Abstract
Wilson’s disease (WD) is an autosomal recessive disorder caused by mutation in ATP7B gene, in which clinical manifestations are caused by copper toxicity and primarily involve the liver and brain. An impairment in biliary excretion process leads to copper accumulation in the liver, which progressively damages the liver, leading to cirrhosis. Since effective treatment is available for this disease, early and correct diagnosis is very important. This case report describes a 28 year old male patient of Wilson’s disease with predominant neurological manifestations due to widespread involvement of basal ganglia and cerebellum in absence of a Kayser-Fleischer Ring (KF Ring).
Key Words: Wilson’s disease, ATP7B gene, Neurological manifestation, Kayser-Fleischer Ring.
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Corresponding Author
Dr Rahul Kumar
Senior Resident, Department of Medicine, VMMC & Safdarjung Hospital, New Delhi-110029
Postal address- Ward 11, H- Block, Safdarjung Hospital, New Delhi-110029
Email: This email address is being protected from spambots. You need JavaScript enabled to view it.
DOI: https://dx.doi.org/10.18535/jmscr/v5i9.09
