Wolman disease

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ICD9 = | ICDO = | OMIM = 278000 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = D015223 | Wolman disease (also known as 'Wolmans disease, Wolman's syndrome, and acid lipase deficiency''') is a rare lipid storage disease that is usually fatal at a very young age.

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), distended abdomen, gastrointestinal problems including steatorrhea (excessive amounts of fats in the stools), jaundice, anemia, vomiting and calcium deposits in the adrenal glands, causing them to harden.

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.[http://www.nature.com/bmt/journal/v26/n5/full/1702557a.html] Patients with anemia may require blood transfusions. In some patients, the enlarged spleen must be removed to improve cardiopulmonary function. Restricting one’s diet does not prevent lipid buildup in cells and tissues.

Eponym

Wolman disease is named after Moshe Wolman.

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