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Status epilepticus secondary to hyperammonaemia: a late presentation of an undiagnosed urea cycle defect
  1. Penelope Beddoes1,
  2. Gabriela Nerone1 and
  3. Charlotte Tai1,2
  1. 1Critical Care and Anaesthetics, Whipps Cross University Hospital NHS Trust, London, UK
  2. 2Respiratory Medicine, Saint Bartholomew's Hospital Barts Heart Centre, London, UK
  1. Correspondence to Dr Charlotte Tai; charlotte.tai{at}nhs.net

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.

  • metabolic disorders
  • adult intensive care
  • epilepsy and seizures
  • drugs: psychiatry
  • schizophrenia

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Footnotes

  • Twitter @PABeddoes, @drcharlottetai

  • Contributors GN and PB contributed equally to the manuscript in terms of conception of the work, acquisition, analysis and interpretation of the data, and drafting and approval of the version to be published. CT contributed in terms of conception of the work, revising and approval of the version to be published.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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