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Neurological rarities
Acute intermittent porphyria presenting with posterior reversible encephalopathy syndrome (PRES) and abdominal pain
  1. Grace Swart1,2,
  2. Su San Lim1,
  3. Martin Jude1,3
  1. 1 Neurology Department, Wagga Wagga Base Hospital, Wagga Wagga, Australia
  2. 2 Neurology Department, St Vincent’s Hospital Sydney, Sydney, Australia
  3. 3 Wagga Wagga Rural Clinical School, University of New South Wales, Wagga Wagga, Australia
  1. Correspondence to Dr Grace Swart, Neurology, Wagga Wagga Base Hospital, Wagga Wagga, NSW 2650, Australia; grace.lu{at}health.nsw.gov.au

Abstract

Acute intermittent porphyria is a rare genetic condition in which disrupted haem synthesis causes overproduction of porphyrin precursors. Occasionally, it is associated with posterior reversible encephalopathy syndrome (PRES), presenting with headache, confusion, seizures and visual disturbance. We describe a patient with acute intermittent porphyria who presented with seizures and PRES, and who had previous unexplained severe abdominal pain. Acute intermittent porphyria should be considered as a possible cause of PRES, especially in those with unexplained abdominal pain, since delays in its diagnosis can result in permanent complications.

  • NEUROIMMUNOLOGY

https://doi.org/10.1136/practneurol-2020-002599

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    Footnotes

    • Contributors GS and SSL contributed to the writing of the first draft and obtained consent. MJ provided expertise in the reviewing of the report. All authors gave final approval for the version to be published and agree to be accountable for the accuracy of the article.

    • 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.

    • Patient consent for publication Obtained.

    • Data sharing statement There are no unpublished data.

    • Provenance and peer review Not commissioned. Externally peer reviewed by Mike Badminton, Cardiff, UK.

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