Diagnostic difficulty in a patient with recurrent attacks of acute polyneuropathy: Acute intermittent porphyria

Abstract

Acute intermittent porphyria is one of the most common porphyria subtypes. There is a critical need to diagnose porphyria, given its multisystem nature and the poor prognosis associated with incurable cases. Here we present the case of a 27-year-old female patient who had severe abdominal pain and who was operated on due to ileus with tetraparesis that manifested following an operation. The patient had muscle weakness in four limbs and symptoms of sympathetic hyperactivity and electrolyte imbalance. Moreover, neurophysiological studies supported acute axonal polyneuropathy. Owing to the neurological symptoms, electrophysiological studies, metabolic disorders, and the severe abdominal pain noted, porphyria was suspected. Porphobilinogen and ALA levels increased in the 24-hour urine test, and the patient was diagnosed with acute intermittent porphyria. In patients who have unexplained recurrent abdominal pain with additional autonomic dysfunction, neurological and / or psychiatric findings, porphyria, a rare disease, should come to mind.

Keywords

• porphyria
• acute intermittent porphyria
• acute polyneuropathy
• motor axonal polyneuropathy
• porfiria
• akut intermittant porfiria
• akut polinöropati
• motor aksonal polinöropati