Moore S W
Division of Paediatric Surgery, University of Stellenbosch, Tygerberg, South Africa.
Pediatr Surg Int. 2011 Apr;27(4):347-52. doi: 10.1007/s00383-010-2807-y. Epub 2010 Dec 5.
A link between factors governing brain development and the development of the ENS is not surprising as both processes are largely controlled by the same or similar neural growth factors which are expressed at more or less in the same spatio-temporal time frame. Hirschsprung's disease (HSCR) occurs as an isolated phenotype in 70% of cases but is associated with other congenital abnormalities and syndromic phenotypes in the remainder, with CNS anomalies making up 6.78%. These associations may be underestimated and are possibly pathogenetically linked to genetic associations and probable gene-gene interaction. In this review we explore known syndromes and other ENS associations of HSCR, looking at possible pathogenetic associations. We point out that borderline cognitive abilities, attention-deficit disorders and possible epileptic seizures in Hirschsprung's patients should be fully investigated. We recognise that this group of patients remain a challenge from a clinical and functional management point of view, and suggest possible management guidelines.
大脑发育调控因素与肠神经系统发育之间存在联系并不奇怪，因为这两个过程在很大程度上都由相同或相似的神经生长因子控制，这些因子在大致相同的时空框架内表达。70%的先天性巨结肠症（HSCR）病例表现为孤立的表型，但其余病例则与其他先天性异常和综合征表型相关，其中中枢神经系统异常占6.78%。这些关联可能被低估了，并且可能在发病机制上与基因关联以及可能的基因-基因相互作用有关。在本综述中，我们探讨了已知的综合征以及HSCR的其他肠神经系统关联，研究可能的发病机制关联。我们指出，对于先天性巨结肠症患者的边缘认知能力、注意力缺陷障碍和可能的癫痫发作应进行全面调查。我们认识到，从临床和功能管理的角度来看，这组患者仍然是一个挑战，并提出了可能的管理指南。
