A 31-year-old member asked:
My daughter has cchs- her dr seems puzzled when we explain that her o2 sats run low, while still maintaining an appropriate co2 level. the best they have come up with is malacia- she shows no signs of pulmonary hypertension. what else should we have rul
2 doctor answers • 4 doctors weighed in
Dr. Mehul SHETHanswered
Pediatrics 20 years experience
A few things: As you know, cchs is a rare condition and is not fully understood. There are a number of diseases that are associated with and syndromic with cchs. An example is hirschprungs disease, which seems to share a link with an underlying genetic defect that also can cause cchs. The best way to evaluate is a pulmonoligist affiliated with a children's hospital that has a wide range of subspecialities.
5.7k viewsReviewed >2 years ago
Dr. Charles Burgeranswered
Internal Medicine - Pulmonary Critical Care 38 years experience
CCHS: I presume you are referring to congenital central hypoventilation syndrome. Cchs is a multisystem disorder of the central nervous system where, most dramatically, the automatic control of breathing is absent or impaired. A cchs patient’s respiratory response to low blood oxygen saturation (hypoxia) or to co2 retention (hypercapnia) is abnormal. I suggest you seek out a specialist in cchs.
5.3k viewsAnswered >2 years ago
Last updated Apr 24, 2015
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