Colorectal Problems in Children: From Diagnosis to Treatment and Novelties

Background: Hirschsprung’s disease (HD) is a congenital malformation of the enteric nervous system clinically manifested by intestinal obstruction in the neonatal period or severe constipation in childhood. Several surveys on HD have been conducted to evaluate experiences in its management around the world. For the first time in Brazil, we analyze and report the management patterns of HD among pediatric surgeons in Brazil. Methods: A validated questionnaire was disseminated in print at the Congress of Pediatric Surgery in São Paulo-Brazil, and an online version was sent to all the active members of the Brazilian and Paulista Institute of Pediatric Surgery. Results: In total, 361 pediatric surgeons answered the survey. Of these, 329 completed all questions (response rate: 91%). Most Brazilian services treat fewer than 10 cases of HD annually. The preferred diagnostic method was rectal biopsy. For newborns (NBs) and infants, open biopsy was the most commonly used technique. For NBs with HD clinically stable 50% of specialists chose immediate surgery. In NBs and infants with classic HD, the Soave technique (69%) is the most common surgical intervention, and the transanal route (80%) is the preferred surgical approach. In children over 3 years of age with classic HD, the most-used technique is the Duhamel method (54%), with the open approach being the most common (52%). Conclusions: Our study in Brazil found that HD patient management aligns with scientific evidence and international guidelines. Full article

Introduction: Hirschsprung disease (HD) manifests as a developmental anomaly affecting the enteric nervous system, where there is an absence of ganglion cells in the lower part of the intestine. This deficiency leads to functional blockages within the intestines. HD is usually confirmed or ruled out through rectal biopsy. The identification of any ganglion cells through hematoxylin and eosin (H&E) staining rules out HD. If ganglion cells are absent, further staining with acetylcholine-esterase (AChE) histochemistry or calretinin immunohistochemistry (IHC) forms part of the standard procedure for determining a diagnosis of HD. In 2017, our Institute of Pathology at University Hospital of Heidelberg changed our HD diagnostic procedure from AChE histochemistry to calretinin IHC. In this paper, we report the impact of the diagnostic procedure change on surgical HD therapy procedures and on the clinical outcome of HD patients. Methods: We conducted a retrospective review of the diagnostic procedures, clinical data, and postoperative progress of 29 patients who underwent surgical treatment for HD in the Department of Pediatric Surgery, University of Heidelberg, between 2012 and 2021. The patient sample was divided into two groups, each covering a treatment period of 5 years. In 2012–2016, HD diagnosis was performed exclusively using AChE histochemistry (AChE group, n = 17). In 2017–2021, HD diagnosis was performed exclusively using calretinin IHC (CR group, n = 12). Results: There were no significant differences between the groups in sex distribution, weeks of gestation, birth weight, length of the aganglionic segment, or associated congenital anomalies. Almost half of the children in the AChE group, twice as many as in the CR group, required an enterostomy before transanal endorectal pull-through procedure (TERPT). In the AChE group, 4 patients (23.5%) required repeat bowel sampling to confirm the diagnosis. Compared to the AChE group, more children in the CR group suffered from constipation post TERPT. Discussion: Elevated AChE expression is linked to hypertrophied extrinsic cholinergic nerve fibers in the aganglionic segment in the majority of patients with HD. The manifestation of increased AChE expression develops over time. Therefore, in neonatal patients with HD, especially those in the first 3 weeks of life, an increase in AChE reaction is not detected. Calretinin IHC reliably identifies the presence or absence of ganglion cells and offers multiple benefits over AChE histochemistry. These include the ability to perform the test on paraffin-embedded tissue sections, a straightforward staining pattern, a clear binary interpretation (negative or positive), cost-effectiveness, and utility regardless of patient age. Conclusions: The ability of calretinin IHC to diagnose HD early and time-independently prevented repeated intestinal biopsies in our patient population and allowed us to perform a one-stage TERPT in the first months of life, reducing the number of enterostomies and restoring colonic continuity early. Patients undergoing transanal pull-through under the age of 3 months require a close follow-up to detect cases with bowel movement problems. Full article