Wolman disease

(redirected from Wolman's syndrome)

cho·les·ter·ol es·ter stor·age dis·ease

[MIM*278000]
a lipidosis caused by a deficiency of lysosomal acid lipase activity resulting in widespread accumulation of cholesterol esters and triglycerides in viscera with xanthomatosis, adrenal calcification, hepatosplenomegaly, foam cells in bone marrow and other tissues, and vacuolated lymphocytes in peripheral blood; autosomal recessive inheritance, caused by mutation in the lysosomal acid lipase gene (LIPA) on chromosome 10q.
Farlex Partner Medical Dictionary © Farlex 2012

Wolman disease

(wôl′mən)
n.
A lysosomal storage disease caused by deficiency of an enzyme that breaks down lipids, characterized by the accumulation of cholesterol esters and triglycerides in the tissues and resulting in enlargement of the liver and spleen, abdominal distension, steatorrhea, cachexia, and usually death in infancy.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.

cho·les·ter·ol es·ter stor·age dis·ease

(kŏ-les'tĕr-ol es'tĕr stōr'ăj di-zēz')
A lipidosis caused by a deficiency of lysosomal acid lipase activity resulting in widespread accumulation of cholesterol esters and triglycerides in viscera with xanthomatosis, adrenal calcification, hepatosplenomegaly, foam cells in bone marrow and other tissues, and vacuolated lymphocytes in peripheral blood; autosomal recessive inheritance, caused by mutation in the lysosomal and lipase gene (LIPA) on chromosome 10q.
Synonym(s): Wolman disease, Wolman xanthomatosis.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

Wolman,

Moske, Israeli neuropathologist, 1914–.
Wolman disease - lipidosis caused by deficiency of liposomal acid lipase activity. Synonym(s): cholesterol ester storage disease
Wolman xanthomatosis
Medical Eponyms © Farlex 2012