Wolman disease: diagnosis by leucocyte acid lipase estimation.
Indian J Pediatr
;
2005 Apr; 72(4): 353-4
Article
in English
| IMSEAR
| ID: sea-83141
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Spectrophotometry
/
Humans
/
Male
/
Wolman Disease
/
Infant
/
Leukocytes
/
Lipase
Type of study:
Diagnostic study
Language:
English
Journal:
Indian J Pediatr
Year:
2005
Type:
Article
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