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What is A 12 year old girl with the mood and emotional liability has a golden brown discoloration in descement membrane. Most likely diagnosis is ? and explain in detail?
Ans. is 'b' i.e., Wilson's disease Emotional liability, tremors (Neurological symptoms) with brown discoloration of descemet's membrane of coenea suggest the diagnosis of Wilson's disease. Wilson's disease ? o It occurs due to reduced mobilization of copper from lysosomes in liver cells for excretion into the bile. o Abnormal gene for Wilson's disease is on long arm of chromosome 13 (AR). Clinical features ? o Younger patient likely to develop hepatic involvement. o Later on Neurologic manifestation like tremor, dystonia, behavioral changes also develops. o K-F rings may be absent in young patients with liver diseases but are always present in patient with neurologic symptoms. o Hemolysis may be an initial manifestation. Sensory changes never occur. Diagnosis ? o Decrease ceruloplasmin level o Liver biopsy