Acute Intermittent Porphyria in a Child with Severe Neuropathy

Elena Di Pierro, Francesca

Abstract

Clinical presentation of acute intermittent porphyria before puberty is unusual. We diagnosed the non-erythroid variant form of this disease in a male child, who first presented, at the age of 6 years, with unexplained neurological symptoms and behavioural abnormalities. We also report the successful treatment, and the long-term clinical management.