The investigation and care of children with congenital central hypoventilation syndrome

Abstract

Congenital central hypoventilation syndrome (CCHS)—previously commonly known as ‘Ondine's curse’—is a rare congenital condition in which there is an abnormality of control of respiration in the absence of any identifiable primary central nervous system, neuromuscular, lung or cardiac disease. Affected children show hypoventilation during sleep, especially non-rapid-eye-movement (non-REM) sleep, but some severely affected patients may hypoventilate while awake. Approximately 300 cases of CCHS have been identified worldwide. In many families CCHS is inherited as a single-gene autosomal-dominant condition with incomplete penetrance. With well-co-ordinated multiprofessional care, most affected children survive with a good quality of life, though most remain permanently dependent upon assisted ventilation during sleep. In this article we outline current knowledge of the genetics and pathophysiology of CCHS and provide an outline of optimal care and investigation of affected children.