Unpublished ArticlesAssociation of Hirschsprung's disease with anorectal malformations: the early alarming signs for diagnosis and comorbidity related to this association
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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Cited by (8)
Hirschsprung disease and imperforate anus without fistula in a 5-year-old boy with Trisomy 21
2021, Journal of Pediatric Surgery Case ReportsCitation Excerpt :Hirschsprung disease (HD) and anorectal malformations (ARM) occur in approximately 1 in 5000 live births [1]. Trisomy 21 carries a well-known association with both HD (2–16%) [2,3] and ARM (2%) [4], but their co-existence in a single patient is exceedingly rare [5–13]. When this does occur, there have been associations reported with other syndromes, such as Currarino Triad (26%), Trisomy 21 (19%), Cat-Eye syndrome (9.5%), and Pallister-Hall syndrome (4.8%) [5].
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