Congenital central hypoventilation syndrome

被引：0
作者：
P. G. Samdani
Vinit Samdani
Mahesh Balsekar
Akhil Goel
机构：
[1] Sir J.J. Group of Hospitals,Department of Pediatrics
[2] Elizabeth Hospital,Fellow Cardiac Critical Care
[3] Breach Candy Hospital,undefined
[4] Grant Medical College and Sir J.J. Group of Hospitals,undefined
来源：
The Indian Journal of Pediatrics | 2007年 / 74卷
关键词：
Congenital central hypoventilation syndrome; Ondine syndrome; Central apnea; PHOX2B gene;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Congenital Central Hypoventilation Syndrome is a rare disorder of autonomic dysfunction where the body “forgets to breathe”. The primitive responses to hypoxia and hypercapnia are sluggish to absent. Since, it was first described in 1970, not much has been discovered about its etiology and pathophysiology except its relationship with PHOX2B gene mutations and associations with disorders of neural crest origin like Hirschprung’s Disease. Here, we describe such a case where the diagnosis of anything other than CCHS seems unlikely.
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页码：953 / 955
页数：2
相关论文
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