Talk:Central hypoventilation syndrome

Could inner ear damage also be one of the causes?

A fairly recently discovered function of the hair cells is to transmit information concerning carbon dioxide levels in the blood and relaying this information to the brain to drive normal breathing. A loss of these chemosensitive hair cells can cause death. https://www.audiologyonline.com/releases/ears-may-hold-answers-to-4038

Studies in mice have proven this. https://pubmed.ncbi.nlm.nih.gov/21130842/ — Preceding unsigned comment added by 31.124.246.188 (talk) 18:39, 29 August 2022 (UTC)

Untitled

I removed the link to Ondine (play) from see also. I think it is appropriate on Ondine (mythology), but not here, this page is about a medical condition. Both are related to Ondine (mythology) but not really to eachother. --WS 23:31, 30 November 2005 (UTC)

I agree that circumlocuted "see alsos" may be interesting, but are not helpful vis a vis the content of this page. The interested reader will be able to find it through the mythology article. JFW | T@lk 13:04, 1 December 2005 (UTC)

Naming

Should this article be moved to Congenital Central Hypoventilation Syndrome? rarediseases.about.com suggests that it should, though I wouldn't call that authoritative. Perhaps Hypoventilation syndrome might be more correct as it covers a broader ranger (see this article as eMedicine. violet/riga (t) 20:16, 22 January 2006 (UTC)

Please never capitalise disease entities if not proper names. Only journalists do that :-). Anyway, a googlefight will be helpful here. JFW | T@lk 21:50, 22 January 2006 (UTC)

Yeah I'm sorry, that was the product of a lazy copy/paste! violet/riga (t) 21:55, 22 January 2006 (UTC)

This page is almost exclusively about congenital central hypoventilation syndrome, and is recognised and preferred to be known by patients and families as either the long form, or shortened to CCHS. Could this page therefore be moved to a 'CCHS' page, with Ondine's curse redirecting to it? 82.132.223.187 (talk) 12:37, 12 October 2015 (UTC)

I have moved the article for the above reasons. 142,000 Google hits for "Congenital central hypoventilation syndrome" and 36,000 for "Ondine's curse." Additionally, it's not a flattering title either. Cburnett (talk) 15:13, 3 June 2016 (UTC)

paired-like homeobox 2b

??? Jclerman 21:31, 20 August 2006 (UTC)

It's the 'PHOX2B' that was referenced in the article. Some more context is available at Pax genes. --Arcadian 22:00, 20 August 2006 (UTC)

Clarification

Most people with congenital Ondine's curse do not survive infancy, though they can be kept alive with a ventilator. This seems contradictory - if you can be kept alive, you're surviving. This could use some clarification as to what is meant.--RLent 19:21, 20 June 2007 (UTC)

"Prognosis"-accuracy?

other web sources indicate the condition is highly survivable, and that most people will live productive and near-normal lives. see, e.g. the cchs family network website at www.cchsnetwork.org, among others. this is the only place i have seen so far that suggests a high mortality rate in infancy.208.27.203.128 22:59, 20 June 2007 (UTC)

As someone with CCHS, the problem isn't surviving CCHS after being diagnosed, but being diagnosed at all. It's usually mistaken for a lighter form of sleep apnea, which cause the patient to be not on the ventilator enough. However, there are a few cases out there of a lighter form of CCHS, with those not being diagnosed for years, even decades, and surviving without the vent. The CCHS Network website should be able to direct you to sources for this, but I don't have links or references handy at the moment. 134.68.177.128 17:22, 25 September 2007 (UTC)

Also known as?

Is CCHS the same as congenital central alveolar hypoventilation syndrome? While the ICD-9 code for "Ondine's curse" gets you 348.8 - condition of brain, CCAHS has it's own code - 327.25.--209.7.195.158 (talk) 18:08, 4 June 2008 (UTC)

Rolled back a single edit

I rolled back a single edit as it was not pertinent to the subject matter. DeusImperator (talk) 05:22, 10 July 2011 (UTC) The following text was added to the article which was subsequently removed.

---

GURGAON: Little Muaaz will celebrate his fourth birthday on Sunday. And doctors say this is nothing less than a miracle since he is one of the few people who is surviving with Ondine's Curse, medically-known as congenital central hypoventilation syndrome, where the boy literally "forgets" to breath once he falls asleep. Muaaz has to be put on ventilator every time he goes to sleep.

A tracheal pipe (inserted in the throat directly into the windpipe) supplies oxygen to his lungs. This is because, his respiratory centre (part of the brain which sends signal to the respiratory system) gets depressed when he goes to sleep. Muaaz's father, Dr Mohammad Ahmed, an orthopedic surgeon, said that in 2003, he and his wife had their first son, who died within hours of delivery due to undiagnosed conditions. "He (the first son) had difficulty in breathing and despite efforts, we could not save him. Then, we had a daughter in 2006 and Muaaz in July 2007. However, when Muaaz showed similar signs as our eldest child soon after birth, we did not waste a minute and immediately shifted him to the nursery in Sheetla Hospital," said Ahmed.

He added that according to known medical history, this disorder is found only in males. Muaaz survived the first two years of his life purely on ventilator. However, the huge costs compelled the family to make arrangements at home.

"Muaaz has 'died' close to seven times. He would suddenly stop breathing and turn blue. But then like a miracle, he returns to life," explained Dr Akhlak Ahmed, his grandfather and a senior orthopedic surgeon. Dr Akhlak added that Muaaz had a major operation when he was six months where half of his large intestine had to be cut and removed since it had rotted due to lack of functionality. "Since he has slower development of the brain, the neural signals were not reaching major portions of his large intestine. Every time before passing stool, his stomach would swell up because of indigestion. We had to finally operate him," said Akhlak.

However, being on continous medication since the day he was born, Muaaz has several complications. He has lost all his teeth and his immunity is very low. He also suffers from speech and hearing impairment and once he turns five, he is likely to get a pacemaker-like device for his lungs to keep them "operational" even when he goes off to sleep. "We don't take him out of the house and discourage people who have contracted any kind of visible infection near him," said Muaaz's grandmother.

Akhlak added that because both he and his son (Muaaz's father) are doctors, the boy has come so far. "There are less than 200 patients in the world -- who are surviving with this disorder," said Akhlak.

Long term prospects

I'm watching Great Ormond Street right now, where there's a little girl with this condition: her mother also has the condition and was previously treated by some of the same team! HTH HAND —Phil | Talk 21:35, 29 May 2012 (UTC)

Survival

CCHS is not uniformly lethal as is suggested in the opening. I have Lo-CCHS (Late onset) and I am very alive at age 65. I may be the eldest currently known to be alive, but I am. I have very long term hypoxic brain pathology and it was not discovered until three years ago by MRI. Because it has appeared so slowly my brain was able to work around it, for the most part. I suffer from 24/7 central "apnea" of the type in CCHS which means it completely disappears during REM sleep. The term "Ondine's Curse" is not at all appropriate to CCHS and is not used to identify the disorder except by the poorly informed. True Ondine's Curse does exist as a medical syndrome and is normally uniformly lethal when it appears, usually due to some form of brain stem damage such as by a stroke. Using this name to identify this syndrome is incorrect and potentially misleading.

In large part this is because the type of breathing that occurs in CCHS is not a form of apnea and not a total failure to breath, it is hypo-ventilation. Breathing still occurs but is at a minute volume level much too low to support proper oxygenation of the blood. I still breath during the hypo-ventilation episodes which can last an hour and longer but the minute volume I intake can be as low as one tenth of normal. My SpO2 has been measured as low as 73 during an episode, three years ago. I was able to find a way to treat my CCHS which has worked very well. As soon as I discovered what was happening (with the help of doctors) I began using very low level oxygen when sleeping, about 1 litre per minute. I am able to detect my breathing failures while awake so I only need it when sleeping. Low level oxygen raises the level of CO2 in the brain only and causes the faulty brain stem sensors to properly signal breathing cycles. Amazingly, it has been recently determined that I no longer need oxygen. It seems that the brain stem sensors have been somehow recalibrated and I now have few enough periods of hypo-ventilation that my SpO2 never drops below 90 or so. I no longer need to use oxygen and have been off it for two months. It remains to be seen if the recalibration will be permanent. Eldest 1 (talk) 00:32, 1 May 2015 (UTC)

Thanks Muhammidali89898907 (talk) 08:55, 22 December 2019 (UTC)

Rarity

The lead section states that "Congenital cases are very rare", but the causes section contradicts this, saying "CHS is exhibited typically as a congenital disorder". Which is correct? Technically they can both be true, but only if non-congenital cases are also very rare. Hairy Dude (talk) 18:43, 12 November 2018 (UTC)

Article photo

Can anyone think of another photo for this article besides the one of Ondine? I haven't been able to think of one yet. However, it's my understanding that CCHS is not referred to as "Ondine's curse" by folks who have this disease or by folks who treat it. (For example, I don't think the webpage for the CCHS Network, the major advocacy organization for CCHS, mentions Ondine at all.) One of my family members died of CCHS, and I feel the emphasis given to the Ondine reference (by featuring this photo at the top of the article) is disrespectful and frankly somewhat creepy. Thanks! BJ1573 (talk) 04:28, 3 December 2019 (UTC)

@BJ1573: The CCHS Overview states that "In recent years this term has been disavowed by the CCHS Community, in favor of CCHS"; their reason being that "[most] individuals with CCHS do not stop breathing altogether, but do not breathe deeply enough to support body functions" [my emphases]. IMO keep the image but make clear that the name is a misnomer rmacd (talk) 01:41, 16 May 2020 (UTC)