Wolman disease: diagnosis by leucocyte acid lipase estimation.
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2005-04-07
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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.
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Surve TY, Muranjan MN, Barucha BA. Wolman disease: diagnosis by leucocyte acid lipase estimation. Indian Journal of Pediatrics. 2005 Apr; 72(4): 353-4