Keywords
intestinal duplication - Hirschsprung's disease - intestinal occlusion
New Insights and the Importance for a Pediatric Surgeon
When treating neonates, pediatric surgeons should always be alert to the possibility
of unusual combinations of pathologies with a similar clinical presentation, where
one condition may mask the other.
Introduction
Hirschsprung's disease (HD) is defined by the absence of enteric neurons in the distal
part of the bowel. Neonates with HD usually present with a distended abdomen, feeding
intolerance with bilious vomiting, and delayed passage of meconium. Failure to promptly
diagnose HD can result in death secondary to recurrent enterocolitis.[1]
[2] Although its etiology is still unknown, several gene defects have been discovered.[3]
Intestinal duplication (ID) is a rare congenital condition usually involving the small
intestine, located on the mesenteric side of the bowel, with which it may share blood
supply. Although it is symptomatic at birth in only 30% of cases, diagnosis is made
before 2 years of life in up to 70% of patients. Symptoms vary as ID can affect any
part of the gastrointestinal tract.[4] Many hypotheses have been made about its etiology, such as intrauterine hypoxia,
partial twinning, split notochord syndrome, and remnants of embryological diverticula.[5]
[6]
[7]
To date, no cases of intestinal obstructions simultaneously caused by both HD and
ID have been reported.[8]
[9] Our study presents a unique case, where appropriate diagnosis and treatment were
delayed due to the misleading presence of both ID and HD.
Case Report
A full-term male neonate born at our Institute by induced vaginal delivery presented
with bilious vomiting and abdominal distension starting from day 2 of life. X-ray
revealed substantial distension of the small bowel, and abdominal ultrasound showed
a simple cystic mass in the right hypochondrium (38 × 27 mm). Explorative laparotomy
found an occlusive duplication at the ileocecal junction ([Fig. 1A]). Since resection of the duplication was not possible, we performed exeresis of
the ileocecal region and end-to-end anastomosis ([Fig. 1B]). Gross pathology reaffirmed the diagnosis of ID and confirmed obstruction of the
intestinal lumen.
Fig. 1 (A) Occlusive duplication at the ileocecal junction. (B) Resected ileocecal region including intestinal duplication.
Postsurgical course was characterized by recurrent bilious vomiting, abdominal distension,
and constipation. At 1 month of life, due to exacerbation of his symptoms, the child
underwent explorative relaparotomy: anastomotic stenosis and fibrous bands were excluded
as the cause of occlusion. Instead, we found massive intestinal adherences, not apparently
due to the previous surgery, as they were generalized and not localized, and were
not causing bowel obstruction.
Despite a second surgical procedure, abdominal distension persisted, associated with
the absence of spontaneous evacuation and impaired weight gain. Since postsurgical
complications had already been excluded at the second laparotomy, we started suspecting
HD. Another explorative laparotomy was planned a month later: ileostomy was performed
along with multiple intestinal biopsies, which confirmed the diagnosis of short-segment
HD (length of aganglionic bowel of ∼10 cm from the anal verge).
At nine months of life, the child successfully underwent transanal endorectal pull-through
(De La Torre). Intestinal recanalization followed 3 months later. At 1 year follow-up,
the child had normal bowel function, and no more episodes of abdominal distension
have occurred.
Discussion
Only two cases of co-occurring HD and ID are reported in the literature in English.
The first, published in 2012, is that of a 35-year-old woman with a medical history
of HD treated with Soave procedure at 29 months of life presenting with an adenocarcinoma
originating from a rectal duplication.[8] The second, published in 2017, is that of a full-term female newborn in whom an
ileal duplication was accidentally found when she underwent exploratory laparotomy
to perform multiple full-thickness biopsies for HD.[9] We also found one case of association of cystic bowel duplication and intestinal
neuronal dysplasia described in 1983.[10] Our case is the first in which co-occurring ID and HD have constituted a clinical
challenge rather than an incidental finding since they both caused clinical bowel
obstruction. The presence of one masked the presence of the other, delaying diagnosis
and immediate appropriate therapy. In hindsight, the massive presence of adhesions
encountered during the second laparotomy could have prompted suspicion of HD, as adhesions
form secondary to Hirschsprung-associated enterocolitis. As far as etiopathogenesis
is concerned, both pathologies have unclear causal factors, and many hypotheses have
been proposed. One advanced for both conditions is intrauterine hypoxia, postulated
in the pathogenesis of ID,[5]
[6]
[7]
[8]
[9]
[10]
[11] but also suggested as an interfering factor in ganglion cell migration in HD.[10] Although it is highly possible that the association of HD and ID is coincidental,
it might be speculated that the coexistence of HD and ID is secondary to ischemic
damage that occurs during embryogenesis and that interferes with both intestinal canalization
and neural crest migration.
Conclusion
The coexistence of ID and HD is extremely rare, and only two cases have been described
in the English literature. As shown in our report, the presence of HD and ID together
can mislead the diagnostic work-up and delay appropriate therapy.
