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