Title: Wilson’s Disease: Absence of Kayser-Fleischer Ring in a full blown neurological Wilson’s disease
Authors: Dr Rahul Kumar, Dr Seema Meena, Dr Umashankar U S, Dr Rajesh Manocha, Dr Bhandari Gurbir Singh, Dr Harshit Khosla, Dr Sahil Arora
DOI: https://dx.doi.org/10.18535/jmscr/v5i9.09
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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