Whipple's triad
| refsum disease | A chronic progressive peripheral neuropathy which is probably inherited in an autosomal recessive manner. Some of the manifestations of this disorder are atypical retinitis pigmentosa, cerebellar ataxia, and increased cerebrospinal protein levels. Excessive phytanic acid storage has been found in most cases. Onset of symptoms usually occurs in early childhood. Infantile refsum disease (see peroxisomal disorders) differs in that it also includes mental retardation, dysmorphic features, peroxisomal deficiency, and very early onset. (12 Dec 1998) |
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| refsum's disease | A genetic disorder of the fatty acid phytanic acid which accumulates and causes a number of progressive problems including polyneuritis (inflammation of numerous nerves), diminishing vision (due to retinitis pigmentosa), and wobbliness (ataxia) caused by damage to the cerebellar portion of the brain (cerebellar ataxia). (12 Dec 1998) |
| Vincent's disease | <disease> An acute or recurrent form of gingivitis of young to middle-aged adults characterised by red and painful gums, fetid breath and gum destruction. Other features may include fever and enlargement of the regional lymph nodes. Pathogenesis of this condition is thought to be secondary to a fusiform bacillus and spirochetal (Treponema vincentii) microorganisms. (14 Oct 1997) |
| McArdle disease | <disease> Glycogen storage disease in which the defective enzyme is muscle phosphorylase. (18 Nov 1997) |
| McArdle-Schmid-Pearson disease | Glycogenosis due to muscle glycogen phosphorylase deficiency, resulting in accumulation of glycogen of normal chemical structure in muscle. Synonym: McArdle's disease, McArdle's syndrome, McArdle-Schmid-Pearson disease, myophosphorylase deficiency glycogenosis. (05 Mar 2000) |
| McArdle's disease | Glycogenosis due to muscle glycogen phosphorylase deficiency, resulting in accumulation of glycogen of normal chemical structure in muscle. Synonym: McArdle's disease, McArdle's syndrome, McArdle-Schmid-Pearson disease, myophosphorylase deficiency glycogenosis. (05 Mar 2000) |
| Glanzmann's disease | <haematology> A form of congenital platelet functional defect that result in prolongation of the bleeding time. Characteristics include mucosal and post-operative bleeding that may be severe. (17 Dec 1997) |
| Glasser's disease | <disease> A fibrinous polyserositis, polyarthritis, and meningitis of pigs caused by the bacterium Haemophilus parasuis. (05 Mar 2000) |
| Virchow's disease | A condition, either congenital or acquired, in which the head is abnormally large; usually applied to an adult skull with a capacity of over 1450 ml. Synonym: leontiasis ossea, macrocephaly, macrocephalia, megacephalia, megalocephaly, megalocephalia, Virchow's disease. Origin: mega-+ G. Kephale, head (05 Mar 2000) |
| mechanobullous disease | This represents a group of rare inherited disorders in which blistering of the skin occurs in response to skin trauma. Large fluid-filled blisters can occur in response to injury, skin rubbing, chafing or even increases in room temperature. Secondary bacterial infection of the blisters is common. Complications include oesophageal stricture, infections, loss of function of hands and feet and malnutrition. The dermatologist is the expert in the evaluation and treatment of this disorder. (27 Sep 1997) |
| reiter's disease | A triad of nongonococcal urethritis followed by conjunctivitis and arthritis, of unknown aetiology. (12 Dec 1998) |
| virus X disease | A term applied to a number of virus disease's of obscure aetiology, e.g., Australian X disease (Murray Valley encephalitis). (05 Mar 2000) |
| visceral disease virus | <virology> Probably the most widespread of the Herpetoviridae group. Infected cells enlarge and have a characteristic inclusion body (composed of virus particles) in the nucleus. Causes disease only in utero (leading to abortion or stillbirth or to various congenital defects), although can be opportunistic in the immunocompromised host. Patients who have been exposed to the virus will remain cytomegalovirus IgG positive. Acronym: CMV (30 Sep 1997) |
| Pauzat's disease | Osteoplastic periostitis or fatigue fractures of the metatarsal bones, caused by excessive marching. (05 Mar 2000) |
| Pavy's disease | Cyclic or recurrent physiologic albuminuria. (05 Mar 2000) |