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.
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]
(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
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
A pattern of symptoms and signs, appearing one by one or simultaneously, that together characterise a particular disease or disorder.... 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
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
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
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
(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 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
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
See ERYTHEMA – Erythema infectiosum.... slapped cheek 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
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
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
See MUSCLES, DISORDERS OF.... compression 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
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
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
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
Hypochromic ANAEMIA and di?culty in swallowing due to an oesophageal web.... plummer-vinson syndrome
See MYALGIC ENCEPHALOMYELITIS (ME).... post-viral fatigue 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
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
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
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
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
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
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
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
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
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
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
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
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
See ovary, polycystic.... stein-leventhal 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
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
See Gilles de la Tourette’s syndrome.... tourette’s syndrome
A severe manifestation of infection with the Human immunodeficiency virus (HIV).... acquired immune deficiency syndrome (aids)
See under MUSCLES, DISORDERS OF – Compression syndrome.... anterior tibial 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
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
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)
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)
See EFFORT SYNDROME.... da costa’s 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
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
See REPRESSED MEMORY THERAPY.... false-memory 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
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
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
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
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
See GARGOYLISM.... hurler’s syndrome
See HYPERACTIVITY.... hyperkinetic 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
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
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
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
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
See REPRESSED MEMORY THERAPY.... recovered memory 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
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
See SARS.... severe acute respiratory syndrome (sars)
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
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
See ERYTHEMA – Erythema multiforme.... stevens-johnson 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
See GILLES DE LA TOURETTE’S SYNDROME.... tourette’s 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
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
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)
An alternative term for bulimia.... binge–purge syndrome
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)
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
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
See mitral valve prolapse.... floppy valve 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
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
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
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
See temporomandibular joint syndrome.... myofascial pain syndrome
See brain syndrome, organic.... organic brain 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
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
Another name for Dressler’s syndrome.... postmyocardial infarction 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
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
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
See painful arc syndrome.... supraspinatus syndrome
See temporomandibular joint syndrome.... tmj syndrome
Another name for Down’s syndrome.... trisomy 21 syndrome
A set of symptoms, usually affecting women, that are very similar to cystitis but which occur in the absence of infection.... urethral syndrome, acute
see AIDS.... acquired immune deficiency 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
see adult respiratory distress syndrome.... acute respiratory distress syndrome
see Stokes–Adams syndrome.... adams–stokes 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
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
(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
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
(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
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
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
(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
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
(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
see anosognosia. [G. Anton (1858–1933), Austrian neurologist]... anton’s 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
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
(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
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
(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
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
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
see nonaccidental injury.... battered baby syndrome
see bulimia.... binge–purge 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
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
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
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
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
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
(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
(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
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
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
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
(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
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
(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
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
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
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
(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
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
see erotomania. [G. G. de Clérambault (1872–1934), French physician]... de clérambault 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
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
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
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
see Wolfram syndrome.... didmoad 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
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
see mal de debarquement.... disembarkment 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
a disorder of memory in which new information is not learned but old material is well remembered. See Korsakoff’s syndrome.... dysmnesic syndrome
see prune belly syndrome.... eagle–barrett 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
1. see restless legs syndrome. 2. see delusional infestation. [K. A. Ekbom (1907–77), Swedish neurologist]... ekbom’s 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
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
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
(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
(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
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
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
see amyotonia congenita.... floppy baby 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
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
(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
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
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
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
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
(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
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
see palmoplantar erythrodysaesthesia.... hand–foot syndrome
see Angelman syndrome.... happy puppet 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
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
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
see Adie’s syndrome.... holmes-adie syndrome
see antiphospholipid antibody syndrome. [G. Hughes (21st century), British physician]... hughes 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
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
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
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
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
see obscure auditory dysfunction.... king–kopetzky 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
see lipodystrophy.... kobberling–dunnigan 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
(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
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
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
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
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
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
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
see Dent’s disease.... lowe’s syndrome
see toxic epidermal necrolysis. [A. Lyell (20th century), British dermatologist]... lyell’s syndrome
see hereditary nonpolyposis colorectal cancer.... lynch 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
(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
see neurocardiogenic syncope.... malignant vasovagal 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
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
(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
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
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
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
(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
(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
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
(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
(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
see hemispatial neglect.... neglect 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
any syndrome resulting from pressure on a nerve from surrounding structures. Examples include the *carpal tunnel syndrome and *meralgia paraesthetica.... nerve entrapment 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
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
(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
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
(OSAS) see obstructive sleep apnoea.... obstructive sleep apnoea syndrome
see pseudo-obstruction.... ogilvie’s 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
see detrusor.... overactive bladder syndrome
see Gardner–Diamond syndrome.... painful bruising 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
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
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
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
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
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
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
see dumping syndrome.... postgastrectomy 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
see CFS/ME/PVF.... postviral fatigue 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–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
(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
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
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
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
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
(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
see Mayer–Rokitansky–Küster–Hauser syndrome.... rokitansky–küster–hauser 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
(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
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
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
thoracic injuries that arise from violent contact with a restraining seat belt in motor vehicle accidents occurring at high speeds.... seat-belt syndrome
see lipodystrophy. [M. Seip (20th century), Scandinavian physician; W. Beradinelli (1903–56), Argentinian physician]... seip–beradinelli 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
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
see Russell–Silver syndrome.... silver–russell syndrome
see MENS. [J. H. Sipple (1930– ), US physician]... sipple’s syndrome
(SAS) see obstructive sleep apnoea.... sleep apnoea 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
(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
see blind loop syndrome.... stagnant loop 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
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
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
see angioma. [W. A. Sturge (1850–1919) and F. P. Weber (1863–1962), British physicians]... sturge–weber 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
see metabolic syndrome.... syndrome x
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
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
(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
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 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
(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
*uveitis associated with *glaucoma and *hyphaema. This is an uncommon inflammatory condition occurring as a complication of intraocular lens *implants.... ugh syndrome
see VIPoma. [J. V. Verner (1927– ), US physician; A. B. Morrison (1922– ), Irish pathologist]... verner–morrison 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
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
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
see MENS. [P. Wermer, US physician]... wermer’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
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
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
(DIDMOAD syndrome) a rare syndrome consisting of a combination of *diabetes insipidus, *diabetes mellitus, *optic atrophy, and *deafness.... wolfram 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
(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
see X-linked lymphoproliferative syndrome.... xlp 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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