Acute intermittent porphyria in childhood: A neglected diagnosis?

Abstract

A boy aged 11 years with acute intermittent porphyria is reported. He presented with abdominal pain and generalized convulsions, and was found to have hypertension, hyponatraemia, and a red coloured urine containing porphobilinogen. In spite of being comatose for 3 days, the child made a full recovery, which may have been attributable to his treatment with sodium calcium versonate. 37 paediatric cases were found in reviewing published reports on acute intermittent porphyria. Though this disease is thought to be very rare in childhood, mild cases presenting merely with abdominal pain may escape diagnosis. A port-wine coloured urine was not always noticed in proven cases that have been published, possibly because the urine was not left standing long enough in some instances. In view of the potentially fatal outcome of a severe attack, a higher index of suspicion is essential in paediatric practice.