Wilson’s disease presenting with unusual radiological features

Wilson’s disease (WD) is an inherited disorder of copper metabolism. It results in copper deposition in toxic concentrations in liver, brain, eye, etc. Radiological features in the form of extensive gray and white matter abnormalities are rare. Here we report a case of WD presenting with encephalopathy and unusual radiological features. A 26-year-old male, born out of nonconsanguineous marriage, presented with insidious onset difficulty in walking and sitting since 6 months and difficulty in speaking since 2 months. Patient was all right 6 months back, when gradual decline in academic performance and inability to carry out dayto-day activities with marked slowness was noticed. His past history was uneventful. There was no family history of similar complaints. On general physical examination, he had stuporous look and vacant stare. He comprehended vocal commands but was unable to vocalize. Motor examination showed generalized dystonia, exaggerated deep tendon reflexes, and a positive bilateral Babinski’s sign. The Kayser–Fleischer ring was visible on both sides by the naked eye, which was confirmed on slit lamp (Figure 1). On Abdominal examination, there was no hepatosplenomegaly. Chest and cardiac examination was normal. On laboratory examination, complete blood count, total serum bilirubin, total serum protein, serum transaminases, and alkaline phosphatase showed no abnormalities. Viral serologies for human immunodeficiency virus, hepatitis B antigen, antihepatitis C virus Ab were negative. Upper gastrointestinal endoscopy was also within normal limits. His serum ceruloplasmin was decreased to 0.10 g/l (normal 0.20-0.60 g/l), serum copper level slightly raised to 141.25 g/dl (normal 70-140 g/dl), and his 24 h urine copper excretion was increased to 541.68 μg (normal 24 h urine excretion 20-50 μg).