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伴有长节段无神经节细胞症的腹胀表现的 Haddad 综合征。

Haddad syndrome presenting with abdominal distension associated with long-segment aganglionosis.

机构信息

Department of Radiology, St. Mary's Hospital, The Catholic University of Korea, Seoul, Korea.

出版信息

Clin Imaging. 2012 Mar-Apr;36(2):149-52. doi: 10.1016/j.clinimag.2011.08.014.

Abstract

Haddad syndrome is a form of neurocristopathy characterized by a combination of congenital central hypoventilation syndrome and Hirschsprung disease (HD). Although Haddad syndrome is extremely rare, awareness of the combination of long-segment HD in Haddad syndrome as well as radiographic manifestations may help to ensure a timely diagnosis as well as to facilitate optimal treatment of this unusual condition. We report a case of Haddad syndrome with long-segment, intestinal aganglionosis in a newborn infant. This report emphasizes the features of HD in children with Haddad syndrome and suggests that specific attention be given to its interpretation on plain radiographs.

摘要

哈达德综合征是一种神经嵴病变,其特征是先天性中枢性通气不足综合征和先天性巨结肠(HD)的组合。尽管哈达德综合征极为罕见,但对哈达德综合征中长段 HD 的组合以及影像学表现的认识,可能有助于确保及时诊断,并有助于优化对这种不寻常情况的治疗。我们报告了一例新生儿哈达德综合征伴长段肠无神经节细胞症。本报告强调了哈达德综合征患儿中 HD 的特征,并建议在平片上对其进行专门解读。

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