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central hypoventilation syndrome; primary alveolar hypoventilation; Ondine's curse
Etiology:
- congenital (most common)
- brainstem infarction
Epidemiology:
- rare
- no gender predilection
Pathology:
- deficiency in autonomic control of respiration results in inadequate or negligible ventilatory & arousal responses to hypercapnia & hypoxemia
- other neurocristopathies:
- neuroblastoma, Hirschsprung disease (16%)
- dysphagia may occur with brainstem infarction
Genetics:
- mutations 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:
- variations in severity
- 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:
- avoid opiates & sedatives (respiratory depression)
- ventilatory assistance during sleep
- mechanical ventilation
- biphasic cuirass ventilation
- phrenic nerve pacing/diaphragm pacing
Related
sleep apnea
Specific
congenital central hypoventilation syndrome; congenital failure of autonomic control; congenital Ondine curse (CCHS)
General
syndrome
hypoventilation
central sleep apnea
References
- Harrison's Principles of Internal Medicine, 13th ed.
Isselbacher et al (eds), McGraw-Hill Inc. NY,
1994, pg 1236
- Wikipedia: Ondine's curse
http://en.wikipedia.org/wiki/Ondine%27s_curse
- OMIM :accession 209880
- UniProt :accession Q99453