Wolman disease: diagnosis by leucocyte acid lipase estimation.

Abstract

Wolman disease is a rare fatal autosomal recessive disorder caused by absence of acid lipase enzyme leading to accumulation of cholesterol ester. Hepatosplenomegaly is a constant feature and occurs as early as fourth day of life. Progressive mental deterioration may occur after few weeks of onset of symptoms. Adrenal calcification seen on X-ray abdomen, USG or CT scan is the hallmark of Wolman disease. For the first time in Indian literature, the authors report a case of Wolman disease that was confirmed by acid lipase enzyme estimation.

• Authors: Talib Y Surve, Mamta N Muranjan, B A Barucha
• Journal: Indian journal of pediatrics (Indian J Pediatr) Vol. 72 Issue 4 Pg. 353-4 (Apr 2005) ISSN: 0973-7693 [Electronic] India
• PMID: 15876766 (Publication Type: Case Reports, Journal Article)

Chemical References

• Lipase

Topics

• Humans
• Infant
• Leukocytes (enzymology)
• Lipase (blood)
• Male
• Spectrophotometry
• Wolman Disease (diagnosis, enzymology)