A 12 year old girl presents with tremors and emotional lability. Slit lamp examination of eye shows golden brown discoloration in the Descements membrane. What is the most appropriate diagnosis for this patient?
Correct Answer: Wilson's disease
Description: The clinical features in this patient are diagnostic of Wilson's disease. Wilson's disease is an Autosomal recessive disorder caused by mutation in the ATP7B gene. ATP7B protein deficiency impairs biliary copper excretion, resulting in positive copper balance, hepatic copper accumulation, and copper toxicity from oxidant damage. Clinical presentation can be hepatic, neurologic and psychiatric. Hepatic involvement results in hepatitis, cirrhosis, or hepatic decompensation. Neurologic involvement result in dystonia, incoordination and tremor. Psychiatric manifestations include behavioral disturbances, depression, hyperactivity or loss of sexual inhibition. Investigations show low ceruloplasmin, increased free copper levels and KF rings. The gold standard for diagnosis is liver biopsy with quantitative copper assays. ATP 7A gene mutation: Menkes Kinky Hair Syndrome KESHAN Disease: Endemic cardiomyopathy due to selenium deficiency Acrodermatitis Enteropathica: Abnormality in zinc absorption Ref: Harrison's Principles of Internal Medicine, 18th Edition, Pages 3188, 3193 ; APLS : The Pediatric Emergency Medicine Resource By Marianne Gausche-Hill, 4th Edition, Page 118
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