Congenital wilson&;s disease is characterized by
Correct Answer: May present as acute hepatitis
Description: Wilson disease is an inborn error of metabolism due to toxic accumulation of copper in liver,brain,cornea and other tissues.Manifestations are more likely to be hepatic in early childhood & neurological in adolescents or adults.The spectrum of hepatic manifestations include all forms of acute or chronic liver disease,i.e.,&;viral hepatitis&; like illness,acute liver failure,chronic hepatitis,poal hypeension,cirrhosis or asymptomatic hepatomegaly.KF (Kayser-Fleischer)/rings are most common in children with neurological(96%) than hepatic(60%) Wilson disease. Wilson disease is characterised by decreased serum ceruloplasmin & increased urinary copper excretion with increased hepatic copper stores. Reference:Essential pediatrics-Ghai,8th edition,page no:320,321
Category:
Pediatrics
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