ba0007p122 | (1) | ICCBH2019
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...