Searchable abstracts of presentations at key conferences on calcified tissues

ba0004p196 | (1) | ICCBH2015

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

Ramaswamy Priya , Ryalls Michael , Allgrove Jeremy

Background: A 3 month-old boy was born at term, to non-consanguineous parents by spontaneous vaginal delivery, in good condition, weighing 4.19 kg. Newborn examination, including eyes, was normal prior to discharge. He has two older brothers in good health.Presenting problem: He was admitted at 7 days of life with focal seizures and hypocalcaemia (1.5 mmol/l), hypomagnesaemia (0.6 mmol/l), hyperphosphataemia (3.7 mmol/l) and inappropriately low parathyro...