先天性巨结肠和肛门直肠畸形——一种不常见的关联。

Hirschsprung disease and anorectal malformations - An uncommon association.

机构信息

International Center for Colorectal and Urogenital Care, Children's Hospital Colorado, Aurora, CO, USA.

出版信息

J Pediatr Surg. 2021 Mar;56(3):487-489. doi: 10.1016/j.jpedsurg.2020.05.016. Epub 2020 May 16.

DOI:10.1016/j.jpedsurg.2020.05.016

PMID:32507634

Abstract

BACKGROUND

The simultaneous occurrence of Hirschsprung disease (HD) and anorectal malformation (ARM) is extremely rare, with only a very limited amount of cases published in the literature. Constipation is a major problem in patients operated for ARM, and biopsies from the distal rectum in patients with ARM may not show ganglion cells owing to different reasons, leading to a false positive diagnosis of HD. A pull-through procedure for HD after previous anorectoplasty for ARM always leads to fecal incontinence. The aim of the present study was to assess the incidence of simultaneous diagnoses of ARM and HD in a single large cohort of ARM patients and to demonstrate that biopsies from the anal canal, which are negative for ganglion cells, may mislead to a diagnosis of HD.

MATERIALS AND METHODS

A retrospective review of our database from 1980 to 2018 identified 164 patients with HD and 2397 patients with ARM. Four patients suffered from both HD and ARM.

RESULTS

The incidence of HD in ARM patients was 4/2397 = 0.17%, and the incidence of ARM in HD patients was 4/164 = 2.4%.

CONCLUSION

Our results strongly suggest that the association of ARM and HD is less common than previously reported.

TYPE OF STUDY

Therapeutic LEVEL OF EVIDENCE: IV.

摘要

背景

先天性巨结肠（HD）和肛门直肠畸形（ARM）同时发生的情况极为罕见，文献中仅报道了极少数病例。ARM 手术后的患者主要存在便秘问题，且 ARM 患者的直肠远端活检可能因各种原因未显示神经节细胞，从而导致 HD 的假阳性诊断。在先前的 ARM 肛门直肠成形术后进行 HD 经肛门拖出术总是会导致大便失禁。本研究旨在评估单一 ARM 患者队列中同时诊断 ARM 和 HD 的发生率，并证明肛门活检未见神经节细胞可能会误诊为 HD。