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Central hypoventilation syndrome

central hypoventilation syndrome, central hypoventilation syndrome in adults
Central hypoventilation syndrome CHS is a respiratory disorder that results in respiratory arrest during sleep CHS can either be congenital CCHS or acquired ACHS later in life It is fatal if untreated It is also known as Ondine's curse

ACHS can develop as a result of severe injury or trauma to the brain or brainstem1 Congenital cases are very rare and involves a failure of autonomic control of breathing In 2006, there were only about 200 known cases worldwide As of 2008, only 1000 total cases were known2 The diagnosis may be delayed because of variations in the severity of the manifestations or lack of awareness in the medical community, particularly in milder cases3 However, as there have been cases where asymptomatic family members also were found to have CCHS, it may be that these figures only reflect those found to require mechanical ventilation In all cases, episodes of apnea occur in sleep, but in a few patients, at the most severe end of the spectrum, apnea also occurs while awake

Although rare, cases of long-term untreated CCHS have been reported and are termed late onset CCHS LO-CCHS4 Cases that go undiagnosed until later life and middle age, although the symptoms are usually obvious in retrospect There have, however, even been cases of LO-CCHS where family members found to have it have been asymptomatic5 Again, lack of awareness in the medical community may cause such a delay6 CCHS susceptibility is not known to be affected by gender3


  • 1 Signs and symptoms
  • 2 Causes
  • 3 Diagnosis
  • 4 Treatment and prognosis
  • 5 History and etymology
  • 6 See also
  • 7 References
  • 8 External links

Signs and symptomsedit

CHS is associated with respiratory arrests during sleep and, in some cases, to neuroblastoma tumors of the sympathetic ganglia, Hirschsprung disease partial agenesis of the enteric nervous system,7 dysphagia difficulty swallowing and anomalies of the pupilla Other symptoms include darkening of skin color from inadequate amounts of oxygen, drowsiness, fatigue, headaches, and an inability to sleep at night Those suffering from Ondine's curse also have a sensitivity to sedatives and narcotics, which makes respiration even more difficult A low concentration of oxygen in the red blood cells also may cause hypoxia-induced pulmonary vasoconstriction and pulmonary hypertension, culminating in cor pulmonale or a failure of the right side of the heart8 Associated complications may also include gastro-esophageal reflux, ophthalmologic issues, seizures, recurrent pneumonia, developmental delays, learning disabilities and episodes of fainting and temperature disregulation9


CHS is exhibited typically as a congenital disorder, but in rare circumstances, can also result from severe brain or spinal trauma or injury such as after an automobile accident, stroke, asphyxiation, brain tumor, encephalitis, poisoning, as a complication of neurosurgery or due to particular neurodegenerative conditions such as Parkinsons and Multiple Sclerosis Long and Allen 1984 were the first to report the abnormal brainstem auditory-evoked responses in an alcoholic woman who recovered from Ondine's curse These investigators hypothesized that their patient's brainstem was poisoned—not destroyed—by her chronic alcoholism10

Medical investigation of patients with this syndrome has led to a deeper understanding of how the body and brain regulate breathing on a molecular level PHOX2B, a transcription factor involved in the development of neurons,11 can be associated with this condition12131415 This homeobox gene is important for the normal development of the autonomic nervous system

The disease used to be classified as a "neurocristopathy",1617 or disease of the neural crest because part of the autonomic nervous system such as sympathetic ganglia derives from the neural crest However, this denomination is no longer favored because essential neurons of the autonomic nervous system, including those that underlie the defining symptom of the disease respiratory arrests, are derived from the neural tube the medulla, not from the neural crest, although such mixed embryological origins are also true for most other neurocristopathies


Children with CCHS develop life-threatening episodes of apnea with cyanosis, usually in the first months of life Medical evaluation excludes lesions of the brain, heart, and lungs but demonstrates impaired responses to build-up of carbon dioxide hypercapnia and decreases of oxygen in the circulation hypoxia, the two strongest stimuli to increase breathing rate

Polysomnography shows that hypoventilation is most marked during slow-wave sleep In the most severe cases, hypoventilation is present during other nonrapid eye movement sleep stages and even wakefulness A subset of CCHS patients are at very high risk for developing malignant neural crest derived tumors, such as neuroblastoma

The sequence of PHOX2B reveals mutations in 91% of the cases7

As in many disorders that are very rare, an infant with this unusual form of sleep apnea suffers from the probability that their physician has most likely never seen another case and will not recognize the diagnosis In some locations, such as France, optimal management of patients, once identified, has been aided by the creation of a national registry and the formation of a network of centers

Treatment and prognosisedit

People generally require tracheostomy and lifetime mechanical ventilation on a ventilator in order to survive However, it has now been shown that biphasic cuirass ventilation can effectively be used without the need for a tracheotomy Other potential treatments for Ondine's curse include oxygen therapy and medicine for stimulating the respiratory system Currently problems arise with the extended use of ventilators, including fatal infections and pneumonia18

Most people with CCHS unless they have the Late Onset form do not survive infancy, unless they receive ventilatory assistance during sleep An alternative to a mechanical ventilator is diaphragm pacing19

History and etymologyedit

CCHS was first described in 1962 by Severinghaus and Mitchell in three patients following surgery to the upper cervical spinal cord and brainstem20

Its name is a reference to the story of Ondine and Hans, characters in Ondine, a 1938 play by Jean Giraudoux based on traditions tracing back through Undine a novella of 1811 to earlier European folk tales Ondine tells her future husband Hans, whom she had just met, that "I shall be the shoes of your feet I shall be the breath of your lungs" Ondine makes a pact with her uncle the King of the Ondines that if Hans ever deceives her he will die After their honeymoon, Hans is reunited with his first love Princess Bertha and Ondine leaves Hans only to be captured by a fisherman six months later On meeting Ondine again on the day of his wedding to Bertha, Hans tells her that "all the things my body once did by itself, it does now only by special order A single moment of inattention and I forget to breathe" Hans and Ondine kiss, after which he dies

See alsoedit

  • Our Curse, an Oscar-nominated 2013 short documentary film about a child with Ondine's curse


  1. ^ Jazeela Fayyaz, DO Zab Mosenifar, M, ed "Hypoventilation Syndromes" Medscape 
  2. ^ "Congenital central hypoventilation syndrome" Genetics Home Reference US National Library of Medicine Retrieved 5 June 2015 
  3. ^ a b Congenital Central Hypoventilation Syndrome at eMedicine
  4. ^ Windisch W, Hennings E, Storre J, Matthys H, Sorichter S 2004 "Long-term survival of a patient with congenital central hypoventilation syndrome despite the lack of continuous ventilatory support" Respiration 71 2: 195–8 doi:101159/000076685 PMID 15031579 
  5. ^ "Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series" Journal of Medical Case Reports Biomed Central April 26, 2013 doi:101186/1752-1947-7-117 
  6. ^ Lovell BL, Bullock RE, Anderson KN March 2010 "An unusual presentation of congenital central hypoventilation syndrome Ondine's Curse" Emerg Med J 27 3: 237–8 doi:101136/emj2009072215 PMID 20304901 
  7. ^ a b Trang H, Dehan M, Beaufils F, Zaccaria I, Amiel J, Gaultier C 2005 "The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype" Chest 127 1: 72–9 doi:101378/chest127172 PMID 15653965 
  8. ^ "Primary alveolar hypoventilation: Ondine's curse" ADAM Medical Encyclopedia US National Library of Medicine September 17, 2010 
  9. ^ "CCHS Family Network" 
  10. ^ Long, K J; Allen, N October 1984 "Abnormal brain-stem auditory evoked potentials following Ondine's curse" Arch Neurol 41 10: 1109–10 doi:101001/archneur198404050210111028 PMID 6477223 
  11. ^ Longo, Dan L Harrison's principles of internal medicine 18th ed New York: McGraw-Hill ISBN 9780071748896 
  12. ^ Gaultier C; Amiel J; Dauger S; et al 2004 "Genetics and early disturbances of breathing control" Pediatr Res 55 5: 729–33 doi:101203/01PDR000011567778759C5 PMID 14739359 
  13. ^ Gaultier C, Trang H, Dauger S, Gallego J 2005 "Pediatric disorders with autonomic dysfunction: what role for PHOX2B" Pediatr Res 58 1: 1–6 doi:101203/01PDR000016675529277C4 PMID 15901893 
  14. ^ Todd ES, Weinberg SM, Berry-Kravis EM, et al 2006 "Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology" Pediatr Res 59 1: 39–45 doi:101203/01pdr0000191814733401d PMID 16327002 
  15. ^ "Gene secret of 'mythical curse'" BBC News 5 May 2003  The article misspells PHOX2B as "Thox2b"
  16. ^ Kincaid PK, Dietrich RB, Pais MJ 1994 "Pediatric case of the day Neurocristopathy Ondine-Hirschsprung syndrome" Radiographics : a review publication of the Radiological Society of North America, Inc 14 5: 1139–43 PMID 7991820 
  17. ^ Poceta, J S; Strandjord, T P; Badura, R J; Milstein, J M 1987 "Undine curse and neurocristopathy" Pediatr Neurol 3 6: 370–2 doi:101016/0887-89948790011-7 PMID 3508086 
  18. ^ http://abcnewsgocom/Health/Sleep/british-boy-ondines-curse-sleep-dying/storyid=11413861#TuFWtHrhcqN
  19. ^ Takeda, S; Fujii, Y; Kawahara, H; Nakahara, K; Matsuda H 1996 "Central alveolar hypoventilation syndrome Undine's curse with gastroesophageal reflux" Chest 110 3: 850–852 doi:101378/chest1103850 PMID 8797441 
  20. ^ Severinghaus JW; Mitchell, R A 1962 "Undine's curse — failure of respiratory center automaticity while awake" Clin Res 10: 122 

External linksedit

  • CCHS Family Network — Family, patient, and medical organization's website, advocating research and support for patients' and their families In the past, this organization has arranged four US-based conferences offering research, lectures, & projects to support patients' families from around the world

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