Rupture of Renal Pelvis Secondary to Obstructing Calculus in Menkes Disease: A Case Report

Abstract

INTRODUCTION Menkes disease is a rare X-linked hereditary multisystem disorder due to a defect in copper metabolism caused by a mutation in the ATP7A gene.1 Patients can present with neurodegenerative manifestations and multiple connective tissue abnormalities.1 We report the case of a 4-year-old boy, known to have Menkes disease, who presented with an obstructive ureteric stone complicated by rupture of the renal pelvis.