Lysosomal acid lipase deficiency

Lysosomal acid lipase deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis.

Hepatosplenomegaly

Simultaneous enlargement of the liver and spleen.


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(per page)
PMID (PMCID)
29302509
(5750382)
 OTHER
A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency.
Kim KY, Kim JW, Lee KJ, Park E, Kang GH, Choi YH, Kim WS, Ko JM, Moon JS, Ko JS.
Pediatr Gastroenterol Hepatol Nutr. 2017;20(4):263-267.
This is the first report of a Korean child with LAL deficiency, and our findings suggest that this condition should be considered in the differential diagnosis of children with hepatosplenomegaly and dyslipidemia.
27392817
 MALE Child
Successful long-term outcome of liver transplantation in late-onset lysosomal acid lipase deficiency.
Sreekantam S, Nicklaus-Wollenteit I, Orr J, Sharif K, Vijay S, McKiernan PJ, Santra S.
Pediatr Transplant. 2016;20(6):851-4.
The subject was noted to have asymptomatic hepatosplenomegaly during an intercurrent illness, and LAL deficiency was confirmed with compound heterozygosity in the LIPA.
24832708
 MALE Infant, Newborn
Infant case of lysosomal acid lipase deficiency: Wolman's disease.
Sadhukhan M, Saha A, Vara R, Bhaduri B.
BMJ Case Rep. 2014;2014:.
In early onset LAL deficiency, clinical manifestations start in the first few weeks of life with persistent vomiting, failure to thrive, hepatosplenomegaly, liver dysfunction and hepatic failure.
24832708
 MALE Infant, Newborn
Infant case of lysosomal acid lipase deficiency: Wolman's disease.
Sadhukhan M, Saha A, Vara R, Bhaduri B.
BMJ Case Rep. 2014;2014:.
This case reinforces that early onset LAL deficiency should be considered in a baby presenting with failure to thrive, gastrointestinal symptoms and hepatosplenomegaly.