Acute Intermittent Porphyria: A Diagnostic Challenge

Porphyrias refer to a group of rare inherited metabolic disorders resulting from reduced activity of any of the enzymes in the heme production pathway. Accumulation of the porphyrin precursors is associated with diverse pathologic changes, and become the basis for diagnostic tests (1). Acute intermittent porphyria (AIP) is the most common type of porphyrias, and seizures are typically a manifestation of acute attacks. AIP can also be associated with idiopathic or symptomatic epilepsy (2). Since many antiepileptic drugs can worsen the patient’s condition or disease attacks, knowledge of the effects of AEDs is important. Trying to treat seizures may unmask AIP, which has been previously hidden. Due to the broad spectrum of clinical symptoms, porphyry diagnosis depends on a strong clinical suspicion (3). We present here a child with the final diagnosis of porphyria.