Late-onset ornithine transcarbamylase deficiency mimicking a focal opercular syndrome. Issue 3 (19th January 2022)

• Record Type: Journal Article
• Authors: Donlon, Eoghan; McGettigan, Jamie; Gaffney, Christine; Ahmad, Marzuki Wan; Boers, Peter; Treacy, Eileen; Chaila, Elijah
• Is Part Of: Practical neurology. Volume 22:Issue 3(2022)
• Page Start: 224
• Page End: 227
• Publication Date: 2022-01-19
• Subjects: metabolic disease -- clinical neurology; Neurology -- Periodicals; 616.8005
• DOI: 10.1136/practneurol-2021-003196
• Languages: English
• ISSNs: 1474-7758

Abstract

Abstract : A previously healthy 27-year-old man was brought to hospital after been found late at night confused, agitated and talking incoherently. He represented 12 days later with focal seizures, progressing to anarthria and encephalopathy. MR scan of brain showed diffuse cerebral oedema and his plasma ammonia was >2000 µmol/L (12–55 µmol/L). He developed refractory status epilepticus and subsequently died. Genetic analysis identified an ornithine transcarbamylase (OTC) gene mutation on the X chromosome. We discuss this atypical presentation of OTC deficiency as a rare but treatable cause of hyperammonaemic encephalopathy.