Sadhukhan_2014_BMJ.Case.Rep_2014_

Reference

Title : Infant case of lysosomal acid lipase deficiency: Wolman's disease - Sadhukhan_2014_BMJ.Case.Rep_2014_
Author(s) : Sadhukhan M , Saha A , Vara R , Bhaduri B
Ref : BMJ Case Rep , 2014 : , 2014
Abstract :

Lysosomal acid lipase (LAL) deficiency is a rare autosomal recessive disorder which causes two distinct clinical phenotypes: Wolman's disease and cholesterol ester storage disease. LAL hydrolyses LDL-derived triglycerides and cholesterol esters to glycerol or cholesterol and free fatty acids. Its deficiency leads to accumulation of intracellular triglycerides and/or cholesterol esters. 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. Adrenal calcification is a striking feature but is present in only about 50% of cases. We report a case of an infant presenting with vomiting, diarrhoea, hepatosplenomegaly and poor weight gain that was subsequently diagnosed as Wolman's disease. He was entered into a clinical trial for LAL replacement therapy. This case reinforces that early onset LAL deficiency should be considered in a baby presenting with failure to thrive, gastrointestinal symptoms and hepatosplenomegaly.

PubMedSearch : Sadhukhan_2014_BMJ.Case.Rep_2014_
PubMedID: 24832708

Related information

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Citations formats

Sadhukhan M, Saha A, Vara R, Bhaduri B (2014)
Infant case of lysosomal acid lipase deficiency: Wolman's disease
BMJ Case Rep 2014 :

Sadhukhan M, Saha A, Vara R, Bhaduri B (2014)
BMJ Case Rep 2014 :