Wolman disease: Diagnosis by leucocyte acid lipase estimation

Autor: B. A. Barucha, Talib Y. Surve, Mamta N. Muranjan
Rok vydání: 2005
Předmět:
Zdroj: The Indian Journal of Pediatrics. 72:353-354
ISSN: 0973-7693
0019-5456
DOI: 10.1007/bf02724020
Popis: 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.
Databáze: OpenAIRE