Acute Intermittent Porphyria With Epilepsy as the Initial Symptom and Posterior Reversible Encephalopathy Syndrome: A Case Report

TL;DR

A rare case of acute intermittent porphyria presented with epilepsy and brain imaging changes, highlighting the need for early diagnosis.

Contribution

This case report highlights AIP as a potential cause of epilepsy and PRES, expanding diagnostic awareness.

Findings

AIP can present with epilepsy as an initial symptom.

PRES was observed in conjunction with AIP in this case.

Combining epilepsy and PRES may indicate AIP and warrant metabolic screening.

Abstract

Acute intermittent porphyria (AIP) is a rare hereditary metabolic disorder, manifesting in a series of neuropsychiatric symptoms and abdominal pain. Posterior reversible encephalopathy syndrome (PRES) is also an uncommon clinical syndrome characterized by localized cerebral edema in the posterior part of the brain, accompanied by abnormal signal changes in white matter areas. Typically, AIP lacks specific clinical symptoms and cranial imaging features, making the diagnosis difficult. In this case, a young male with AIP presented with intermittent abdominal pain prior to epilepsy. Therefore, the diagnosis of AIP should be considered when epilepsy is associated with PRES.

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