A 12 year old girl with the mood and emotional liability has a golden brown discoloration in descement membrane. Most likely diagnosis is ?
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
Fabry's disease
Wilson's disease
Glycogen storage disease
Acute rheumatic fever