Hirschsprung's disease in Arab siblings with Bardet-Biedl syndrome

被引：3

作者：

Cherian, Mathew P. ^{[1
]}

Al-Sanna'a, Nouriya A. ^{[1
]}

Al-Mulhim, Sa'ad I. ^{[1
]}

机构：

[1] Saudi Aramco Med Serv Org, Ras Tanura 31311, Saudi Arabia

来源：

JOURNAL OF PEDIATRIC SURGERY | 2008年 / 43卷 / 06期

关键词：

Hirschsprung's disease; Bardet-Biedl syndrome; aganglionosis; autosomal recessive;

D O I：

10.1016/j.jpedsurg.2008.02.013

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Hirschsprung's disease (HSCR) is a developmental disorder characterized by the absence of enteric neurons in distal segments of the gut. Though HSCR is isolated (nonsyndromic) in most cases, its association with chromosomal aberrations, some congenital anomalies, and a few syndromes has been documented. We report the association of HSCR with Bardet-Biedl syndrome in 2 siblings born to consanguineous Saudi Arabian parents. Both cases were diagnosed during the neonatal period. The first patient had the severe variety of the disease with aganglionosis involving the entire colon and terminal ileum. He died of postoperative complications. The second child had a limited short segment variety of HSCR. For social reasons, the surgical intervention was done only at 5 years of age with no documented complications. (C) 2008 Elsevier Inc. All rights reserved.

引用

页码：1213 / 1217

页数：5

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