Acute Intermittent Porphyria (AIP): A Difficult Diagnosis

Abstract

Acute intermittent porphyria (AIP) is a rare autosomal dominant disorder of heme biosynthesis but usually carry a good prognosis, if the condition is picked up early. Nonspecific nature of symptoms make it difficult to diagnose as a cause of acute neurovisceral attacks; thus demands high level of suspicion and early screening with necessary investigation to rule in the diagnosis. Here, we present a case of acute abdominal pain accompanied by weakness which rapidly progressed to seizure and quadriplegia and was associated with altered mental status. With the history of gastrointestinal symptoms correlating with presenting complaints was earlier misdiagnosed as Guillain–Barre syndrome. Later, MRI brain was suggestive of posterior reversible encephalopathy syndrome. On further evaluation, darkening of urine was observed leading to suspicion of AIP. Ehrlich test and Watson–Schwartz test was done which helped in coming to the right diagnosis and hence appropriate management.

Keywords

• acute intermittent porphyria
• ehrlich test
• porphobilinogen
• posterior reversible encephalopathy syndrome
• watson–schwartz test