Searchable abstracts of presentations at key conferences in endocrinology

ea0039ep20 | Bone | BSPED2015

Early onset cataract in an infant with activating calcium-sensing receptor mutation

Ramaswamy Priya , Ryalls Mike , Allgrove Jeremy

We present a 3-month-old boy who was born at term, to non-consanguineous parents by spontaneous vaginal delivery, weighing 4.19 kg. Newborn examination, including eyes, was normal. He was admitted at 7 days of life with focal seizures and hypocalcaemia, hypomagnesaemia, hyperphosphataemia, and inappropriately low parathyroid hormone (PTH) levels. He was treated with i.v. calcium and magnesium infusions and discharged on oral calcium, magnesium, and alfacalcidol. He was re-admi...