Congenital central hypoventilation syndrome and hypoglycaemia

Abstract

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder typically presenting in infants with an impaired automatic control of breathing, particularly during sleep, and often associated with variable patterns of autonomic nervous system dysregulations. We studied three children who had CCHS associated with episodes of severe hypoglycaemia and hyperinsulinaemia; we discuss the possible relationship with impaired dopamine-beta-hydroxylase function. Hypoglycaemia and hyperinsulinaemia might be suspected in children with CCHS presenting with seizures and hyperhydrosis; though, further studies are needed to confirm this association.