Congenital central hypoventilation syndrome: a neurocristopathy with disordered respiratory control and autonomic regulation.

摘要: Congenital central hypoventilation syndrome (CCHS), a rare neurocristopathy with disordered respiratory control, is characterized by alveolar and diffuse autonomic nervous system (ANS) dysregulation. Mutations in the paired-like homeobox 2B (PHOX2B) are causative, leading to physiologic ANS dysregulation pathologic abnormalities. Presentation typically during newborn period sleep, or more severely affected individuals, sleep wakefulness. Breathing complications occur despite lungs airways being normal. Disordered control demonstrated absent attenuated ventilatory, behavioral, arousal responses both endogenous exogenous hypoxemia hypercarbia results severe compromise.