Cerebral hypoventilation syndrome refers to a congenital condition characterized by hypoventilation during sleep with no other abnormalities of the cardiorespiratory system. There is a decrease in the depth of breathing.
It is also known as central sleep apnea, congenital central hypoventilation syndrome or Ondine’s curse.
This condition has an association with Hirschsprung disease (especially total colonic aganglionosis) with equal incidence in both sexes.
Approximately 50% of cerebral hypoventilation syndrome patients are known to have Hirschsprung disease and ~20% those patients will also have neuroblastoma or ganglioneuroma, usually multiple with associated abnormalities of the eye and autonomic nervous system 1.The aganglionosis is severe and is seen to extend into the small bowel.
Other associated features:
Treatment and prognosis
The respiratory symptom is detected on the first day of birth with the patient quickly given ventilatory support while the Hirschsprung disease is confirmed through barium studies and rectal biopsy.
History and etymology
Ondine’s curse, named after a figure from Germanic mythology 4,6.
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- 3.Bolk S, Angrist M, Schwartz S et-al. Congenital central hypoventilation syndrome: mutation analysis of the receptor tyrosine kinase RET. Am. J. Med. Genet. 1996;63 (4): 603-9. doi:10.1002/(SICI)1096-8628(19960628)63:4<603::AID-AJMG14>3.0.CO;2-M - Pubmed citation
- 4.Poceta JS, Strandjord TP, Badura RJ et-al. Ondine curse and neurocristopathy. Pediatr. Neurol. 1989;3 (6): 370-2. Pubmed citation
- 5.Roshkow JE, Haller JO, Berdon WE et-al. Hirschsprung's disease, Ondine's curse, and neuroblastoma-manifestations of neurocristopathy. Pediatr Radiol. 1989;19 (1): 45-9. Pubmed citation
- 6. Nannapaneni R, Behari S, Todd NV et-al. Retracing "Ondine's curse". Neurosurgery. 2006;57 (2): 354-63. Pubmed citation
- 7. Orrego-González E, Medina-Rincón GJ, Martínez-Gil S, Botero-Meneses JS. Ondine's curse: the origin of the myth. (2020) Arquivos de neuro-psiquiatria. 78 (4): 238-240. doi:10.1590/0004-282X20190162 - Pubmed