A Rare Case Report: Wilson’s Disease

Wilson's disease is Hepatolenticular degeneration and it is an autosomal recessive disorder. It is an uncommon genetic condition of the metabolism of copper that is predominantly brought on by alterations to the ATP7B gene. A fourteen-year-old male patient arrived with the chief complaints of one episode of convulsions lasting up to 15 to 30 min, abnormal movements of the upper and lower eyelids, postictal drowsiness, up rolling of the eyes, deviation of the mouth angle, low-grade fever, frothing at the mouth, 4 to 5 episodes of vomiting, and cluster pigmented knuckles. The ceruloplasmin test result was 6.82 mg/dL. The brain's CE MRI exhibits generalized cerebral and cerebellar atrophy. Administration of potassium sulfide further enhances copper absorption in the GI tract. Doctors need to identify the symptoms and related symptoms as soon as possible because early disease identification may lessen the severity of Wilson's disease and stop further complications.