susceptible individuals drinking alcohol to excess. [L. Zieve (1915–2000), US physician]... zieve’s syndrome



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