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Case Reports
. 2020 Aug;24(8):724-726.
doi: 10.5005/jp-journals-10071-23532.

Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome: A Rare Cause of Abdominal Pain and Seizures

Daram Sarala Kumari  1 , Murthy Nln Arumilli  1 , L Siva Kumar Reddy  1 , Duvvuru Nageshwar Reddy  2 , Revanth Motor  3
Affiliations
Case Reports

Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome: A Rare Cause of Abdominal Pain and Seizures

Daram Sarala Kumari et al. Indian J Crit Care Med. 2020 Aug.

Abstract

Acute intermittent porphyria (AIP) is an acute neurovisceral porphyria caused due to inherited deficiency of porphobilinogen deaminase (also called hydroxymethylbilane synthase) (HMBS) in the heme biosynthesis pathway. AIP is rarely associated with posterior reversible encephalopathy syndrome (PRES), which is a clinicoradiological condition caused by the failure of the posterior circulation to autoregulate, resulting in cerebral edema, headaches, nausea, and seizures. AIP should be considered when a patient presents with unexplained abdominal pain and seizures. This association is important because drugs used in the management of seizures may worsen an attack of AIP. This case report describes a young woman who presented with AIP and PRES with seizures.

How to cite this article: Sarala Kumari D, Murthy NLN Arumilli, Siva Kumar Reddy L, Nageshwar Reddy D, Motor R. Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome: A Rare Cause of Abdominal Pain and Seizures. Indian J Crit Care Med 2020;24(8):724-726.

Keywords: Acute intermittent porphyria; Porphyria; Posterior reversible encephalopathy syndrome.

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Conflict of interest statement

Source of support: Nil Conflict of interest: None

Figures

Figs 1A and B
Figs 1A and B
T2-FLAIR axial MRI images demonstrating areas of hyperintensities in bilateral fronto-parietal and temporo-occipital lobes characteristic of PRES
Fig. 2
Fig. 2
Genetic analysis report of the patient showing pathogenic variant of HMBS gene leading to AIP
See this image and copyright information in PMC

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