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新生儿哈达德综合征病例报告:先天性中枢性低通气综合征合并先天性巨结肠症。

Case report of Haddad syndrome in a newborn: congenital central hypoventilation syndrome and Hirschsprung's disease.

作者信息

Dejhalla M, Parton P, Golombek S G

机构信息

The Regional Neonatal Center, Maria Fareri Children's Hospital at Westchester Medical Center, Department of Pediatrics, New York Medical College, Valhalla, NY 10595, USA.

出版信息

J Perinatol. 2006 Apr;26(4):259-60. doi: 10.1038/sj.jp.7211480.

Abstract

Congenital central hypoventilation syndrome (CCHS) is a rare disorder characterized by failure of automatic control of breathing. Diagnosis is made by exclusion of other causes of hypoventilation. Genetic etiology is strongly suspected. Other autonomic nervous system dysfunctions, tumors of neural crest origin and Hirschsprung's disease are often found in affected children. Association with Hirschsprung's disease is known as Haddad syndrome. We present a newborn with respiratory distress since birth and Hirschprung's disease subsequently diagnosed with Haddad syndrome.

摘要

先天性中枢性低通气综合征(CCHS)是一种罕见的疾病,其特征为呼吸自动控制功能衰竭。通过排除其他低通气原因来进行诊断。强烈怀疑存在遗传病因。在患病儿童中常发现其他自主神经系统功能障碍、神经嵴起源的肿瘤和先天性巨结肠。与先天性巨结肠相关的情况被称为哈达德综合征。我们报告一例自出生即有呼吸窘迫且随后被诊断为哈达德综合征合并先天性巨结肠的新生儿。

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