Congenital central hypoventilation syndrome

被引：6

作者：

Samdani, P. G. ^{[1
]}

Samdani, Vinit ^{[2
]}

Balsekar, Mahesh ^{[3
]}

Goel, Akhil ^{[4
]}

机构：

[1] Sir JJ Grp Hosp, Dept Pediat, Bombay, Maharashtra, India

[2] Elizabeth Hosp, Bombay, Maharashtra, India

[3] Breach Candy Hosp, Bombay, Maharashtra, India

[4] Grant Med Coll, Bombay, Maharashtra, India

来源：

INDIAN JOURNAL OF PEDIATRICS | 2007年 / 74卷 / 10期

关键词：

congenital central hypoventilation syndrome; Ondine syndrome; central apnea; PHOX2B gene;

D O I：

10.1007/s12098-007-0177-9

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

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.

引用

页码：953 / 955

页数：3

共 20 条

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