title: 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.affiliation: Department of Pediatrics, Seth G.S. Medical College & K.E.M. Hospital, Parel, Mumbai, India. talibsurve@rediffmail.com
authors.forename: Talib Y
authors.initials: TY
authors.lastname: Surve
authors.forename: Mamta N
authors.initials: MN
authors.lastname: Muranjan
authors.forename: B A
authors.initials: BA
authors.lastname: Barucha
mesh_terms: D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000201:enzymology*; D008049:Lipase / Q000097:blood*; D008297:Male; D013053:Spectrophotometry; D015223:Wolman Disease / Q000175:diagnosis* / Q000201:enzymology
chemical_list: D008049:Lipase