ANALYSIS OF WILSON DISEASE – A NEUROLOGICAL PERSPECTIVE

*Dr. S. Ramu MD. DM. (Neuro)

ABSTRACT

Introduction: Wilson disease (WD) is autosomal recessive disorder of copper metabolism. Wilson disease patients usually suffer from hepatic or neuropsychiatric complications. The symptoms appear between ages five to 35 but it can vary from two years to 72 years. Materials and Methods: Study was carried out in department of neurology at Madurai medical college. This study included 13 cases of WD to determine clinical presentation, diagnostic findings (including laboratory results) and neurological presentation. It included 13 patients who presented with hepatic manifestations and/or Neuropsychiatric manifestations and/or family history suggesting features of WD. Patients with hepatitis B and C and those with history of taking antipsychotic drugs were excluded from the study. Patient’s data was included in a well-designed proforma. Liver function test, serum ceruloplasmin, blood complete picture was analyzed. Results: There were eight male and five female patients with evidence of various manifestations here (i) hepatic in which they had only liver dysfunction (ii) hepatic and neurological (iii) neurological. The mean age of presentation was 22.6 ±9.83years (range 13-51 years). Decreased serum ceruloplasmin were confirmed in all patients and Kayser–Fleischer rings (KF rings) in all patients. High degree of suspicion leads to early treatment with good outcome. Conclusions: The WD is rare but important cause of chronic liver disease and neurological illness. Clinical and biochemical analysis in cases of patients with unexplained neuropsychiatric symptom with high degree of suspicion can lead to early treatment with good outcome.

Keywords: Hepatic, neurological, neuropsychiatric disorder, Wilson disease.