Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p122 | (1) | ICCBH2019

Congenital hyperinsulinism of infancy in a child with autosomal dominant hypocalcaemia type 1 due to an activating calcium sensing receptor mutation

Sastre Ana , Shah Pratik , Gevers Evelien

Background: Autosomal dominant hypocalcaemia (ADH) is caused by activating mutations of the calcium sensing receptor (CaSR). Symptomatology ranges from asymptomatic hypocalcaemia to paraesthesia, tetani, laryngospasm and seizures. This is the first report of congenital hyperinsulinism (CHI) in a child with ADH.Presenting problem and clinical management: A female infant, born at term from non-consanguineous parents. She presented on D2 with persistent asy...