congenital central hypoventilation syndrome; congenital failure of autonomic control; congenital Ondine curse (CCHS)
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Epidemiology
rare
Pathology
- deficiency in autonomic control of respiration results in inadequate or negligible ventilatory & arousal responses to hypercapnia & hypoxemia
- neurocristopathies, i.e. Hirschsprung disease (16% of cases)
Genetics
- associated with defects in PHOX2B (91%)
- most mutations consist of 5-10 Ala expansions in the poly-Ala region from amino acids 241-260
- associated with defects in RET
- associated with defects in BDNF
- associated with defects in EDN3
- associated with defects in GDNF
Clinical manifestations
- abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion
- patients are often able to maintain rhythmic, but suboptimal respirations when awake
- during sleep, patients develop further deterioration in ventilation with frequent episodes of central hypopnea or central sleep apnea
- most patients do not survive infancy
Diagnostic procedures
- polysomnography:
- hypoventilation most marked during slow-wave sleep
Complications
- respiratory arrest during sleep
- fatal if untreated
Management
- see Ondine's curse