Acute intermittent porphyria presenting with neurological emergency: review of six cases

Neurol India. 2007 Oct-Dec;55(4):413-5. doi: 10.4103/0028-3886.33303.

Abstract

Acute intermittent porphyria presenting with short duration of gastrointestinal symptoms followed by rapidly progressive fulminant neurological syndrome during first attack is relatively uncommon. It is a neurological emergency and mimics many other psychiatric and medical disorders and can be fatal if it remains undiagnosed and untreated. Further, specific treatment in the form of Heme arginate is not universally available and very costly, so high clinical suspicion and early diagnosis and management of acute attack and prevention of further attacks are very important. We report a series of six cases who presented with convulsion and/or polyneuropathy early in the course of disease to highlight this fact.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Amines / therapeutic use
  • Anticonvulsants / therapeutic use
  • Cyclohexanecarboxylic Acids / therapeutic use
  • Emergency Medical Services
  • Female
  • Gabapentin
  • Humans
  • Lorazepam / therapeutic use
  • Male
  • Polyneuropathies / diagnosis
  • Polyneuropathies / etiology*
  • Porphyria, Acute Intermittent / complications*
  • Porphyria, Acute Intermittent / diagnosis
  • Pregnancy
  • Seizures / diagnosis
  • Seizures / etiology*
  • Young Adult
  • gamma-Aminobutyric Acid / therapeutic use

Substances

  • Amines
  • Anticonvulsants
  • Cyclohexanecarboxylic Acids
  • gamma-Aminobutyric Acid
  • Gabapentin
  • Lorazepam