Journal of Blood & Lymph

Acute Intermittent Porphyria in a Child with Severe Neuropathy

Abstract

Elena Di Pierro, Francesca Granata, Cristiano Rosafio, Stefano Marchini, Azzurra Guerra, Valentina Brancaleoni, Lorenzo Iughetti and Paolo Ventura

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.