Acute intermittent porphyria presenting with posterior reversible encephalopathy syndrome (PRES) and abdominal pain

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.

A case report of acute intermittent porphyria leading to severe disability

“…PRES is a reversible subcortical vasogenic cerebral edema, characterized by symptoms such as headache, seizures, encephalopathy, and visual disturbances. AIP is a rare cause of this condition ( 27 ). Recent studies examining the clinical features of AIP patients with PRES have revealed that the mean age of onset for PRES is between 24–44 years, with a significant predominance of women over men.…”

“…PRES is a reversible subcortical vasogenic cerebral edema, characterized by symptoms such as headache, seizures, encephalopathy, and visual disturbances. AIP is a rare cause of this condition (27).…”