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| Wolman disease Classification and external resources |
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| 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]
Contents |
Inheritance and Diagnosis
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.
Symptoms
Infants may be normal and active at birth but quickly develop progressive mental deterioration, hepatosplenomegaly (enlarged liver and grossly enlarged spleen), 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 finding is coarse, calcified and enlarged adrenal glands, which maintain their 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 is may be mesenteric and retroperitoneal enlarged low density lymph nodes as well.
Prognosis
In the past, there has been no specific treatment for Wolman disease, although 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 must be removed to improve cardiopulmonary function. Dietary restrictions do not prevent lipid buildup in cells and tissues. There is no treatment for the disease, and almost all infants die before the age of one.
Eponym
Wolman disease is named after Moshe Wolman.[4]
References
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 278000
- ^ Aslanidis, C; Ries, S; Fehringer, P; Büchler, C; Klima, H; Schmitz, G (Apr 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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- This page was last modified on 9 August 2008, at 08:30.
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