Wolman disease


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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.

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.

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.

Wolman,

Moske, Israeli neuropathologist, 1914–.
Wolman disease - lipidosis caused by deficiency of liposomal acid lipase activity. Synonym(s): cholesterol ester storage disease
Wolman xanthomatosis
References in periodicals archive ?
Acid lipase deficiency: Wolman disease and cholesterol ester storage disease.
Chronic diarrhea has been reported in some pediatric cases, while calcification of the adrenal glands, which is the hallmark of Wolman disease, can also be seen.
Lysosomal acid lipase (LAL) [3] deficiency is an autosomal recessive lysosomal storage disease with 2 distinct phenotypes: a severe infantile form known as Wolman disease and a milder, later-onset form referred to as cholesterol ester storage disease (1).
LAL deficiency leads to a poorly defined continuum of symptoms, historically divided into Wolman disease (early onset), first described in 1956 [2], and cholesteryl ester storage disease (late onset) [1, 3], first described in 1963 [4].
Wolman disease was first described by Moshe Wolman, a neuropathologist, in 1956.
Congenital adrenal hyperplasia, congenital adrenal hypoplasia, adrenoleukodystrophy, Zellweger syndrome, Wolman disease, autoimmune polyglandular syndrome type 1, and bilateral adrenal hemorrhages are included in this group of diseases (10).
The two major phenotypes of this condition are a rapidly progressive form in infancy (formerly known as Wolman disease) and a later-onset progressive form in children and adults (formerly known as cholesteryl ester storage disease, CESD).
Separately, the regulatory agency cleared the first drug to treat Wolman disease, a rare enzyme disorder in pediatric and adult patients.
Patients with LAL deficiency (also known as Wolman disease and cholesteryl ester storage disease CESD ) have no or little LAL enzyme activity.
Conditions associated with hepatosplenomegaly like Gaucher disease, hexosaminidase A deficiency, Sandhoff disease, Niemann-Pick disease type C, Wolman disease, the mucopolysaccharidoses.
Other diseases of connection to Sephardi origin include: Alpha-Thalassemia, Ataxia Telangiectasia, Corticosterone Methyloxidase Type II Deficiency, Costeff Optical Atrophy, Cystic Fibrosis (CF), Familial Creutzfeldt-Jakob Disease, Familial Tumoral Calcinosis (Normophosphatemic Type), Inclusion Body Myophy Type 28, Metachromic Leukodystrophy, Polyglandular Deficiency Syndrome, Pseudocholinesterase Deficiency, Spinal Muscular Athrophy (S.MA) and Wolman Disease.
Since these results made the condition unlikely to be as a result of Gaucher, Niemann-Pick disease Type A-B and Wolman diseases, further studies were performed including Next Generation Sequencing of NPC1 gene, which was carried out on DNA isolated from leukocytes, for NP-C.