Department of Pediatric Surgery, Giannina Gaslini Institute, Genoa, Italy.
Am J Med Genet A. 2011 Aug;155A(8):1798-802. doi: 10.1002/ajmg.a.34119. Epub 2011 Jul 7.
Chronic intestinal pseudo-obstruction (CIPO) can occur as a consequence of neuropathies including diffuse Intestinal Neuronal Dysplasia (IND), a relatively rare enteric nervous system (ENS) abnormality. Although various authors reported of diffuse IND associated either with intestinal malrotation or megacystis, the co-existence of these three entities in the same patient has never been described before. The aim of this paper is to report for the first time in literature a series of patient with such association, focusing on one who carries a de novo duplication of chromosome 12, suggesting a new syndromic association (megacolon, megacystis, malrotation).
慢性肠道假性梗阻 (CIPO) 可继发于神经病变，包括弥漫性肠神经元发育不良 (IND)，这是一种相对罕见的肠神经系统 (ENS) 异常。尽管有多位作者报道过弥漫性 IND 与肠旋转不良或巨膀胱相关，但在同一患者中同时存在这三种情况的情况以前从未描述过。本文的目的是首次在文献中报道一系列此类关联的患者，重点介绍其中一位患者携带 12 号染色体的新生重复，提示一种新的综合征性关联（巨结肠、巨膀胱、肠旋转不良）。
