Congenital central hypoventilation syndrome diagnosis and treatment

Abstract

Congenital central hypoventilation syndrome(CCHS)is a rare disorder characterized by hypoventilation during sleep and blunted ventilatory responses to hypercapnia and hypoxemia.It is normally found in neonatal and infant.Late-onset cases have been reported recently.The paired-like homeobox gene PHOX2B is the disease-defining gene for CCHS; a mutation in the PHOX2B gene is requisite to the diagnosis of CCHS.As a lifelong disease, the key treatment is ensuring adequate ventilation and oxygenation, effective modalities include positive pressure ventilation, negative pressure ventilation and diaphragmatic pacing.The strategy of anti-mutant protein and the use of progestin open up clinical perspectives to enhance ventilation in CCHS patients. Key words: Children; Congenital central hypoventilation syndrome; Diagnosis; Treatment