Acute intermittent porphyria presenting with posterior reversible encephalopathy syndrome: A case report

Abstract

Acute intermittent porphyria (AIP) is an inborn error caused due to inherited deficiency of porphobilinogen (PBG) deaminase leading to increased levels of aminolevulinic acid and PBG. AIP is rarely associated with posterior reversible encephalopathy syndrome (PRES). This association is important because drugs used in the management of seizures may worsen an attack of AIP. We report the case of a 10-year-old male child with AIP, who presented with encephalopathy and transient blindness of cerebral origin.

Keywords

• acute porphyria
• blindness
• hypertension
• neurological
• posterior reversible encephalopathy syndrome