Elsevier

Journal of Pediatric Surgery

Volume 55, Issue 9, September 2020, Pages 1981-1983
Journal of Pediatric Surgery

Unpublished Articles
Association of Hirschsprung's disease with anorectal malformations: the early alarming signs for diagnosis and comorbidity related to this association

https://doi.org/10.1016/j.jpedsurg.2014.04.007Get rights and content

Abstract

Background and aim

The association of Hirschsprung's disease (HD) and anorectal malformation (ARM) is rare. The aim of this study is to highlight the frequency of this rare association and comorbidity that may be related to this association.

Patients and methods

Eleven cases out of four hundred forty six cases (2.5%) with ARM found to have HD association presented to Assiut University Children Hospital. All cases were diagnosed by complete clinical, radiological assessment and histopathological examination before correction. The evaluating parameters for those patients were the early warning signs for diagnosis, any unnecessary procedures done and any associated morbidity related to misdiagnosis of this association.

Results

Age at presentation of these eleven cases ranged from 2 days to 10 years. The diagnosis started early during neonatal period only in four cases either by change of bowel caliber or nonfunctioning stoma. In the remaining seven cases the diagnosis was delayed because of unsuspected association. Fecal fistula after closure of stoma and wound dehiscence followed by incisional hernia is evident associated comorbidity.

Conclusions

The incidence of HD in ARM population seems to be more common than its incidence in the general pediatric population. Caliber change of the bowel during the first operation or nonfunctioning stoma is early alarming sign for diagnoses of such association and should direct the attention for stomal biopsy.

Section snippets

Background

Hirschsprung's disease (HD) and anorectal malformation (ARM) are reported as a rare association [1], [2], [3], [4]. Most of the reported cases were published as case reports. HD usually presents early during neonatal or infancy period. However if HD is associated with ARM, this presentation may be delayed because of misinterpreted symptoms which may lead to morbidity and even mortality [5], [6]. The aim of this study is to detect the frequency of this association and the warning signs for early

Patients and methods

A retrospective study was conducted at Assiut University Children Hospital from December 2002 to December 2013. The study included all cases with anorectal malformation (ARM) proved to have Hirschsprung's disease (HD) association. A full clinical, radiological and histopathological examination was done to all patients to reach complete diagnosis. All histopathological specimens were formalin fixed, routinely processed at Pathology Laboratory, Assiut University Hospital. Sections were stained by

Results

Out of 446 cases with ARM only eleven (2.5%), 9 males and 2 female were diagnosed to have HD association. Their age at presentation ranged from 2 days to 10 years. Three cases had low ARM and eight cases had high ARM (four of them with rectourethral fistula) (Table 1). The diagnosis was suspected during neonatal period in 4 cases (1, 5, 7 and 9) at the age of 4, 5, 3 and 2 days where; caliber change of bowel was evident in the rectosigmoid junction in one case (case 1); so proximal leveling

Discussion

Both HD and ARM are among the more frequent congenital anomalies encountered in pediatric surgery with incidence of 1: 5000 live births [8], [9], [10]. The association of both diseases is very rare with reported incidence to be 2.3%–3.4% [1], [6], [11]. In this series incidence of HD association with ARM cases was 2.5%. This incidence may reflect that the prevalence of HD among ARM population is higher than it is in general pediatric population.

The most common syndrome encountered with this

Conclusions

Although the association of ARM and HD is rare; the incidence of HD among ARM cases seems to be higher than in general pediatric population. Nonfunctioning stoma or intraoperative caliber change of the bowel is early alarming signs to diagnose such association. Severe and progressive constipation after full correction of ARM without anal stricture should direct the attention for rectal biopsy.

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