Wolman disease

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Wolman disease
Wolman's disease 002.jpg
Wolman's_disease
(Image courtesy of RadsWiki)
ICD-10 E75.5
ICD-9 272.7
OMIM 278000
DiseasesDB 31220
MeSH D015223

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Cafer Zorkun, M.D., Ph.D. [2]

Synonyms and Keywords: Lysosomal acid lipase deficiency

Overview

Wolman disease (also known as Wolman’s disease, Wolman’s syndrome, and acid lipase deficiency) is a rare severe lipid storage disease that is usually fatal at a very young age.[1]

Both males and females are affected by this severe disorder.

Causes

This autosomal recessive disorder 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.

Presentation

Infants are 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.

Diagnosis

Physical Examination

  • Hepatomegaly
  • Splenomegaly

Abdominal x-ray

  • The vast majority of radiologic findings reported in the literature are limited to the characteristically enlarged, calcified adrenal glands noted on conventional radiographs.
  • Although there are multiple causes of adrenal gland calcifications, only Wolman disease results in enlarged, calcified adrenal glands that maintain their normal triangular configuration.

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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.[3]

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.[2]

References


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