Dr. NIDHI SINGH

Dr. ASHOK RATHI, Dr. RAJENDRA SINGH CHAUHAN, Dr. JOGINDER PAL CHUGH

Abstract

Wilson’s disease also known as hepatolenticular degeneration, is a hereditary disorder of copper metabolism which is associated with neuropsychiatric symptoms as well as by Kayser-Fleischer ring. Here, we present an interesting case of a 28 years old patient, a known case of long standing wilson disease presenting with features of gradually progressive dysphagia, dysarthria, abdominal discomfort and difficulty in maintaining balance, referred for ophthalmic evaluation for ocular manifestation of neuro-wilson disease. He had BCVA of 6/6 both eyes with Kayser Fleischer (KF) Ring on slit lamp examination following which ceruloplasmin and urine copper levels were examined. the same were found to be derranged. The presence of dense KF ring conveyed that patient was not on treatment for already diagnosed chronic disease which led worsening of symptoms. He was admitted in general medicine and was started on penicillamine which led to remission of neuropsychiatric symptoms and ataxia.