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...

ba0004p144 | (1) | ICCBH2015

Hypomagnesaemia due to lead poisoning in the context of a heterozygous CLDN-16 mutation

Ramaswamy Priya , Kurre Malathi , Muller Dominik , Dargan Paul , Gevers Evelien , Allgrove Jeremy

Background: 3 year old boy born to non-consanguineous parents. He was diagnosed to have autism at 2 years of age. He had a history of pica.Presenting problem: He was admitted with severe carpopedal spasms of hands and feet. Investigations revealed severe hypomagnesaemia at 0.26 (0.7–1.0) mmol/l, hypocalcaemia at 1.59 (2.2–2.6) mmol/l, hypokalaemia, hyponatremia and moderately low vitamin D levels. Parathyroid hormone concentration was low. Urin...