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

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.

Clinical, biochemical characteristics and hospital outcome of acute intermittent porphyria patients: A descriptive study from North India

“…In a study from the Indian subcontinent, four out of six patients had gastrointestinal symptoms and seizures at the time of presentation. [ 20 ] A descriptive observational study from South Africa reported seizures in five AIP attacks. [ 13 ] Clinical, biochemical, and genetic features of ninety AIP patients were reported in an observational study from the USA.…”

Variegate Porphyria

“…[192][193][194] Milder acute attacks may settle spontaneously. More severe cases will become protracted and may be complicated by a number of serious problems such as flaccid quadriparesis, 31,182,195,196 seizures, 155,181,[195][196][197] encephalopathy, severe hyponatremia, 139,155,197 and the posterior reversible encephalopathy syndrome. 195,[198][199][200] In our experience, seizures, which are uncommon, are often secondary to factors such as hyponatremia 155,172 and the use of meperidine in high doses.…”

Pathophysiological or Empirical Approach to the Pharmacotherapy of Epilepsy?

“…cytochrome P-450) provoke acute deterioration. The emergence of seizures is interpreted by: 1) increased AmLev quantity which blocks GABA receptors, 2) decreased HEM which affects neurotransmitters (triptophan -serotonin), 3) electrolyte disorder due to vomiting (28).…”