RT Journal Article
SR Electronic
T1 Status epilepticus secondary to hyperammonaemia: a late presentation of an undiagnosed urea cycle defect
JF BMJ Case Reports
JO BMJ Case Reports
FD BMJ Publishing Group Ltd
SP e238023
DO 10.1136/bcr-2020-238023
VO 14
IS 5
A1 Penelope Beddoes
A1 Gabriela Nerone
A1 Charlotte Tai
YR 2021
UL http://casereports.bmj.com/content/14/5/e238023.abstract
AB In this report, we describe the diagnosis, investigation and management of a patient presenting with refractory status epilepticus secondary to a previously unrecognised urea cycle defect, ornithine transcarbamylase deficiency, causing a hyperammonaemic encephalopathy. While metabolic disorders will be readily considered in a paediatric population presenting with difficult seizures, it is unusual for such cases to present in adulthood, and maintaining a broad differential in patients with status epilepticus is important. Early recognition and initiation of treatment are vital. Furthermore, the patient had been diagnosed with schizophrenia over a decade previously and more recently started on sodium valproate, a medication known to contribute to hyperammonaemia. This case also emphasises the importance of exclusion of underlying organic disease prior to diagnosis of psychiatric conditions.