Shuman Lisa, Youmans Diane
St Joseph's Candler Medical Group, Pembroke, Georgia, USA.
Neonatal Netw. 2005 Jul-Aug;24(4):41-4. doi: 10.1891/0730-0832.24.4.41.
Hirschsprung's disease (HD), also known as congenital aganglionic megacolon, is a relatively common cause of congenital obstruction of the colon. Congenital central hypoventilation syndrome (CCHS), also known as Ondine's curse, is a rare condition involving failed autonomic respiration in the absence of cardiorespiratory disease resulting in inadequate alveolar ventilation. Both conditions typically present in the newborn period and belong to a group of disorders referred to as neurocristopathies. HD and CCHS most commonly exist as discrete entities, but the coexistence of them is now called Haddad syndrome. Although few documented cases of Haddad syndrome exist in the literature, the association of CCHS and HD suggests a common etiology involving neural crest development.
先天性巨结肠(HD),也称为先天性无神经节性巨结肠,是导致结肠先天性梗阻的相对常见原因。先天性中枢性低通气综合征(CCHS),也称为翁丁氏 curse,是一种罕见病症,在无心肺疾病的情况下自主呼吸功能衰竭,导致肺泡通气不足。这两种病症通常在新生儿期出现,属于一组被称为神经嵴病的疾病。HD和CCHS最常作为独立病症存在,但它们的共存现在被称为哈达德综合征。尽管文献中记录的哈达德综合征病例很少,但CCHS和HD的关联表明存在涉及神经嵴发育的共同病因。