Weber-Cocayne syndrome
Weinrich et Emmerson
Whipple's triad
| central core disease of muscle | <neurology> One of the conditions that produces floppy baby syndrome. It causes hypotonia (floppiness) in the newborn baby, slowly progressive muscle weakness, and muscle cramps after exercise. Muscle biopsy shows a key diagnostic finding (absent mitochondria in the centre of many type I muscle fibres). The disease is inherited as a dominant trait. The CCD gene is on chromosome 19 (and involves ryanodine receptor-1). Inheritance: autosomal dominant. (12 Dec 1998) |
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| Vogt-Spielmeyer disease | Cerebral sphingolipidosis, late juvenile type. Synonym: Vogt-Spielmeyer disease. (05 Mar 2000) |
| medullary cystic disease | <disease> A rare hereditary kidney disease characterised by the gradual loss of kidney function due to the presence of cysts in the renal medulla. Symptoms include high urine output (cannot concentrate the urine), weakness, weight loss, nocturia, fatigue and headache. There is no cure and usually progresses from chronic renal failure to end stage renal disease. (27 Sep 1997) |
| medullary cystic kidney disease | <radiology> Mode of inheritance uncertain, usually affects young adults (early 20s), associated with red or blond hair (!!), causes salt wasting, polyuria, azotaemia, affects both kidneys, with progressive disease patients need dialysis or transplant (12 Dec 1998) |
| central Recklinghausen's disease type II | type 1 neurofibromatosis |
| Centres for Disease Control | The federal facility for disease eradication, epidemiology, and education headquartered in Atlanta, Georgia, which encompasses the Centre for Infectious Diseases, Centre for Environmental Health, Centre for Health Promotion and Education, Centre for Prevention Services, Centre for Professional Development and Training, and Centre for Occupational Safety and Health. Formerly named Centre for Disease Control (1970), Communicable Disease Centre (1946). (05 Mar 2000) |
| centres for disease control and prevention | See: CDC. (12 Dec 1998) |
| Voltolini's disease | Disease of the labyrinth, leading to deafmutism, in young children. (05 Mar 2000) |
| Pel-Ebstein disease | The remittent fever common in Hodgkin's disease. Synonym: Pel-Ebstein disease. (05 Mar 2000) |
| Pelizaeus-Merzbacher disease | A sudanophilic leukodystrophy with a tigroid appearance of the myelin resulting from patchy demyelination. Type 1-classic, nystagmus and tremor appearing in the first few months of life, followed by slow motor development sometimes with choreoathetosis, spasticity, optic atrophy and seizures, with death in early adulthood, X-linked recessive inheritance; type 2-contralateral form with death in months to years after birth, X-linked recessive inheritance; type 3-transitional, with death in the first decade; type 4-adult form associated with involuntary movements, ataxia and hyperreflexia, but without nystagmus; type 5-variant forms. Cockayne is sometimes included as a sixth form. Synonym: Merzbacher-Pelizaeus disease. (05 Mar 2000) |
| Pellegrini's disease | A calcific density in the medial collateral ligament and/or bony growth at the internal condyle of the femur. Synonym: Pellegrini-Stieda disease. (05 Mar 2000) |
| Pellegrini-Stieda disease | A calcific density in the medial collateral ligament and/or bony growth at the internal condyle of the femur. Synonym: Pellegrini-Stieda disease. (05 Mar 2000) |
| glycogen storage disease | <hepatology> A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalised storage of glycogen occurs, sometimes with prominent cardiac involvement. Synonym: glycogenosis (12 Sep 2002) |
| glycogen storage disease type I | <disease> An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycaemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood. Inheritance: autosomal recessive. (12 Dec 1998) |
| glycogen storage disease type II | <disease> Glycogenosis due to alpha-1,4-glucosidase (acid maltase) deficiency. It affects muscle, heart, and other organs. (12 Dec 1998) |