Strokelike presentation of Wilson disease with homozygosity for a novel T766R mutation

Abstract

Wilson disease is an inherited autosomal recessive disorder in which there is copper accumulation particularly in the liver and brain. The onset is usually insidious, although acute liver or hematologic,1,2⇓ but not neurologic, syndromes have been described. We report a case of Wilson disease in which the patient had sudden onset of neurologic symptoms and signs leading to an initial misdiagnosis of stroke. A 17-year-old boy sought treatment at the emergency department; he had been well until that morning, when he had awoken with slurred speech, difficulty swallowing solids, and problems walking. He had also noticed intermittent involuntary movement of his thumbs across his palms. There was no remarkable medical or family history, although he had lost weight during the preceding year. He denied drug use and was taking no medication. The patient, his family, and the team …