Endocrine Abstracts

Introduction: Vitamin D deficiency is increasingly recognised as an important cause of neonatal hypocalcaemia. In this case report, we discuss the impact of co-existing vitamin D deficiency on the diagnostic process in a preterm infant who had refractory hypocalcaemia due to hypoparathyroidism resulting from a homozygous GCM2 mutation.

Case report: A 33-week gestation male infant of Pakistani extraction was found to be profoundly hypocalcaemic with seizures and cataract formation. The hypocalcaemia was initially ascribed to vitamin D deficiency, as the neonate and his mother were both found to have low levels of vitamin D. However, the refractory nature of the hypocalcaemia and high doses of calcium supplementation required even when the vitamin D levels had normalised prompted a search for co-existing pathology. A persistently low parathyroid hormone level was identified in the baby, with normal PTH level in both parents, and he was subsequently found to have a homozygous GCM2 mutation recognised to result in hypoparathyroidism.

Conclusions: Although it is well-recognised that ‘common things are common’, it is important to reassess a clinical situation when the clinical response is not as expected to standard treatment. Both rare and common pathologies can co-exist within the same presentation.