Abstract
Wilson’s disease (WD), also known as hepatolenticular degeneration, is an inborn error of metabolism inherited as an autosomal recessive trait, characterized by toxic accumulation of copper in the body, particularly liver, brain and eyes. In children,WD presents more often with hepatic manifestations like acute hepatitis,cirrhosis of liver or liver failure.We present an unusual presentation of WD in a 15 years old male child who presented with neuropsychiatric manifestations without hepatic involvement. DOI: http://dx.doi.org/10.3329/jom.v13i1.10086 JOM 2012; 13(1): 103-105
Highlights
Case Report: A 15 years boy, 1st offspring of nonconsanguineous marriage, was admitted into DMCH with the complaints of slurring of speech followed by inability to speak, difficulty in swallowing and drooling for two years and difficulty in walking followed by abnormal posture and inability to walk for 1 year and involuntary, abnormal movements for last 6 months
All these complaints were preceded by some behavioral disorders in the form of excessive anger, occasional irrelevant speech and poor concentration
There was no history of jaundice, abdominal swelling, haematemesis or malaena
Summary
Wilson’s disease(hepatolenticular degeneration)is an autosomal recessive disorder caused by mutations in the ATP7B gene,a membrane bound copper transporting ATPase.ATP7B protein deficiency impairs biliary copper excretion, resulting in a positive copper balance, hepatic copper accumulation and copper toxicity from oxidant damage.As the disease progresses, nonceruloplasmin serum copper level increases, resulting in copper build up in other parts of the body.1The organs most affected are liver,basal ganglia of the brain, eyes, kidneys and skeleton.2WD has a drastically varied clinical presentations that lead to diagnostic difficulties.3Symptoms usually arise from age 5 to 45 years.2The presenting feature in young patient,in 1st and 2nd decade of life, is mainly of hepatic origin, ranging from asymptomatic, with only biochemical abnormalities, to acute liver failure or cirrhosis of liver.3Neurological damage tend to present in later adolescent.2Here we report a case report of WD with neurological features in a 15 years old child, as apposed to the hepatic involvement as expected in a patient of his age group. Case Report: A 15 years boy, 1st offspring of nonconsanguineous marriage, was admitted into DMCH with the complaints of slurring of speech followed by inability to speak, difficulty in swallowing and drooling for two years and difficulty in walking followed by abnormal posture and inability to walk for 1 year and involuntary, abnormal movements for last 6 months All these complaints were preceded by some behavioral disorders in the form of excessive anger, occasional irrelevant speech and poor concentration. There was no history of jaundice, abdominal swelling, haematemesis or malaena There was severe muscle wasting, deep tendon reflexes were absent with bilateral planter withdrawal, but ankle clonus was present He had abnormal eye movements and dysphagia. Combined treatment with both zinc and penicillamine was started with significant improvement
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