Clinical Feature, Cause and Outcome in Female Paediatric Child with Osseomuscular Type of Wilson’s Disease

Introduction: Genetically inherited diseases have grown in the last few decades. Wilson’s disease is one of those, named after the U.S.-born British neurologist Dr. Samuel Alexander Kinnier Wilson.

Case Presentation: A 12 years old female child was admitted in A.V.B.R. hospital with the chief complaints of altered behaviour, speech disturbances, no physical coordination, uncontrolled movement since 2 to 3 months and fever since 2-3 days. Golden brown eye discoloration was present. After physical examination and investigation doctor diagnosed it as a case of Wilson’s disease.

The Main Diagnosis, Therapeutic Intervention and Outcomes: After physical examination and investigation doctor diagnosed this as a case of Wilson’s disease. Zinc and vitamin supplements were given for 7 days to enhance immunity. Beta-blocker was given For 7days twice a day, Tab. Trietinine 250 mg was given once a day for 7 days to remove the heavy metal i.e. copper. She took all treatment and outcome was good. Her signs and symptoms got reduced and she was able to do her routine activities.

Conclusion: The diagnosis of Wilson's disease relies largely on clinical examination and laboratory confirmation of abnormal metabolism of copper. This case responded well to all treatment and her recovery was good.