Case-history of anInteresting Case of Acute Intermittent Porphyria

Overview

Acute intermittent porphyria is one of a group of metabolic diseases called porphyrias. The biochemical problem involves deficiency of porphobilinogen deaminase converting porphobilinogento uroporphyrinogen I. This condition results to elevation of activity of d -aminolaevulesynthetasethat leads to an increase of production and excretion of d -aminolaevulic acid a prophobilinogen inurine. Acute exacerbation of acute intermittent porphyria may lead to gastrointestinal and nervous symptoms (gastrointestinal pain, nausea, vomiting, neuropathies, tremor, orhostatic hypoten-sion, desorientation, anxiety, mood disorders). The authors describe the interesting case ofa 23-year-old woman with a history of drug abuse (pervitine) who was for several weeks followedup for abdominal pain and consecutive development of peripheral quadruparesis. She was twiceadmitted to the surgical department and probatory laparoscopy with a normal finding was done.She was then transferred to the psychiatric department with the diagnosis of a dissociative disorder. Then she was admitted to the neurological ICU due to respiratory insufficiency and thediagnosis of acute intermittent porphyria was established.

Key words:
acute intermittent porphyria, neuritis, dissociative disorder.