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congenital central hypoventilation syndrome; congenital failure of autonomic control; congenital Ondine curse (CCHS)
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
Special laboratory:
- polysomnography:
- hypoventilation most marked during slow-wave sleep
Complications:
- respiratory arrest during sleep
- fatal if untreated
Management:
- see Ondine's curse
General
central hypoventilation syndrome; primary alveolar hypoventilation; Ondine's curse
neurocristopathy
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 209880
References
- OMIM :accession 209880
- UniProt :accession Q99453