Wolman disease
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| Wolman disease | |
| Classification and external resources | |
| ICD-10 | E75.5 |
|---|---|
| ICD-9 | 272.7 |
| OMIM | 278000 |
| DiseasesDB | 31220 |
| MeSH | D015223 |
Wolman disease (also known as Wolman's disease, Wolman's syndrome, and acid lipase deficiency)[1] is a rare autosomal recessive[2] lipid storage disease that is usually fatal at a very young age.[3] It is in the family of lysosomal storage diseases. The defective gene responsible for the disorder is located on chromosome 10.
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[edit] Inheritance and Diagnosis
Wolman disease is very rare, with only 50 reports of the disease published in the worldwide medical literature. It affects both males and females and is inherited in an autosomal recessive manner, meaning that a child must inherit two copies of the defective gene, one from each parent, in order to develop the disorder. Wolman disease is marked by accumulation of cholesteryl esters (normally a transport form of cholesterol) and triglycerides (a chemical form in which fats exist in the body) that can build up significantly and cause damage in the cells and tissues.
[edit] Symptoms
Infants may be normal and active at birth but quickly develop progressive mental deterioration, hepatosplenomegaly (an enlarged liver (hepatomegaly) combined with an enlarged spleen (splenomegaly), intrabdominal adenopathy, distended abdomen, gastrointestinal problems including steatorrhea (excessive amounts of fats in the stools), jaundice, anemia, vomiting and calcium deposits in the adrenal glands. The overall clinical picture is an infant who appears ill and fails to thrive.
The key imaging findings are enlarged adrenal glands, with punctate calcifications, and a preserved shape. The calcification may be limited to the cortex of the gland. This may be a pathognomonic sign. The liver and spleen are enlarged, especially the liver. The liver demonstrates low density on CT, due to fatty infiltration. There may be enlarged, low-density mesenteric and retroperitoneal lymph nodes.
[edit] Prognosis
There is at present no cure for Wolman disease, and almost all infants die before the age of one. Treatment focuses on management of the symptoms. If the adrenal glands are not functioning well, medications can be given to replace the hormones the glands usually make. Nutrition can be given intravenously rather than through the digestive system. In the past, a single case patient has seen a complete, sustained remission after a bone marrow transplant, and if the results can be duplicated, this approach may become standard in the future. [1] Patients with anemia may require blood transfusions. In some patients, the enlarged spleen (splenomegaly) must be removed to improve cardiopulmonary function. Dietary restrictions do not prevent lipid buildup in cells and tissues.
[edit] Eponym
Wolman disease is named after Moshe Wolman.[4]
[edit] External links
[edit] References
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 278000
- ^ Aslanidis, C; Ries, S; Fehringer, P; Büchler, C; Klima, H; Schmitz, G (April 1996). "Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity". Genomics 33 (1): 85–93. doi:. PMID 8617513.
- ^ 00425 at CHORUS
- ^ synd/3122 at Who Named It?
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