Teaching Video NeuroImages: Wilson Disease Presenting With Catatonia.

Abstract

A 29-year-old man with a history of depression on fluoxetine presented with 4 months of progressive abdominal pain and hypoactive encephalopathy. On examination, he was nonresponsive, bradykinetic, spastic, and had catatonia with waxy flexibility (video 1). Bush-Francis Catatonia Rating Scale score was 28 (table). He had new liver cirrhosis; serum ceruloplasmin was low and 24-hour urine copper was elevated. MRI revealed abnormal signal in basal ganglia and pons (figure). Two heterozygous mutations in the ATP7B gene (c.1934T > G and c.207 G > T) confirmed the diagnosis of Wilson disease. Zinc and penicillamine were initiated for copper reduction; catatonia did not respond to benzodiazepines. He was discharged home but required full care from family (nonambulatory, required help with all activities of daily living), and neurologic status was unchanged 3 months after discharge. Catatonia is a rare and underappreciated manifestation in Wilson disease1; early recognition is essential for prompt initiation of chelation therapy.2