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Acute intermittent porphyria (AIP) is an inherited deficiency in the haem biosynthesis pathway. AIP is rare, affecting around 1 in 75 000 people. Acute attacks are characterised by abdominal pain associated with autonomic, neurological and psychiatric symptoms. AIP is rarely associated with posterior reversible encephalopathy syndrome (PRES). PRES is a clinicoradiological condition caused by the failure of the posterior circulation to autoregulate, resulting in cerebral oedema, headaches, nausea and seizures. This association is important because drugs used in the management of seizures may worsen an attack of AIP. This article describes a case of AIP and PRES in a young woman.

Original publication

DOI

10.1136/bcr-2016-215350

Type

Journal article

Journal

BMJ Case Rep

Publication Date

08/06/2016

Volume

2016

Keywords

Abdominal Pain, Adult, Female, Humans, Magnetic Resonance Imaging, Porphyria, Acute Intermittent, Porphyrins, Posterior Leukoencephalopathy Syndrome, Seizures