ArticleBMJ case reports2021
Status epilepticus secondary to hyperammonaemia: a late presentation of an undiagnosed urea cycle defect.
Article in BMJ case reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed, 3 citations in OpenAlex.
- Fatal ornithine transcarbamylase deficiency presentation postresection of fourth ventricle ependymoma: illustrative case.Journal of neurosurgery. Case lessons · 2025Article
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3 authors at 2 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
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.
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