Bone Abstracts

Background: Loss of function mutations of CYP24A1, encoding vitamin D-24-hydroxylase, have been recently identified in idiopathic infantile hypercalcemia (IIH), a rare entity which may lead to severe complications.Objective: We describe an infant with IHH due to a novel CYP24A1 mutation and a unique neurological presentation.Case presentation: The patient was born at term after normal pregnancy to healthy non-cons...