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

[1] Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
Amiel, J
Laudier, B
Attié-Bitach, T
Trang, H
de Pontual, L
Gener, B
Trochet, D
Etchevers, H
Ray, P
Simonneau, M
Vekemans, M
Munnich, A
Gaultier, C
Lyonnet, S
[J]. NATURE GENETICS, 2003, 33 (04) : 459 - 461
[2] BERRYKRAVIS EM, 2006, AM J RESP CRIT CARE
[3] Chen Maida Lynn, 2004, Paediatr Respir Rev, V5, P182, DOI 10.1016/j.prrv.2004.04.009
[4] Peripheral chemoreceptors in congenital central hypoventilation syndrome
Cutz, E
Ma, TKF
Perrin, DG
Moore, AM
Becker, LE
[J]. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 1997, 155 (01) : 358 - 363
[5] Abnormal esophageal motility in children with congenital central hypoventilation syndrome
Faure, C
Viarme, F
Cargill, G
Navarro, J
Gaultier, C
Trang, H
[J]. GASTROENTEROLOGY, 2002, 122 (05) : 1258 - 1263
[6] PERIPHERAL CHEMORECEPTOR FUNCTION IN CHILDREN WITH THE CONGENITAL CENTRAL HYPOVENTILATION SYNDROME
GOZAL, D
MARCUS, CL
SHOSEYOV, D
KEENS, TG
[J]. JOURNAL OF APPLIED PHYSIOLOGY, 1993, 74 (01) : 379 - 387
[7] Gozal D, 1998, PEDIATR PULM, V26, P273
[8] HUNT CE, 1979, AM REV RESPIR DIS, V119, P263
[9] DOXAPRAM HYDROCHLORIDE - RESPIRATORY STIMULANT FOR PATIENTS WITH PRIMARY ALVEOLAR HYPOVENTILATION
LUGLIANI, R
WHIPP, BJ
WASSERMAN, K
[J]. CHEST, 1979, 76 (04) : 414 - 419
[10] MARCUS CL, 1991, PEDIATRICS, V88, P993

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