hrp0089p2-p048 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

Infantile Arterial Calcification and Subsequent Hypophosphatemia due to ENPP1 Mutation – A Case Followed through to Adulthood

Nour Munier , Inman Mark , Arnason Terra

Introduction: Infantile Arterial Calcification (IAC) is a rare and frequently lethal condition. Children who survive the infantile period may develop fibroblast growth factor 23 (FGF23) mediated hypophosphatemia and rickets when IAC is due to mutations in the ENPP1 gene.Case: We present a female patient born to a family whose previous child died at birth with extensive vascular calcifications. Akin to the first sibling, our case presented with e...