Early-onset neonatal hypocalcaemia secondary to maternal vitamin D deficiency in an infant with DiGeorge syndrome: A first case report in Malaysia.

DiGeorge syndrome is a genetic disorder that is related to a wide range of defects affecting various parts of the body. The clinical expression shows marked variability making the diagnosis often missed or underdiagnosed. Here, we describe a neonate who presented with loud inspiratory stridor secondary to hypocalcaemia at birth. Physical examination revealed no abnormality other than evidence of congenital cardiac defect. Laboratory evaluations confirmed the diagnosis of maternal vitamin D deficiency that led to symptomatic hypocalcaemia in the newborn infant. The presence of hypocalcaemia coupled with episodes of recurrent infections led to the clinical suspicion of DiGeorge, which was later confirmed by fluorescence in situ hybridisation test.