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Wang XX, Doisy W, Goro S, Harichane S, Rousseau M, Bellaiche M, Jung C. Epidemiology and Surgical Management of Hirschsprung's Disease in France: A 12-Year Retrospective Analysis (2012-2023). Acta Paediatr 2025. [PMID: 40346996 DOI: 10.1111/apa.70127] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/27/2025] [Revised: 04/09/2025] [Accepted: 04/30/2025] [Indexed: 05/12/2025]
Abstract
AIM Hirschsprung's disease (HSCR) is a congenital disorder of the enteric nervous system, leading to functional intestinal obstruction in neonates and young children. This study aimed to assess the epidemiology and surgical management of HSCR in France over a 12-year period using nationwide data. METHODS We conducted a retrospective cohort study using the French National Hospital Discharge Database (PMSI), including patients aged 0 to 3 years diagnosed and surgically treated for HSCR between 2012 and 2023. RESULTS Among 1512 patients, the average incidence was 17.26 per 100 000 live births. Short-segment disease accounted for 70% of cases, and 78.6% were male. A progressive shift toward minimally invasive techniques was observed, with laparoscopic surgery increasing significantly. Mortality was low (0.3%). Long-segment disease was associated with higher reoperation rates and lower reoperation-free survival. CONCLUSION This study confirms the stable incidence of HSCR in France and highlights the increasing use of minimally invasive surgery. Regional disparities in care and the higher surgical burden in long-segment cases underline the need for ongoing surveillance, equitable access and improved follow-up strategies.
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Affiliation(s)
- Xavier Xu Wang
- Clinical Research Center, Centre Hospitalier Intercommunal de Créteil (CHIC), Créteil, France
| | - Wilguy Doisy
- Centre Hospitalier Intercommunal de Villeneuve-Saint-Georges, Villeneuve-Saint-Georges, France
| | - Seydou Goro
- Clinical Research Center, Centre Hospitalier Intercommunal de Créteil (CHIC), Créteil, France
| | - Sadek Harichane
- Clinical Research Center, Centre Hospitalier Intercommunal de Créteil (CHIC), Créteil, France
| | | | - Marc Bellaiche
- Department of Pediatric Gastroenterology, Robert Debré Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France
| | - Camille Jung
- Clinical Research Center, Centre Hospitalier Intercommunal de Créteil (CHIC), Créteil, France
- Department of Pediatrics, CHIC, Créteil, France
- University of Paris-Est Créteil, Créteil, France
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Hawez T, Evertsson M, Erlöv T, Hagelsteen K, Tofft L, Jansson T, Cinthio M, Granéli C, Stenström P. The use of ultra-high frequency ultrasound in identifying aganglionosis in Hirschsprung's disease. Sci Rep 2025; 15:15124. [PMID: 40301537 PMCID: PMC12041227 DOI: 10.1038/s41598-025-99897-7] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/16/2024] [Accepted: 04/23/2025] [Indexed: 05/01/2025] Open
Abstract
To make surgery more precise and to shorten anesthesia-times for children undergoing surgery for Hirschsprung's disease, ultra-high frequency ultrasound (UHFUS) has been suggested to replace peroperative biopsy. The study's aim was to determine quantitatively whether aganglionic and ganglionic bowel segments could be distinguished by UHFUS. Bowel specimens of 23 children operated on for rectosigmoid Hirschsprung's disease were examined ex vivo using the Vevo MD UHF70 (MHz) probe delivering 30 μm-resolution. In ganglionic versus aganglionic bowel in UHFUS images, patients serving their own controls, the thickness of the muscularis interna was thicker (0.540 vs. 0.322 mm; p < 0.001; CI 0.148-0.289), the ratio of thickness of muscularis interna/muscularis externa was greater (1.194 vs. 0.846; p = 0.011; CI 0.085-0.596), and the submucosa's echogenicity was lower (100.0 vs. 115.3; p < 0.001; CI - 21.8 to - 8.7). The results indicate that delineation between aganglionosis and ganglionosis can be undertaken by UHFUS, underlining important research for precise diagnostics with UHFUS in vivo.
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Affiliation(s)
- Tebin Hawez
- Department of Clinical Sciences Lund/Pediatrics, Lund University, Lund, Sweden.
- Department of Pediatric Surgery, Children's Hospital, Skåne University Hospital, Lund, Sweden.
| | - Maria Evertsson
- Department of Clinical Sciences Lund/Biomedical Engineering, Lund University, Lund, Sweden
| | - Tobias Erlöv
- Department of Biomedical Engineering, The Faculty of Engineering, Lund University, Lund, Sweden
| | - Kristine Hagelsteen
- Department of Clinical Sciences Lund/Pediatrics, Lund University, Lund, Sweden
- Department of Pediatric Surgery, Children's Hospital, Skåne University Hospital, Lund, Sweden
| | - Louise Tofft
- Department of Clinical Sciences Lund/Pediatrics, Lund University, Lund, Sweden
- Department of Pediatric Surgery, Children's Hospital, Skåne University Hospital, Lund, Sweden
| | - Tomas Jansson
- Department of Clinical Sciences Lund/Biomedical Engineering, Lund University, Lund, Sweden
- Digitalisering IT/MT, Skåne Regional Council, Lund, Sweden
| | - Magnus Cinthio
- Department of Biomedical Engineering, The Faculty of Engineering, Lund University, Lund, Sweden
| | - Christina Granéli
- Department of Clinical Sciences Lund/Pediatrics, Lund University, Lund, Sweden
- Department of Pediatric Surgery, Children's Hospital, Skåne University Hospital, Lund, Sweden
| | - Pernilla Stenström
- Department of Clinical Sciences Lund/Pediatrics, Lund University, Lund, Sweden
- Department of Pediatric Surgery, Children's Hospital, Skåne University Hospital, Lund, Sweden
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Marchetto C, Bracalente G, Midrio P. Hirschsprung Disease with Prenatal Signs: Case Report and Review of the Literature. Fetal Pediatr Pathol 2025:1-8. [PMID: 40114388 DOI: 10.1080/15513815.2025.2476459] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/23/2024] [Revised: 02/15/2025] [Accepted: 02/27/2025] [Indexed: 03/22/2025]
Abstract
Introduction: Hirschsprung's disease (HD) is diagnosed postnatally, mainly by means of a rectal biopsy. During pregnancy a few signs have been scattered reported that, in retrospect, where suggestive for HD. The aim of the study was to provide a review of the literature on prenatal signs, with a new case. Methods: A systematic and manual search of the literature using the keywords "prenatal diagnosis, meconium peritonitis, Hirschsprung disease" was conducted on PUBMED, Scopus, and SCIE (Web of Science). Results: Following the PRISMA guidelines, 8 articles were retrieved that describe a total of 11 cases of prenatal signs suggestive of HD. The case of a fetus with meconium peritonitis and hereditary trigonocephaly is reported. Conclusion: The literature is very scanty on prenatal signs or symptoms suggestive for HD. The association of HD and craniostenosis has been previously reported, but the present case is unique due to the concurrent presence of meconium peritonitis and hereditary trigonocephaly.
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Affiliation(s)
- C Marchetto
- Pediatric Surgery, Cà Foncello Hospital, Treviso, Italy
- Pediatric Surgery, University Hospital of Padua, Padua, Italy
| | - G Bracalente
- Pediatric Surgery, Cà Foncello Hospital, Treviso, Italy
| | - P Midrio
- Pediatric Surgery, Cà Foncello Hospital, Treviso, Italy
- Pediatric Surgery, University Hospital of Padua, Padua, Italy
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Labib H, Shirinskiy IJ, Roelofs JJTH, van der Voorn JP, van Schuppen J, Oosterlaan J, van Heurn LWE, Benninga MA, Derikx JPM. Diagnosing Hirschsprung Disease in Children Older than Six Months of Age: Complications After Rectal Biopsy, Insight in Final Diagnoses and Factors Associated With Hirschsprung Disease. J Pediatr Surg 2025; 60:162066. [PMID: 39608087 DOI: 10.1016/j.jpedsurg.2024.162066] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/30/2024] [Revised: 11/04/2024] [Accepted: 11/08/2024] [Indexed: 11/30/2024]
Abstract
INTRODUCTION It is challenging to distinguish between patients with Hirschsprung disease (HD) and patients with other causes of defecation problems based on clinical presentation in patients older than six months. Pathological examination of the rectal biopsy is the gold standard for the diagnosis of HD. The aim of this study was to gain insight into 1) the prevalence and severity of complications following rectal biopsy, 2) the final diagnoses of patients referred for biopsy, and 3) clinical factors associated with HD in patients older than six months. METHODS Children suspected of HD above the age of six months referred for biopsies were analyzed retrospectively. Severity of complications of rectal suction biopsy (RSB) and full thickness biopsy (FTB) were assessed using Clavien-Madadi (CM) grading. Factors associated with HD were tested using multivariate logistic regression analysis. RESULTS From 2000 to 2022, 234 children older than six months of age underwent biopsies because of defecation problems (median age of 47.2 months (IQR = 17.2-87.2)). Of these, 130 out of 234 children underwent RSB and 112 out of 234 children underwent FTB. One patient (0.4 %) developed a complication following RSB (CM1-A): fever without evident cause. Two patients (0.9 %) had ongoing rectal bleeding following FTB. One patient did not require an intervention (CM1-A), the other received rectal spongostan to stop the bleeding and erythrocyte transfusion (CM2). The most frequent final diagnoses were functional constipation (n = 179, 76.5 %), HD (n = 25, 10.6 %) and food intolerance (n = 5, 2.1 %). Associated factors for HD were distended abdomen (OR 5.41, CI 2.05-14.31), vomiting (OR 4.14, CI 1.64-11.85) and no abdominal pain (OR 0.14, CI 0.03-0.65) (model R2 = 0.278). CONCLUSION In children older than six months suspected of HD, presenting with distended abdomen, vomiting and no abdominal pain, we advise obtaining a rectal biopsy in case other causes of constipation are ruled out, because a rectal biopsy is a safe procedure with only minor complications. The most common diagnosis in patients older than six months of age referred for rectal biopsy was functional constipation. LEVEL OF EVIDENCE Level III.
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Affiliation(s)
- H Labib
- Amsterdam UMC Location University of Amsterdam, Department of Pediatric Surgery, Meibergdreef 9, Amsterdam, The Netherlands; Amsterdam Gastroenterology Endocrinology and Metabolism Research Institute, Amsterdam, The Netherlands; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.
| | - I J Shirinskiy
- Amsterdam UMC Location University of Amsterdam, Department of Pediatric Surgery, Meibergdreef 9, Amsterdam, The Netherlands; Amsterdam Gastroenterology Endocrinology and Metabolism Research Institute, Amsterdam, The Netherlands; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands
| | - J J T H Roelofs
- Amsterdam UMC Location University of Amsterdam, Department of Pathology, Meibergdreef 9, Amsterdam, The Netherlands
| | - J P van der Voorn
- Amsterdam UMC Location Vrije Universiteit Amsterdam, Department of Pathology, Boelelaan 1117, Amsterdam, The Netherlands
| | - J van Schuppen
- Amsterdam UMC Location University of Amsterdam, Department of Radiology and Nuclear Medicine, Meibergdreef 9, Amsterdam, The Netherlands
| | - J Oosterlaan
- Amsterdam UMC Location University of Amsterdam, Department of Pediatrics, Emma Children's Hospital Amsterdam UMC Follow-Me Program & Emma Neuroscience Group, Meibergdreef 9, Amsterdam, The Netherlands; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands
| | - L W E van Heurn
- Amsterdam UMC Location University of Amsterdam, Department of Pediatric Surgery, Meibergdreef 9, Amsterdam, The Netherlands; Amsterdam Gastroenterology Endocrinology and Metabolism Research Institute, Amsterdam, The Netherlands; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands
| | - M A Benninga
- Amsterdam Gastroenterology Endocrinology and Metabolism Research Institute, Amsterdam, The Netherlands; Amsterdam UMC Location University of Amsterdam, Department of Pediatric Gastroenterology and Nutrition, Meibergdreef 9, Amsterdam, The Netherlands
| | - J P M Derikx
- Amsterdam UMC Location University of Amsterdam, Department of Pediatric Surgery, Meibergdreef 9, Amsterdam, The Netherlands; Amsterdam Gastroenterology Endocrinology and Metabolism Research Institute, Amsterdam, The Netherlands; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands
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Wang YJ, Fang YF, Cai HJ, Chen L, Zhou CM, Guan GX. 10-year experience with single-site laparoscopic-assisted Soave operation for Hirschsprung disease. MINIM INVASIV THER 2025:1-7. [PMID: 39865602 DOI: 10.1080/13645706.2025.2454966] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/14/2023] [Accepted: 12/29/2024] [Indexed: 01/28/2025]
Abstract
BACKGROUND The aim of this study was to investigate the clinical outcomes after a transumbilical single-site laparoscopic-assisted Soave operation (TSLSO) for Hirschsprung disease (HD) in children, with a 10-year follow‑up results assessment. METHODS We retrospectively analyzed the clinical data of 165 children with HD from January 2013 to January 2023. The operation method was a TSLSO. The operation time, intraoperative bleeding, postoperative abdominal drainage time, postoperative hospitalization time, and postoperative complications were analyzed. RESULTS All 165 cases were successfully completed using the TSLSO. The median operative time was 160 (120-210) minutes, and the median volume of bleeding was 9 mL (3-15 mL). The median length of the resected intestine was 25 cm (20-32 cm), and the median postoperative peritoneal drainage time was 4.2 days (3-6 days). Postoperative defecation function generally recovered well, there was no recurrence of constipation. There were three cases of anal stenosis, 12 cases of perianal dermatitis, two cases of adhesive intestinal obstruction, 14 cases of soiling, and 18 cases of enterocolitis. CONCLUSION The TSLSO is a safe and feasible surgical method for the treatment of HD in children. It has the advantages of little bleeding, a good cosmetic effect, and fast postoperative recovery. However, it does require skilled laparoscopic technique by the surgeon.
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Affiliation(s)
- Yun-Jin Wang
- Department of Pediatric Surgery, Fujian Maternity and Child Health Hospital, Fuzhou, P. R. China
- Department of Colorectal Surgery, The First Affiliated Hospital of Fujian Medical University, Fuzhou, P. R. China
| | - Yi-Fan Fang
- Department of Pediatric Surgery, Fujian Maternity and Child Health Hospital, Fuzhou, P. R. China
| | - Hua-Jun Cai
- Department of Colorectal Surgery, The First Affiliated Hospital of Fujian Medical University, Fuzhou, P. R. China
| | - Liu Chen
- Department of Pediatric Surgery, Fujian Maternity and Child Health Hospital, Fuzhou, P. R. China
| | - Chao-Ming Zhou
- Department of Pediatric Surgery, Fujian Maternity and Child Health Hospital, Fuzhou, P. R. China
| | - Guo-Xian Guan
- Department of Colorectal Surgery, The First Affiliated Hospital of Fujian Medical University, Fuzhou, P. R. China
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Rentea RM, Bokova E, Frischer JS, Gosain A, Langer JC, Levitt MA, Nandivada P, Rialon KL, Rollins MD, Segura B, Wood RJ, Lim IIP. Evaluation and Management of Total Colonic Hirschsprung Disease: A Comprehensive Review From the American Pediatric Surgical Association (APSA) Hirschsprung Disease Interest Group. J Pediatr Surg 2024; 59:161677. [PMID: 39217005 DOI: 10.1016/j.jpedsurg.2024.08.017] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/25/2024] [Revised: 07/24/2024] [Accepted: 08/04/2024] [Indexed: 09/04/2024]
Abstract
BACKGROUND Children with total colonic Hirschsprung disease (TCHD) are a unique group of patients with pre- and postoperative management challenges. This review provides a rational, expert-based approach to diagnosing and managing TCHD. METHODS The guidelines were developed by the Hirschsprung Disease Interest Group members established by the American Pediatric Surgical Association (APSA) Board of Governors. Group discussions, literature review, and expert consensus were used to summarize the current knowledge regarding diagnosis, staged approach, the timing of pull-through, and pre-and postoperative management in children with TCHD. RESULTS This paper presents recommendations for managing TCHD before and after reconstruction, including diagnostic criteria, surgical approaches, bowel management, diet, antibiotic prophylaxis, colonic irrigations, and post-surgical considerations. CONCLUSIONS A clear understanding of the unique challenges posed by TCHD and consensus on its treatment are lacking in the literature. This review standardizes this patient group's pre- and postoperative management. LEVEL OF EVIDENCE V.
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Affiliation(s)
- Rebecca M Rentea
- Comprehensive Colorectal Center, Section of Colorectal and Pelvic Reconstructive Surgery, Department of Pediatric Surgery, Children's Mercy Kansas City, Kansas City, MO, 64108, USA; Department of Surgery, University of Missouri-Kansas City, Kansas City, MO, 64108, USA.
| | - Elizaveta Bokova
- Comprehensive Colorectal Center, Section of Colorectal and Pelvic Reconstructive Surgery, Department of Pediatric Surgery, Children's Mercy Kansas City, Kansas City, MO, 64108, USA
| | - Jason S Frischer
- Colorectal Center for Children, Division of Pediatric General and Thoracic Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA
| | - Ankush Gosain
- Department of Pediatric Surgery, Children's Hospital of Colorado, University of Colorado, Aurora, CO, USA
| | - Jacob C Langer
- Department of Surgery, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada
| | - Marc A Levitt
- Division of Colorectal and Pelvic Reconstruction, Children's National Medical Center, Washington, DC, 20001, USA
| | - Prathima Nandivada
- Colorectal and Pelvic Malformation Center, Department of Surgery, Boston Children's Hospital, Boston, MA, 02115, USA
| | - Kristy L Rialon
- Division of Pediatric Surgery, Department of Surgery, Texas Children's Hospital, Texas, USA
| | - Michael D Rollins
- Department of Surgery, Primary Children's Hospital, University of Utah, Salt Lake City, UT, USA
| | - Bradley Segura
- University of Minnesota, Department of Pediatric Surgery, MHealth Fairview Masonic Children's Hospital, Minneapolis, MN, USA
| | - Richard J Wood
- Department of Pediatric Colorectal and Pelvic Reconstructive Surgery, Nationwide Children's Hospital, Columbus, OH, USA
| | - Irene Isabel P Lim
- Comprehensive Colorectal Center, Section of Colorectal and Pelvic Reconstructive Surgery, Department of Pediatric Surgery, Children's Mercy Kansas City, Kansas City, MO, 64108, USA; Department of Surgery, University of Missouri-Kansas City, Kansas City, MO, 64108, USA
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Miyano G, Suzuki T, Masuda R, Ito M, Iida H, Kaneko K, Abe E, Ikegami M, Nikai K, Ishii J, Lane GJ, Yamataka A, Okazaki T. Questioning the Correlation Between Incidence of Hirschsprung Disease and Indications for Rectal Biopsy. J Laparoendosc Adv Surg Tech A 2024; 34:1031-1034. [PMID: 39180427 DOI: 10.1089/lap.2023.0534] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 08/26/2024] Open
Abstract
Aim: To review the indications for rectal mucosal/submucosal biopsy (RMSBx) used for diagnosing Hirschsprung's disease (HD) in pediatric patients. Methods: The medical records of all children between 1 and 15 years old assessed for chronic constipation between 2012 and 2022 were reviewed. Until the end of 2018, enema usage (E+) was a major indication for RMSBx. In 2019, laxative use for 3 months irrespective of enema use was added as an indication (L+). To determine the relevance of enema usage, L+ was subdivided by enema usage into (L+E+) and (L+E-) groups. The effect of changing the indications for RMSBx on the incidence of HD was investigated. Results: Of 562 eligible subjects, E+ = 410, L+ = 152; demographics are similar. RMSBx rate in E+ (E+RMSBx) was 36/410 (8.8%) and in L+ (L+RMSBx) was 42/152 (27.6%;) (P < .05). For L+RMSBx, 15/42 were L+E+ and 27/42 were L+E-. HD incidence in E+RMSBx was 8/36 (22.2%; E+HD) and in L+RMSBx was 13/42 (31.0%; L+HD) (p = ns). In L+RMSBx, HD incidence in L+E+ was 5/15 (33.3%; L+E+HD) and in L+E- was 8/27 (29.6%; L+E-HD) (P = ns). Differences in daily bowel motion frequency 6 months postoperatively were not statistically significant; E+HD (1.75/d) versus L+HD (2.03/d) and L+E+HD (1.60/day) versus L+E-HD (2.31/day). Unassisted voluntary defecation was confirmed 12 months postoperatively in 7/8 (87.5%) E+HD, 11/13 (84.6%) L+HD, 4/5 (80.0%) L+E+HD, and 7/8 (87.5%) L-E-HD; differences were not significant. Laxatives were still required in 2/8 (25.0%) E+HD, 3/13 (23.1%) L+HD, in 1/5 (20.0%) in L+E+HD, and 2/8 (25.0%) L+E-HD; differences were not significant. Conclusion: Incidence of HD was higher in L+HD, but not significantly different suggesting that indications for RMSBx have potential to influence incidence of HD and hint that the incidence of HD could actually be higher. Further assessment of additional indications is warranted to diagnose HD with greater accuracy.
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Affiliation(s)
- Go Miyano
- Pediatric Surgery, Juntendo University Urayasu Hospital, Urayasu, Japan
| | - Takamasa Suzuki
- Pediatric Surgery, Juntendo University Urayasu Hospital, Urayasu, Japan
| | - Risa Masuda
- Pediatric Surgery, Juntendo University Urayasu Hospital, Urayasu, Japan
| | - Masaki Ito
- Pediatric Surgery, Juntendo University Urayasu Hospital, Urayasu, Japan
| | - Hisae Iida
- Pediatric Surgery, Juntendo University Urayasu Hospital, Urayasu, Japan
| | - Kotaro Kaneko
- Pediatric Surgery, Juntendo University Urayasu Hospital, Urayasu, Japan
| | - Eri Abe
- Pediatric Surgery, Juntendo University Urayasu Hospital, Urayasu, Japan
| | - Michiaki Ikegami
- Pediatric Surgery, Juntendo University Urayasu Hospital, Urayasu, Japan
| | - Koki Nikai
- Pediatric Surgery, Juntendo University Urayasu Hospital, Urayasu, Japan
| | - Junya Ishii
- Pediatric Surgery, Juntendo University Urayasu Hospital, Urayasu, Japan
| | - Geoffrey J Lane
- Pediatric General & Urogenital Surgery, Juntendo University School of Medicine, Tokyo, Japan
| | - Atsuyuki Yamataka
- Pediatric General & Urogenital Surgery, Juntendo University School of Medicine, Tokyo, Japan
| | - Tadaharu Okazaki
- Pediatric Surgery, Juntendo University Urayasu Hospital, Urayasu, Japan
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Eshel Fuhrer A, Govorukhina O, Becker G, Ben-Shahar Y, Moran-Lev H, Sukhotnik I. Extended total colonic aganglionosis and total intestinal aganglionosis: Challenging enemies. Acta Paediatr 2024; 113:2297-2303. [PMID: 38949557 DOI: 10.1111/apa.17341] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/22/2024] [Revised: 05/22/2024] [Accepted: 06/24/2024] [Indexed: 07/02/2024]
Abstract
AIM Extended total colonic aganglionosis (ETCA) represents uncommon forms of Hirschsprung disease (HD), with aganglionosis extending into the proximal small bowel. ETCA management is challenging and associated with poor outcomes and high mortality. This study compares management and outcomes of ETCA to more common HD forms. METHODS A retrospective cohort of HD patients (2012-2023) from two institutions. Three HD forms were compared: short-segment HD (SSHD, n = 19), long-segment HD or total colonic aganglionosis (LS/TCA, n = 9) and ETCA (n = 7). RESULTS Normally innervated segments in ETCA patients ranged 0-70 cm. Median times to first surgery were; ETCA = 3 days versus TCA = 21 days (p = 0.017) and SSHD = 95 days (p < 0.001), respectively. Median number of surgeries were; ETCA = 4, versus TCA = 2 (p = 0.17) and SSHD = 1 (p = 0.002), respectively. All the patients underwent a definitive pull-through procedure, except four ETCA patients with a permanent jejunostomy and residual aganglionic segment of 57-130 cm. ETCA patients had 92% lower odds of enterocolitis (14%) compared to TCA patients (67%, p = 0.054), and comparable odds to SSHD patients (16%, p = 0.92). ETCA mortality was 14%. CONCLUSION Extended total colonic aganglionosis patients require earlier and multiple interventions. Leaving an aganglionic segment may be advantageous, without increasing risk for enterocolitis. Tailored surgical treatment and rehabilitation programmes may prevent mortality and need for transplantation.
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Affiliation(s)
- Audelia Eshel Fuhrer
- Department of Pediatric Surgery, Dana-Dwek Children's Hospital, Affiliated to the Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel
| | - Olga Govorukhina
- Republican Scientific and Practical Center for Pediatric Surgery, Minsk, Belarus
| | - Gal Becker
- Department of Pediatric Surgery, Dana-Dwek Children's Hospital, Affiliated to the Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel
| | - Yoav Ben-Shahar
- Department of Pediatric Surgery, Dana-Dwek Children's Hospital, Affiliated to the Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel
| | - Hadar Moran-Lev
- Pediatric Gastroenterology Unit, Dana-Dwek Children's Hospital, Affiliated to the Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel
| | - Igor Sukhotnik
- Department of Pediatric Surgery, Dana-Dwek Children's Hospital, Affiliated to the Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel
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9
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Cheng LS, Wood RJ. Hirschsprung disease: common and uncommon variants. WORLD JOURNAL OF PEDIATRIC SURGERY 2024; 7:e000864. [PMID: 39224573 PMCID: PMC11367348 DOI: 10.1136/wjps-2024-000864] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Key Words] [Grants] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/31/2024] [Accepted: 08/12/2024] [Indexed: 09/04/2024] Open
Affiliation(s)
- Lily S Cheng
- Department of Surgery, Division of Pediatric Surgery, University of Virginia, Charlottesville, Virginia, USA
| | - Richard J Wood
- Department of Pediatric Colorectal and Pelvic Reconstructive Surgery, Nationwide Children's Hospital, Columbus, Ohio, USA
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Budzanowski A, Geoghegan N, Macdonald A, Choudhry M. The Diagnostic Pathway of Hirschsprung's Disease in Paediatric Patients: A Single-Centre Experience. CHILDREN (BASEL, SWITZERLAND) 2024; 11:970. [PMID: 39201905 PMCID: PMC11352980 DOI: 10.3390/children11080970] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Subscribe] [Scholar Register] [Received: 07/03/2024] [Revised: 07/30/2024] [Accepted: 08/01/2024] [Indexed: 09/03/2024]
Abstract
BACKGROUND The presenting symptoms of patients with Hirschsprung's disease (HD) are a failure to pass meconium, abdominal distension, and bilious vomiting. The gold standard diagnosis is a rectal biopsy to confirm aganglionosis. The aim of our study was to describe the diagnostic pathway of Hirschsprung's disease at our institution and document the indication for a rectal biopsy. METHODS We have performed a prospective collection of all patients who underwent a rectal biopsy to exclude HD from December 2022 until September 2023 including. The following data were collected: patient's age, presenting symptoms, type of biopsy, failure rate, complications, and histopathological results. RESULTS We identified 33 patients who underwent 34 rectal biopsies at 0.6 years of age. A total of 17 patients had a rectal suction biopsy (RSB), and 17 patients underwent a partial thickness under general anaesthesia (GA). 1/17 (6%) patients had an inconclusive RSB and subsequently underwent a biopsy under GA. Constipation and chronic abdominal distension plus vomiting were the most common presenting symptoms throughout all ages. Five patients (15%) had a rectal biopsy that was positive for HD. CONCLUSION A protocolised approach to the assessment of infants and children with suspected HD ensures the appropriate utilisation of invasive procedures such as biopsy.
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Affiliation(s)
| | | | | | - Muhammad Choudhry
- Department of Paediatric Surgery, Chelsea and Westminster Hospital, 369 Fulham Road, London SW10 9NH, UK
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Zhang Y, Xiang X, Li X, Feng W, Guo Z. Early intervention in Hirschsprung's disease: effects on enterocolitis and surgical outcomes. BMC Pediatr 2024; 24:476. [PMID: 39061020 PMCID: PMC11282594 DOI: 10.1186/s12887-024-04956-z] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/08/2024] [Accepted: 07/17/2024] [Indexed: 07/28/2024] Open
Abstract
BACKGROUND The timing of surgical intervention for Hirschsprung's disease (HSCR) has been a topic of continued discussion. The objective of this study was to evaluate the significance of age at surgery in the management of HSCR by conducting a comparative analysis of the correlation between surgical age and midterm outcomes. METHODS We conducted a retrospective analysis of children with HSCR who underwent one-stage laparoscopic assisted pull-through surgery with modified Swenson technology at our hospital between 2015 and 2019. The study population was stratified into two groups based on surgical age: patients who underwent surgery within a period of less than 3 months and those who underwent surgery between 3 and 12 months. The basic conditions, complications at 3-7 years after surgery, anal function (Rintala scale) and quality of life (PedsQLTM4.0) were compared between the groups. RESULTS A total of 235 children (196 males and 39 females) were included in the study. No statistically significant differences in postoperative bowel function (P = 0.968) or quality of life (P = 0.32) were found between the two groups. However, there was a significant reduction in the incidence of Hirschsprung-associated enterocolitis (HAEC) among individuals under the age of three months prior to undergoing surgical intervention (69.1%) compared to the incidence observed postsurgery (30.9%). This difference was statistically significant (P < 0.001). CONCLUSION In the current study, the age at which surgery was performed did not exhibit a discernible inclination towards influencing mid-term anal function or quality of life. Early surgical intervention can effectively diminish the occurrence of HAEC, minimize the extent of bowel resection, and expedite the duration of the surgical procedure.
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Affiliation(s)
- Yunhan Zhang
- Department of neonatal surgery, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Structural Birth Defect and Reconstruction, Children's Hospital of Chongqing Medical University, Chongqing, China
| | - Xiao Xiang
- Department of neonatal surgery, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Structural Birth Defect and Reconstruction, Children's Hospital of Chongqing Medical University, Chongqing, China
| | - Xunfeng Li
- Department of neonatal surgery, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Structural Birth Defect and Reconstruction, Children's Hospital of Chongqing Medical University, Chongqing, China
| | - Wei Feng
- Department of neonatal surgery, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Structural Birth Defect and Reconstruction, Children's Hospital of Chongqing Medical University, Chongqing, China
| | - Zhenhua Guo
- Department of neonatal surgery, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Structural Birth Defect and Reconstruction, Children's Hospital of Chongqing Medical University, Chongqing, China.
- , 20, Jinyu Road, Yubei District, Chongqing, 400025, China.
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12
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Zhang F, Cui M, Zhang L, Ma B, Guo F, Wang G. GFRA4 improves the neurogenic potential of enteric neural crest stem cells via hedgehog pathway. Pediatr Res 2024:10.1038/s41390-024-03158-8. [PMID: 38658664 DOI: 10.1038/s41390-024-03158-8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/29/2023] [Revised: 02/05/2024] [Accepted: 03/01/2024] [Indexed: 04/26/2024]
Abstract
BACKGROUND Hirschsprung disease (HSCR) is a congenital intestinal disease characterised by functional obstruction of the colon. Herein, we investigated the role and mechanism of the gene GFRA4 in HSCR. METHODS GFRA4 expression in the ganglionic and aganglionic segment tissues in patients with HSCR and healthy colon tissues were detected using qRT-PCR, western blot, and immunohistochemistry. Cell proliferation, cycle distribution, apoptosis, changes in mitochondrial membrane potential, and differentiation were assessed in mouse enteric neural crest stem cells (ENCSCs) using the CCK-8 assay, EdU staining, flow cytometry, JC-1 probe, and immunofluorescence, respectively. GSEA analysis was performed to screen the signaling pathways regulated by GFRA4. RESULTS GFRA4 was downregulated in aganglionic segment tissues compared to control and ganglionic segment tissues. GFRA4 overexpression promoted proliferation and differentiation, and inhibited apoptosis in ENCSCs, while GFRA4 down-regulation had the opposite result. GFRA4 activated the hedgehog pathway. GFRA4 overexpression enhanced the expression of key factors of the hedgehog pathway, including SMO, SHH, and GLI1. However, GFRA4 down-regulation reduced their expression. An antagonist of hedgehog pathway, cyclopamine, attenuated the effect of GFRA4 overexpression on proliferation, differentiation, and apoptosis of ENCSCs. CONCLUSION GFRA4 promotes proliferation and differentiation but inhibits apoptosis of ENCSCs via the hedgehog pathway in HSCR. IMPACT This study confirms that GFRA4 improves the proliferation and differentiation of ENCSCs via modulation of the hedgehog pathway. This study for the first time revealed the role and the mechanism of the action of GFRA4 in HSCR, which indicates that GFRA4 may play a role in the pathological development of HSCR. Our findings may lay the foundation for further investigation of the mechanisms underlying HSCR development and into targets of HSCR treatment.
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Affiliation(s)
- Fangfang Zhang
- Department of Pediatric Surgery, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong, 250021, China
| | - Mingyu Cui
- Department of Pediatric Surgery, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong, 250021, China
| | - Lijuan Zhang
- Department of Pediatric Surgery, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong, 250021, China
| | - Bangzhen Ma
- Department of Pediatric Surgery, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong, 250021, China
| | - Feng Guo
- Department of Pediatric Surgery, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong, 250021, China
| | - Gang Wang
- Department of Pediatric Surgery, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong, 250021, China.
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13
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Zhu T, Tang W, Feng J. Chinese expert consensus statement on the diagnosis and treatment of Hirschsprung disease. Chin Med J (Engl) 2024; 137:505-507. [PMID: 38297440 DOI: 10.1097/cm9.0000000000003010] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/08/2023] [Indexed: 02/02/2024] Open
Affiliation(s)
- Tianqi Zhu
- Department of Pediatric Surgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology; Hubei Clinical Center of Hirschsprung's Disease and Allied Disorders, Wuhan, Hubei 430030, China
| | - Weibing Tang
- Department of Neonatal Surgery, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu 210008, China
| | - Jiexiong Feng
- Department of Pediatric Surgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology; Hubei Clinical Center of Hirschsprung's Disease and Allied Disorders, Wuhan, Hubei 430030, China
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14
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Benibol Y, Önenerk Men AM, Hakalmaz AE, Çomunoğlu N, Topuzlu Tekant G, Özcan R. The Effect of the Ganglionic Segment Inflammatory Response to Postoperative Enterocolitis in Hirschsprung Disease. Fetal Pediatr Pathol 2024; 43:140-150. [PMID: 38268442 DOI: 10.1080/15513815.2024.2306280] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/08/2023] [Accepted: 01/10/2024] [Indexed: 01/26/2024]
Abstract
INTRODUCTION We examined the relationship between proinflammatory cytokines that occur in the inflammatory reaction in the intestine in Hirschsprung disease (HD) and Hirschsprung-associated enterocolitis (HAEC). METHODS Thirty cases (M:27, F:3) operated on due to HD. The cases were divided into three groups: group 1 with pre and post operative EC, group 2 with post-operative, and group 3 with pre-operative EC. The intestinal segments were evaluated by immunohistochemistry for interleukin 1 beta (IL-1ß), tumor necrosis factor-alpha (TNF-α), and interleukin 6 (IL-6). RESULTS IL-1β staining was significantly higher in the ganglionic zone of groups with enterocolitis compared to the control group (p = 0.012). TNF-α staining in the transitional zone of Group 3 and IL-1β staining in the ganglionic zone of Group 1 was significantly higher than the control group (p = 0.030, p = 0.020). CONCLUSION In our study, older age at diagnosis and more than 20% IL-1ß staining in the ganglionic segment were found to be risk factors for HAEC. It is noteworthy that the increase in IL-1ß can be associated with HAEC.
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Affiliation(s)
- Yalım Benibol
- Cerrahpasa Faculty of Medicine, Department of Pediatric Surgery, Istanbul University-Cerrahpasa, Istanbul, Turkey
| | - Ayşe Mine Önenerk Men
- Cerrahpasa Faculty of Medicine, Department of Pathology, Istanbul University-Cerrahpasa, Istanbul, Turkey
| | - Ali Ekber Hakalmaz
- Cerrahpasa Faculty of Medicine, Department of Pediatric Surgery, Istanbul University-Cerrahpasa, Istanbul, Turkey
| | - Nil Çomunoğlu
- Cerrahpasa Faculty of Medicine, Department of Pathology, Istanbul University-Cerrahpasa, Istanbul, Turkey
| | - Gonca Topuzlu Tekant
- Cerrahpasa Faculty of Medicine, Department of Pediatric Surgery, Istanbul University-Cerrahpasa, Istanbul, Turkey
| | - Rahşan Özcan
- Cerrahpasa Faculty of Medicine, Department of Pediatric Surgery, Istanbul University-Cerrahpasa, Istanbul, Turkey
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15
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Wattchow DA, Brookes SJ, Spencer NJ, Heitmann PT, De Giorgio R, Costa M, Dinning PG. From the organ bath to the whole person: a review of human colonic motility. ANZ J Surg 2024; 94:320-326. [PMID: 37974532 DOI: 10.1111/ans.18779] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/26/2023] [Revised: 11/01/2023] [Accepted: 11/02/2023] [Indexed: 11/19/2023]
Abstract
Motor function of the colon is essential for health. Our current understanding of the mechanisms that underlie colonic motility are based upon a range of experimental techniques, including molecular biology, single cell studies, recordings from muscle strips, analysis of part or whole organ ex vivo through to in vivo human recordings. For the surgeon involved in the clinical management of colonic conditions this amounts to a formidable volume of material. Here, we synthesize the key findings from these various experimental approaches so that surgeons can be better armed to deal with the complexities of the colon.
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Affiliation(s)
- David A Wattchow
- College of Medicine and Public Health, Flinders University, Adelaide, South Australia, Australia
- Departments of Surgery and Gastroenterology, Flinders Medical Centre, Adelaide, South Australia, Australia
| | - Simon J Brookes
- College of Medicine and Public Health, Flinders University, Adelaide, South Australia, Australia
| | - Nick J Spencer
- College of Medicine and Public Health, Flinders University, Adelaide, South Australia, Australia
| | - Paul T Heitmann
- College of Medicine and Public Health, Flinders University, Adelaide, South Australia, Australia
| | - Roberto De Giorgio
- Department of Translational Medicine, University of Ferrara, Ferrara, Italy
| | - Marcello Costa
- College of Medicine and Public Health, Flinders University, Adelaide, South Australia, Australia
| | - Phil G Dinning
- College of Medicine and Public Health, Flinders University, Adelaide, South Australia, Australia
- Departments of Surgery and Gastroenterology, Flinders Medical Centre, Adelaide, South Australia, Australia
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16
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Beltman L, Labib H, Masselink M, Backes M, Benninga MA, Roelofs JJTH, van der Voorn JP, van Schuppen J, Oosterlaan J, van Heurn LWE, Derikx JPM. Diagnosing Hirschsprung Disease in Children Younger than 6 Months of Age: Insights in Incidence of Complications of Rectal Suction Biopsy and Other Final Diagnoses. Eur J Pediatr Surg 2023; 33:360-366. [PMID: 36724825 DOI: 10.1055/s-0043-1760839] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/03/2023]
Abstract
BACKGROUND The gold standard for diagnosing Hirschsprung disease (HD) in patients younger than 6 months is pathological examination of rectal suction biopsy (RSB). The aim of this study was to gain insight into the following: (1) complications following RSB, (2) final diagnosis of patients referred for RSB, and (3) factors associated with HD. METHODS Patients suspected of HD referred for RSB at our center were analyzed retrospectively. Severity of complications of RSB was assessed using Clavien-Dindo (CD) grading. Factors associated with HD were tested using multivariate logistic regression analysis. RESULTS From 2000 to 2021, 371 patients underwent RSB because of infrequent defecation, at a median age of 44 days. Three patients developed ongoing rectal bleeding (0.8%) graded CD1. Most frequent final diagnoses were: HD (n = 151, 40.7%), functional constipation (n = 113, 31%), idiopathic meconium ileus (n = 11, 3%), and food intolerance (n = 11, 3%). Associated factors for HD were male sex (odds ratio [OR], 3.19; confidence interval [CI], 1.56-6.53), presence of syndrome (OR, 7.18; CI, 1.63-31.69), younger age at time of RSB (OR, 0.98; CI, 0.85-0.98), meconium passage for more than 48 hours (OR, 3.15; CI, 1.51-6.56), distended abdomen (OR, 2.09; CI, 1.07-4.07), bilious vomiting (OR, 6.39; CI, 3.28-12.47), and failure to thrive (OR, 8.46; CI, 2.11-34.02) (model R 2 = 0.566). CONCLUSION RSB is a safe procedure with few and only minor complications. In the majority of patients referred for RSB under the age of 6 months, HD was found followed by a functional cause for the defecation problems. RSB should be obtained on a low threshold in all patients under the age of 6 months with the suspicion of HD.
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Affiliation(s)
- Lieke Beltman
- Department of Pediatric Surgery, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands
- Department of Pediatrics, Emma Children's Hospital Amsterdam UMC Follow-Me Program & Emma Neuroscience Group, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands
- Amsterdam Gastroenterology Endocrinology and Metabolism Research Institute, Amsterdam, the Netherlands
- Amsterdam Reproduction and Development Research Institute, Amsterdam, the Netherlands
| | - Hosnieya Labib
- Department of Pediatric Surgery, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands
- Amsterdam Gastroenterology Endocrinology and Metabolism Research Institute, Amsterdam, the Netherlands
- Amsterdam Reproduction and Development Research Institute, Amsterdam, the Netherlands
| | - Marit Masselink
- Department of Pediatric Surgery, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands
| | - Manouk Backes
- Department of Pediatric Surgery, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands
| | - Marc A Benninga
- Amsterdam Gastroenterology Endocrinology and Metabolism Research Institute, Amsterdam, the Netherlands
- Department of Pediatric Gastroenterology and Nutrition, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands
| | - Joris J T H Roelofs
- Department of Pathology, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands
| | - J Patrick van der Voorn
- Department of Pathology, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, the Netherlands
| | - Joost van Schuppen
- Department of Radiology and Nuclear Medicine, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands
| | - Jaap Oosterlaan
- Department of Pediatrics, Emma Children's Hospital Amsterdam UMC Follow-Me Program & Emma Neuroscience Group, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands
- Amsterdam Reproduction and Development Research Institute, Amsterdam, the Netherlands
| | - L W Ernest van Heurn
- Department of Pediatric Surgery, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands
- Amsterdam Gastroenterology Endocrinology and Metabolism Research Institute, Amsterdam, the Netherlands
- Amsterdam Reproduction and Development Research Institute, Amsterdam, the Netherlands
| | - Joep P M Derikx
- Department of Pediatric Surgery, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands
- Amsterdam Gastroenterology Endocrinology and Metabolism Research Institute, Amsterdam, the Netherlands
- Amsterdam Reproduction and Development Research Institute, Amsterdam, the Netherlands
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17
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Munnangi P, Sayed Mushir Ali A, Deva S, Kushwaha V, Srivastava S, Boini A, Agarwal RS, Dinkar PK, Chaudhary E. Post-surgical Outcomes of Different Surgical Techniques in Hirschsprung's Disease: A Literature Review. Cureus 2023; 15:e47012. [PMID: 37965402 PMCID: PMC10642618 DOI: 10.7759/cureus.47012] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 10/14/2023] [Indexed: 11/16/2023] Open
Abstract
Hirschsprung's disease (HD) is a rare condition that affects newborns and is characterized by the lack of ganglion cells in the colon. Typical symptoms include difficulty passing stool, vomiting, and trouble feeding. Various surgical methods are available to manage the condition. The aim of the study is to investigate and compare the post-surgical outcomes of different surgical techniques used in the treatment of HD. A thorough literature search was conducted using various electronic databases to identify relevant studies to be referred to. Double-blinded screening of the identified articles led to the final selection of 40 out of 440 HD, including transanal endorectal pull-through (TERPT), laparoscopic approaches, and modified techniques. Several studies have investigated surgical procedures for HD, including TERPT, laparoscopic methods, and modified techniques. These have shown positive outcomes, with fewer complications, improved bowel function, and favorable cosmetic results. Individual patient characteristics and surgeon expertise should guide procedure selection. Surgery for HD aims to restore normal bowel function, but post-surgical outcomes can include constipation or fecal incontinence. Complications like enterocolitis, anastomotic stricture, and sphincter damage may occur. Laparoscopic approaches have shorter hospital stays. However long-term follow-up is essential to assess quality of life, psychological well-being, and potential side effects.
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Affiliation(s)
| | | | - Sheryl Deva
- Medicine, Kamineni Academy of Medical Sciences and Research Centre, Hyderabad, IND
| | - Varsha Kushwaha
- Medicine, Grant Government Medical College and Sir JJ Group of Hospitals, Mumbai, IND
| | | | - Aishwarya Boini
- Internal Medicine, Davao Medical School Foundation, Davao, PHL
| | - Ritu S Agarwal
- Internal Medicine, DY Patil University School of Medicine, Navi Mumbai, IND
| | | | - Esha Chaudhary
- Internal Medicine, Government Medical College, Kannauj, IND
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18
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Choi EL, Taheri N, Tan E, Matsumoto K, Hayashi Y. The Crucial Role of the Interstitial Cells of Cajal in Neurointestinal Diseases. Biomolecules 2023; 13:1358. [PMID: 37759758 PMCID: PMC10526372 DOI: 10.3390/biom13091358] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/11/2023] [Revised: 09/03/2023] [Accepted: 09/06/2023] [Indexed: 09/29/2023] Open
Abstract
Neurointestinal diseases result from dysregulated interactions between the nervous system and the gastrointestinal (GI) tract, leading to conditions such as Hirschsprung's disease and irritable bowel syndrome. These disorders affect many people, significantly diminishing their quality of life and overall health. Central to GI motility are the interstitial cells of Cajal (ICC), which play a key role in muscle contractions and neuromuscular transmission. This review highlights the role of ICC in neurointestinal diseases, revealing their association with various GI ailments. Understanding the functions of the ICC could lead to innovative perspectives on the modulation of GI motility and introduce new therapeutic paradigms. These insights have the potential to enhance efforts to combat neurointestinal diseases and may lead to interventions that could alleviate or even reverse these conditions.
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Affiliation(s)
- Egan L. Choi
- Enteric Neuroscience Program and Department of Physiology and Biomedical Engineering, Mayo Clinic College of Medicine and Science, Guggenheim 10, 200 1st Street SW, Rochester, MN 55905, USA; (E.L.C.); (N.T.)
- Gastroenterology Research Unit, Mayo Clinic College of Medicine and Science, Rochester, MN 55905, USA
| | - Negar Taheri
- Enteric Neuroscience Program and Department of Physiology and Biomedical Engineering, Mayo Clinic College of Medicine and Science, Guggenheim 10, 200 1st Street SW, Rochester, MN 55905, USA; (E.L.C.); (N.T.)
- Gastroenterology Research Unit, Mayo Clinic College of Medicine and Science, Rochester, MN 55905, USA
| | - Elijah Tan
- Enteric Neuroscience Program and Department of Physiology and Biomedical Engineering, Mayo Clinic College of Medicine and Science, Guggenheim 10, 200 1st Street SW, Rochester, MN 55905, USA; (E.L.C.); (N.T.)
- Gastroenterology Research Unit, Mayo Clinic College of Medicine and Science, Rochester, MN 55905, USA
| | - Kenjiro Matsumoto
- Laboratory of Pathophysiology, Faculty of Pharmaceutical Sciences, Doshisha Women’s College of Liberal Arts, Kyoto 610-0395, Japan;
| | - Yujiro Hayashi
- Enteric Neuroscience Program and Department of Physiology and Biomedical Engineering, Mayo Clinic College of Medicine and Science, Guggenheim 10, 200 1st Street SW, Rochester, MN 55905, USA; (E.L.C.); (N.T.)
- Gastroenterology Research Unit, Mayo Clinic College of Medicine and Science, Rochester, MN 55905, USA
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19
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Bokova E, Prasade N, Janumpally S, Rosen JM, Lim IIP, Levitt MA, Rentea RM. State of the Art Bowel Management for Pediatric Colorectal Problems: Hirschsprung Disease. CHILDREN (BASEL, SWITZERLAND) 2023; 10:1418. [PMID: 37628417 PMCID: PMC10453740 DOI: 10.3390/children10081418] [Citation(s) in RCA: 9] [Impact Index Per Article: 4.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Received: 06/30/2023] [Revised: 08/12/2023] [Accepted: 08/17/2023] [Indexed: 08/27/2023]
Abstract
After an initial pull-though, patients with Hirschsprung disease (HD) can present with obstructive symptoms, Hirschsprung-associated enterocolitis (HAEC), failure to thrive, or fecal soiling. This current review focuses on algorithms for evaluation and treatment in children with HD as a part of a manuscript series on updates in bowel management. In constipated patients, anatomic causes of obstruction should be excluded. Once anatomy is confirmed to be normal, laxatives, fiber, osmotic laxatives, or mechanical management can be utilized. Botulinum toxin injections are performed in all patients with HD before age five because of the nonrelaxing sphincters that they learn to overcome with increased age. Children with a patulous anus due to iatrogenic damage of the anal sphincters are offered sphincter reconstruction. Hypermotility is managed with antidiarrheals and small-volume enemas. Family education is crucial for the early detection of HAEC and for performing at-home rectal irrigations.
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Affiliation(s)
- Elizaveta Bokova
- Comprehensive Colorectal Center, Department of Surgery, Children’s Mercy Kansas City, Kansas City, MO 64108, USA
| | - Ninad Prasade
- Comprehensive Colorectal Center, Department of Surgery, Children’s Mercy Kansas City, Kansas City, MO 64108, USA
| | - Sanjana Janumpally
- Comprehensive Colorectal Center, Department of Surgery, Children’s Mercy Kansas City, Kansas City, MO 64108, USA
| | - John M. Rosen
- Division of Pediatric Gastroenterology, Hepatology and Nutrition, Children’s Mercy Kansas City, Kansas City, MO 64108, USA
- Department of Pediatrics, University of Missouri-Kansas City, Kansas City, MO 64108, USA
| | - Irene Isabel P. Lim
- Comprehensive Colorectal Center, Department of Surgery, Children’s Mercy Kansas City, Kansas City, MO 64108, USA
- Department of Surgery, University of Missouri-Kansas City, Kansas City, MO 64108, USA
| | - Marc A. Levitt
- Division of Colorectal and Pelvic Reconstruction, Children’s National Medical Center, Washington, DC 20001, USA
| | - Rebecca M. Rentea
- Comprehensive Colorectal Center, Department of Surgery, Children’s Mercy Kansas City, Kansas City, MO 64108, USA
- Department of Surgery, University of Missouri-Kansas City, Kansas City, MO 64108, USA
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20
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Ruan L, Lei J, Yuan Y, Li H, Yang H, Wang J, Zhang Q. MIR31HG, a potential lncRNA in human cancers and non-cancers. Front Genet 2023; 14:1145454. [PMID: 37636269 PMCID: PMC10449471 DOI: 10.3389/fgene.2023.1145454] [Citation(s) in RCA: 2] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/16/2023] [Accepted: 07/31/2023] [Indexed: 08/29/2023] Open
Abstract
Long non-coding RNAs have recently attracted considerable attention due to their aberrant expression in human diseases. LncMIR31HG is a novel lncRNA that is abnormally expressed in multiple diseases and implicated in various stages of disease progression. A large proportion of recent studies have indicated that MIR31HG has biological functions by triggering various signalling pathways in the pathogenesis of human diseases, especially cancers. More importantly, the abnormal expression of MIR31HG makes it a potential biomarker in diagnosis and prognosis, as well as a promising target for treatments. This review aims to systematically summarize the gene polymorphism, expression profiles, biological roles, underlying mechanisms, and clinical applications of MIR31HG in human diseases.
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Affiliation(s)
- Luxi Ruan
- Department of Oncology, The Affiliated Jiangning Hospital with Nanjing Medical University, Nanjing, Jiangsu, China
| | - Jing Lei
- Department of Oncology, The Affiliated Jiangning Hospital with Nanjing Medical University, Nanjing, Jiangsu, China
| | - Yihang Yuan
- Department of Oncology, The Affiliated Jiangning Hospital with Nanjing Medical University, Nanjing, Jiangsu, China
| | - Huizi Li
- Department of Oncology, The Affiliated Jiangning Hospital with Nanjing Medical University, Nanjing, Jiangsu, China
| | - Hui Yang
- Department of Oncology, The Affiliated Jiangning Hospital with Nanjing Medical University, Nanjing, Jiangsu, China
| | - Jinyan Wang
- Department of Oncology, Fudan University Shanghai Cancer Center, Shanghai, China
| | - Quanan Zhang
- Department of Oncology, The Affiliated Jiangning Hospital with Nanjing Medical University, Nanjing, Jiangsu, China
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21
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Gershon EM, Rodriguez L, Arbizu RA. Hirschsprung's disease associated enterocolitis: A comprehensive review. World J Clin Pediatr 2023; 12:68-76. [PMID: 37342453 PMCID: PMC10278080 DOI: 10.5409/wjcp.v12.i3.68] [Citation(s) in RCA: 6] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/29/2022] [Revised: 02/09/2023] [Accepted: 03/21/2023] [Indexed: 06/08/2023] Open
Abstract
Hirschsprung's disease (HSCR) is a congenital disorder characterized by failure of the neural crest cells to migrate and populate the distal bowel during gestation affecting different lengths of intestine leading to a distal functional obstruction. Surgical treatment is needed to correct HSCR once the diagnosis is confirmed by demonstrating the absence of ganglion cells or aganglionosis of the affected bowel segment. Hirschsprung's disease associated enterocolitis (HAEC) is an inflammatory complication associated with HSCR that can present either in the pre- or postoperative period and associated with increased morbidity and mortality. The pathogenesis of HAEC remains poorly understood, but intestinal dysmotility, dysbiosis and impaired mucosal defense and intestinal barrier function appear to play a significant role. There is no clear definition for HAEC, but the diagnosis is primarily clinical, and treatment is guided based on severity. Here, we aim to provide a comprehensive review of the clinical presentation, etiology, pathophysiology, and current therapeutic options for HAEC.
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Affiliation(s)
- Eric M Gershon
- Section of Pediatric Gastroenterology, Yale University School of Medicine, New Haven, CT 06520, United States
| | - Leonel Rodriguez
- Section of Pediatric Gastroenterology, Yale University School of Medicine, New Haven, CT 06520, United States
| | - Ricardo A Arbizu
- Section of Pediatric Gastroenterology, Yale University School of Medicine, New Haven, CT 06520, United States
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Hawez T, Graneli C, Erlöv T, Gottberg E, Munoz Mitev R, Hagelsteen K, Evertsson M, Jansson T, Cinthio M, Stenström P. Ultra-High Frequency Ultrasound Imaging of Bowel Wall in Hirschsprung's Disease-Correlation and Agreement Analyses of Histoanatomy. Diagnostics (Basel) 2023; 13:diagnostics13081388. [PMID: 37189490 DOI: 10.3390/diagnostics13081388] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/09/2023] [Revised: 04/02/2023] [Accepted: 04/04/2023] [Indexed: 05/17/2023] Open
Abstract
Hirschsprung's disease (HD) is characterized by aganglionosis in the bowel wall, requiring resection. Ultra-high frequency ultrasound (UHFUS) imaging of the bowel wall has been suggested to be an instantaneous method of deciding resection length. The aim of this study was to validate UHFUS imaging of the bowel wall in children with HD by exploring the correlation and systematic differences between UHFUS and histopathology. Resected fresh bowel specimens of children 0-1 years old, operated on for rectosigmoid aganglionosis at a national HD center 2018-2021, were examined ex vivo with UHFUS center frequency 50 MHz. Aganglionosis and ganglionosis were confirmed by histopathological staining and immunohistochemistry. Histoanatomical layers of bowel wall in histopathological and UHFUS images, respectively, were outlined using MATLAB programs. Both histopathological and UHFUS images were available for 19 aganglionic and 18 ganglionic specimens. The thickness of muscularis interna correlated positively between histopathology and UHFUS in both aganglionosis (R = 0.651, p = 0.003) and ganglionosis (R = 0.534, p = 0.023). The muscularis interna was systematically thicker in histopathology than in UHFUS images in both aganglionosis (0.499 vs. 0.309 mm; p < 0.001) and ganglionosis (0.644 versus 0.556 mm; p = 0.003). Significant correlations and systematic differences between histopathological and UHFUS images support the hypothesis that UHFUS reproduces the histoanatomy of the bowel wall in HD accurately.
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Affiliation(s)
- Tebin Hawez
- Department of Pediatric Surgery, Children's Hospital, Skåne University Hospital Lund, Lund University, 221 85 Lund, Sweden
| | - Christina Graneli
- Department of Pediatric Surgery, Children's Hospital, Skåne University Hospital Lund, Lund University, 221 85 Lund, Sweden
| | - Tobias Erlöv
- Department of Biomedical Engineering, The Faculty of Engineering, Lund University, 223 63 Lund, Sweden
| | - Emilia Gottberg
- Department of Clinical Genetics and Pathology, Skåne University Hospital, Lund University, 222 42 Lund, Sweden
| | - Rodrigo Munoz Mitev
- Department of Clinical Genetics and Pathology, Skåne University Hospital, Lund University, 222 42 Lund, Sweden
| | - Kristine Hagelsteen
- Department of Pediatric Surgery, Children's Hospital, Skåne University Hospital Lund, Lund University, 221 85 Lund, Sweden
| | - Maria Evertsson
- Department of Biomedical Engineering, Skåne University Hospital Lund, The Faculty of Engineering, Lund University, 221 00 Lund, Sweden
| | - Tomas Jansson
- Department of Biomedical Engineering, Skåne University Hospital Lund, The Faculty of Engineering, Lund University, 221 00 Lund, Sweden
| | - Magnus Cinthio
- Department of Biomedical Engineering, The Faculty of Engineering, Lund University, 223 63 Lund, Sweden
| | - Pernilla Stenström
- Department of Pediatric Surgery, Children's Hospital, Skåne University Hospital Lund, Lund University, 221 85 Lund, Sweden
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23
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Ambartsumyan L, Patel D, Kapavarapu P, Medina-Centeno RA, El-Chammas K, Khlevner J, Levitt M, Darbari A. Evaluation and Management of Postsurgical Patient With Hirschsprung Disease Neurogastroenterology & Motility Committee: Position Paper of North American Society of Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN). J Pediatr Gastroenterol Nutr 2023; 76:533-546. [PMID: 36720091 DOI: 10.1097/mpg.0000000000003717] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/02/2023]
Abstract
Children with Hirschsprung disease have postoperative long-term sequelae in defecation that contribute to morbidity and mortality and significantly impact their quality of life. Pediatric patients experience ongoing long-term defecation concerns, which can include fecal incontinence (FI) and postoperative obstructive symptoms, such as constipation and Hirschsprung-associated enterocolitis. The American Pediatric Surgical Association has developed guidelines for management of these postoperative obstructive symptoms and FI. However, the evaluation and management of patients with postoperative defecation problems varies among different pediatric gastroenterology centers. This position paper from the Neurogastroenterology & Motility Committee of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition reviews the current evidence and provides suggestions for the evaluation and management of postoperative patients with Hirschsprung disease who present with persistent defecation problems.
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Affiliation(s)
- Lusine Ambartsumyan
- From the Division of Gastroenterology and Nutrition, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, WA
| | - Dhiren Patel
- the Division of Pediatric Gastroenterology, Hepatology and Nutrition, Cardinal Glennon Children's Medical Center, Saint Louis University School of Medicine, St Louis, MO
| | - Prasanna Kapavarapu
- the Division of Pediatric Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, Philadelphia, PA
| | - Ricardo A Medina-Centeno
- the Division of Gastroenterology, Hepatology and Nutrition, Phoenix Children's, College of Medicine, University of Arizona, Tucson, AZ
| | - Khalil El-Chammas
- the Division of Gastroenterology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH
| | - Julie Khlevner
- the Division of Gastroenterology, Hepatology and Nutrition, Columbia University Vagelos College of Physicians and Surgeons, New York, NY
| | - Marc Levitt
- the Division of Colorectal and Pelvic Reconstruction, Children's National Hospital, Washington, DC
| | - Anil Darbari
- the Division of Colorectal and Pelvic Reconstruction, Children's National Hospital, Washington, DC
- the Division of Gastroenterology and Nutrition, Children's National Hospital, Washington, DC
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24
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Sutthatarn P, Lapidus-Krol E, Smith C, Halaweish I, Rialon K, Ralls MW, Rentea RM, Madonna MB, Haddock C, Rocca AM, Gosain A, Frischer J, Piper H, Goldstein AM, Saadai P, Durham MM, Dickie B, Jafri M, Langer JC. Hirschsprung-associated inflammatory bowel disease: A multicenter study from the APSA Hirschsprung disease interest group. J Pediatr Surg 2023; 58:856-861. [PMID: 36801072 DOI: 10.1016/j.jpedsurg.2023.01.018] [Citation(s) in RCA: 5] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/19/2022] [Accepted: 01/02/2023] [Indexed: 01/25/2023]
Abstract
BACKGROUND/PURPOSE A small number of Hirschsprung disease (HD) patients develop inflammatory bowel disease (IBD)-like symptoms after pullthrough surgery. The etiology and pathophysiology of Hirschsprung-associated IBD (HD-IBD) remains unknown. This study aims to further characterize HD-IBD, to identify potential risk factors and to evaluate response to treatment in a large group of patients. METHODS Retrospective study of patients diagnosed with IBD after pullthrough surgery between 2000 and 2021 at 17 institutions. Data regarding clinical presentation and course of HD and IBD were reviewed. Effectiveness of medical therapy for IBD was recorded using a Likert scale. RESULTS There were 55 patients (78% male). 50% (n = 28) had long segment disease. Hirschsprung-associated enterocolitis (HAEC) was reported in 68% (n = 36). Ten patients (18%) had Trisomy 21. IBD was diagnosed after age 5 in 63% (n = 34). IBD presentation consisted of colonic or small bowel inflammation resembling IBD in 69% (n = 38), unexplained or persistent fistula in 18% (n = 10) and unexplained HAEC >5 years old or unresponsive to standard treatment in 13% (n = 7). Biological agents were the most effective (80%) medications. A third of patients required a surgical procedure for IBD. CONCLUSION More than half of the patients were diagnosed with HD-IBD after 5 years old. Long segment disease, HAEC after pull through operation and trisomy 21 may represent risk factors for this condition. Investigation for possible IBD should be considered in children with unexplained fistulae, HAEC beyond the age of 5 or unresponsive to standard therapy, and symptoms suggestive of IBD. Biological agents were the most effective medical treatment. LEVEL OF EVIDENCE Level 4.
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Affiliation(s)
- Pattamon Sutthatarn
- Division of General and Thoracic Surgery, The Hospital for Sick Children, Toronto, ON, Canada; Department of Surgery, University of Toronto, Toronto, ON, Canada; Department of Surgery, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok, Thailand
| | - Eveline Lapidus-Krol
- Division of General and Thoracic Surgery, The Hospital for Sick Children, Toronto, ON, Canada; Department of Surgery, University of Toronto, Toronto, ON, Canada
| | - Caitlin Smith
- Department of Surgery, Division of Pediatric and Thoracic Surgery, The University of Washington, Seattle Children's Hospital, Seattle, WA, USA
| | - Ihab Halaweish
- Division of Pediatric Surgery, The Ohio State University College of Medicine, Nationwide Children's Hospital, Columbus, OH, USA
| | - Kristy Rialon
- Department of Pediatric Surgery, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA
| | - Matthew W Ralls
- UMICH University of Michigan Section of Pediatric Surgery, C. S. Mott Children's Hospital, Ann Arbor, MI, USA
| | - Rebecca M Rentea
- Department of Pediatric Surgery, University of Missouri-Kansas City School of Medicine, Children's Mercy Hospital, Kansas City, MO, USA
| | - Mary B Madonna
- Department of Surgery, Rush Medical College, Department of Pediatrics, Division of Pediatric Surgery, Rush University Medical Center, Chicago, IL, USA
| | - Candace Haddock
- Department of Pediatric Surgery, Valley Children's Healthcare, Madera, CA, USA
| | | | - Ankush Gosain
- Division of Pediatric Surgery, Le Bonheur Children's Hospital, University of Tennessee Health Science Center, Children's Foundation Research Institute Memphis, TN, USA
| | - Jason Frischer
- Division of Pediatric General and Thoracic Surgery Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA
| | - Hannah Piper
- Division of Pediatric Surgery, Department of Surgery, Faculty of Medicine, University of British Columbia, BC Children's Hospital, Vancouver, BC, Canada
| | - Allan M Goldstein
- Department of Pediatric Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA
| | - Payam Saadai
- Department of Pediatric Surgery, UC Davis Children's Hospital, UC Davis Medical Center, Sacramento, CA, USA
| | - Megan M Durham
- Division of Pediatric Surgery, Department of Surgery, Emory University School of Medicine, Children's Healthcare of Atlanta/Emory Pediatric Institute, Atlanta, GA, USA
| | - Belinda Dickie
- Department of Surgery, Harvard Medical School, Children's Harvard, Boston, MA, USA
| | - Mubeen Jafri
- Department of Surgery, Division of Pediatric Surgery, Oregon Health and Science University, Portland, OR, USA
| | - Jacob C Langer
- Division of General and Thoracic Surgery, The Hospital for Sick Children, Toronto, ON, Canada; Department of Surgery, University of Toronto, Toronto, ON, Canada.
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25
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Chantakhow S, Tepmalai K, Singhavejsakul J, Tantraworasin A, Khorana J. Prognostic factors of postoperative Hirschsprung-associated enterocolitis: a cohort study. Pediatr Surg Int 2023; 39:77. [PMID: 36622463 DOI: 10.1007/s00383-023-05364-7] [Citation(s) in RCA: 8] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 01/03/2023] [Indexed: 01/10/2023]
Abstract
PURPOSE To identify prognostic factors of postoperative Hirschsprung-associated enterocolitis (HAEC). METHOD A retrospective cohort study of Hirschsprung patients between 2006 and 2021 was conducted. Patients with anorectal malformation and non-definitive surgery were excluded. Associated factors for postoperative HAEC were reported with hazard ratio (HR) and 95% confidence interval (CI). RESULTS Forty-nine patients were excluded due to concurrent anorectal malformation and incomplete data. Of 274 patients, 75 patients (27.4%) had at least one episode of postoperative HAEC. There were 28 patients (37.3%) who had multi-episodes of HAEC. The total episodes of post-operative HAEC in this study were 121 episodes (36.8%). In multivariable survival analysis, significant factors associated with postoperative HAEC were the aganglionic level above sigmoid colon (HR = 3.47, p = 0.023, 95% CI 1.19-10.09), and total colonic aganglionosis (HR = 14.83, p = 0.004, 95% CI 2.33-94.40). The patients who experienced clinical enterocolitis before 2 weeks after surgery significantly developed more postoperative HAEC (HR = 5.32, p = 0.038, % CI 1.09-25.92). The incidence of postoperative HAEC was increase in patients with postoperative obstructive symptoms (48.0%). One patient died due to severe sepsis from postoperative HAEC, while three others required intensive care. CONCLUSIONS The long involvement of aganglionic segment and early postoperative HAEC was significantly associated with postoperative HAEC. Frequent follow-up, parental education, and early treatment are recommended in these individuals, particularly in the first year after surgery.
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Affiliation(s)
- Sireekarn Chantakhow
- Division of Pediatric Surgery, Department of Surgery, Faculty of Medicine, Chiang Mai University Hospital Clinical Surgical Research Center, 110 Intavaroros Road, Muang Chiang Mai District, Chiang Mai, 50200, Thailand.,Faculty of Medicine, Clinical Surgical Research Center, Chiang Mai University, Chiang Mai, Thailand
| | - Kanokkan Tepmalai
- Division of Pediatric Surgery, Department of Surgery, Faculty of Medicine, Chiang Mai University Hospital Clinical Surgical Research Center, 110 Intavaroros Road, Muang Chiang Mai District, Chiang Mai, 50200, Thailand.,Faculty of Medicine, Clinical Surgical Research Center, Chiang Mai University, Chiang Mai, Thailand
| | - Jesda Singhavejsakul
- Division of Pediatric Surgery, Department of Surgery, Faculty of Medicine, Chiang Mai University Hospital Clinical Surgical Research Center, 110 Intavaroros Road, Muang Chiang Mai District, Chiang Mai, 50200, Thailand.,Faculty of Medicine, Clinical Surgical Research Center, Chiang Mai University, Chiang Mai, Thailand
| | - Apichat Tantraworasin
- Faculty of Medicine, Clinical Surgical Research Center, Chiang Mai University, Chiang Mai, Thailand.,Faculty of Medicine, Clinical Epidemiology and Statistical Statistic Center, Chiang Mai University, Chiang Mai, Thailand.,Division of Thoracic Surgery, Department of Surgery, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand
| | - Jiraporn Khorana
- Division of Pediatric Surgery, Department of Surgery, Faculty of Medicine, Chiang Mai University Hospital Clinical Surgical Research Center, 110 Intavaroros Road, Muang Chiang Mai District, Chiang Mai, 50200, Thailand. .,Faculty of Medicine, Clinical Surgical Research Center, Chiang Mai University, Chiang Mai, Thailand. .,Faculty of Medicine, Clinical Epidemiology and Statistical Statistic Center, Chiang Mai University, Chiang Mai, Thailand.
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26
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Margraf RL, Alexander RZ, Fulmer ML, Miller CE, Coupal E, Mao R. Multiple endocrine neoplasia type 2 (MEN2) and RET specific modifications of the ACMG/AMP variant classification guidelines and impact on the MEN2 RET database. Hum Mutat 2022; 43:1780-1794. [PMID: 36251279 DOI: 10.1002/humu.24486] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/20/2022] [Revised: 09/20/2022] [Accepted: 10/04/2022] [Indexed: 01/24/2023]
Abstract
The Multiple Endocrine Neoplasia type 2 (MEN2) RET proto-oncogene database, originally published in 2008, is a comprehensive repository of all publicly available RET gene variations associated with MEN2 syndromes. The variant-specific genotype/phenotype information, age of earliest reported medullary thyroid carcinoma (MTC) onset, and relevant references with a brief summary of findings are cataloged. The ACMG/AMP 2015 consensus statement on variant classification was modified specifically for MEN2 syndromes and RET variants using ClinGen sequence variant interpretation working group recommendations and ClinGen expert panel manuscripts, as well as manuscripts from the American Thyroid Association Guidelines Task Force on Medullary Thyroid Carcinoma and other MEN2 RET literature. The classifications for the 166 single unique variants in the MEN2 RET database were reanalyzed using the MEN2 RET specifically modified ACMG/AMP classification guidelines (version 1). Applying these guidelines added two new variant classifications to the database (likely benign and likely pathogenic) and resulted in clinically significant classification changes (e.g., from pathogenic to uncertain) in 15.7% (26/166) of the original variants. Of those clinically significant changes, the highest percentage of changes, 46.2% (12/26), were changes from uncertain to benign or likely benign. The modified ACMG/AMP criteria with MEN2 RET specifications will optimize and standardize RET variant classifications.
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Affiliation(s)
- Rebecca L Margraf
- ARUP Institute for Clinical and Experimental Pathology®, Salt Lake City, Utah, USA
| | | | - Makenzie L Fulmer
- ARUP Institute for Clinical and Experimental Pathology®, Salt Lake City, Utah, USA.,Department of Pathology, School of Medicine, University of Utah, Salt Lake City, Utah, USA
| | - Christine E Miller
- ARUP Institute for Clinical and Experimental Pathology®, Salt Lake City, Utah, USA
| | - Elena Coupal
- ARUP Institute for Clinical and Experimental Pathology®, Salt Lake City, Utah, USA
| | - Rong Mao
- ARUP Institute for Clinical and Experimental Pathology®, Salt Lake City, Utah, USA.,Department of Pathology, School of Medicine, University of Utah, Salt Lake City, Utah, USA
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27
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Rectal suction biopsy versus incisional rectal biopsy in the diagnosis of Hirschsprung disease. Pediatr Surg Int 2022; 38:1989-1996. [PMID: 36171348 DOI: 10.1007/s00383-022-05246-4] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 09/15/2022] [Indexed: 10/14/2022]
Abstract
BACKGROUND Hirschsprung disease is one of the most common congenital anomalies that affect colorectal function. Rectal biopsy demonstrating the absence of ganglion cells in the affected bowel is the gold standard for diagnosis. Suction and incisional rectal biopsies are appropriate methods for obtaining diagnostic tissue. The goal of this study is to determine if any differences in adequacy exist between suction and incisional rectal biopsies at our institution. METHODS We conducted a retrospective review of suction and incisional rectal biopsies for inadequacy per procedure at a tertiary pediatric hospital. Each procedure for rectal biopsy was also evaluated by a number of biopsies per procedure. We used a two-sample test of proportions to compare the inadequacy of suction vs. incisional biopsies. RESULTS 133 rectal suction biopsy procedures (227 biopsies) and 125 incisional biopsy procedures (140 biopsies) were analyzed. In patients 6 months of age and older, the percentage of inadequate procedures was substantially higher in the suction biopsy group (24.1% vs 0.9%, p < 0.01). CONCLUSIONS A substantially higher proportion of inadequacy was found in the suction rectal biopsy group compared to the incisional cohort among the older patient cohort, suggesting incisional biopsies should be strongly considered as the primary rectal biopsy method in patients older than 6 months.
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28
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Changes in postoperative quality of life of pediatric total colonic aganglionosis patients: effect of pull-through technique. Pediatr Surg Int 2022; 38:1867-1872. [PMID: 36173457 DOI: 10.1007/s00383-022-05239-3] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 09/07/2022] [Indexed: 10/14/2022]
Abstract
AIM To assess mid-/long-term quality of life (QOL) of total colonic aganglionosis (TCA) patients. METHODS Modified pre-existing QOL assessment tools for general lifestyle (GL), bowel function (BF), and mental health (MH) were administered to postoperative TCA patients from five institutions, who were at least 7 years old to compare Duhamel (with pouch) and Swenson/Soave (without pouch) techniques between children (Ch 7-12 years old), teenagers (Tn 13-19), and adults (Ad 20 and over). For MH, caregivers were also interviewed, but separately. Maximum scores were 12 for GL/MH and 18 for BF. RESULTS There were 32 subjects. GL and BF scores increased significantly from Ch (GL 4.8 ± 2.5, BF: 11.3 ± 4.6) to Tn (GL 7.8 ± 2.6, BF 16.2 ± 3.0); scores for MH did not change significantly. Mean caregiver MH scores were significantly lower than mean subject MH scores for all age groups (subject scores: 10.1, 10.7, 10.7 versus caregiver scores: 6.8, 7.8, 8.1 for Ch, Tn, Ad, respectively). PT technique/presence of a pouch did not influence the incidence of enterocolitis or QOL scores. CONCLUSION MH responses showed subjects felt better than caregivers believed. This discrepancy could cause conflict despite steadily improving GL/BF. QOL was unaffected by PT technique/presence of a pouch.
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29
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Zhang Y, Liu Z, Li S, Yang S, Zhao J, Yang T, Li S, Chen Y, Guo W, Hou D, Li Y, Huang J. One-stage transanal endorectal pull-through for Hirschsprung disease: experience with 229 neonates. Pediatr Surg Int 2022; 38:1533-1540. [PMID: 36030350 DOI: 10.1007/s00383-022-05198-9] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 08/10/2022] [Indexed: 11/30/2022]
Abstract
OBJECTIVE To evaluate the safety and efficacy of transanal endorectal pull-through (TEPT) and the long-term outcomes in newborns with Hirschsprung disease (HD). METHODS A total of 229 newborns with HD underwent one-stage TEPT between 2007 and 2020, and the diagnoses were confirmed by rectal biopsy. The perioperative clinical course for all patients was reviewed, and the postoperative short- and long-term outcomes were assessed. RESULTS A total of 229 neonates (187 male and 42 female) had a median age at TEPT of 17 days (range 6-28 days). Sixty-eight patients (29.7%) underwent TEPT combined with an abdominal approach or laparoscopy. Early postoperative complications (using the Clavien-Dindo grading system) were documented in 36 patients (15.7%), and late postoperative complications were noted in 9 patients (3.9%). The follow-up period in the remaining 165 children ranged from 1.2 to 14.0 years (median 5.0 years). A total of 106 of the patients older than four years old took part in an interview about bowel function, and 85 patients (80.2%) had bowel function scores (BFS) ≥ 18. CONCLUSION TEPT is effective and safe for HD in the neonatal period and presents with a low rate of complications and an acceptable outcome.
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Affiliation(s)
- Yanan Zhang
- Department of Neonatal Surgery, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, 56 Nanlishi Road, Beijing, 100045, China
| | - Zhaozhou Liu
- Department of Neonatal Surgery, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, 56 Nanlishi Road, Beijing, 100045, China
| | - Shuangshuang Li
- Department of Neonatal Surgery, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, 56 Nanlishi Road, Beijing, 100045, China
| | - Shen Yang
- Department of Neonatal Surgery, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, 56 Nanlishi Road, Beijing, 100045, China
| | - Jiawei Zhao
- Department of Neonatal Surgery, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, 56 Nanlishi Road, Beijing, 100045, China
| | - Ting Yang
- Department of Neonatal Surgery, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, 56 Nanlishi Road, Beijing, 100045, China
| | - Siqi Li
- Department of Neonatal Surgery, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, 56 Nanlishi Road, Beijing, 100045, China
| | - Yongwei Chen
- Department of Neonatal Surgery, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, 56 Nanlishi Road, Beijing, 100045, China
| | - Weihong Guo
- Department of Neonatal Surgery, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, 56 Nanlishi Road, Beijing, 100045, China
| | - Dawei Hou
- Department of Neonatal Surgery, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, 56 Nanlishi Road, Beijing, 100045, China
| | - Yingzi Li
- Department of Neonatal Surgery, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, 56 Nanlishi Road, Beijing, 100045, China
| | - Jinshi Huang
- Department of Neonatal Surgery, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, 56 Nanlishi Road, Beijing, 100045, China.
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30
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Zhang Z, Li B, Jiang Q, Li Q, Pierro A, Li L. Hirschsprung-Associated Enterocolitis: Transformative Research from Bench to Bedside. Eur J Pediatr Surg 2022; 32:383-390. [PMID: 35649434 DOI: 10.1055/s-0042-1745780] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/04/2022]
Abstract
Hirschsprung disease (HSCR) is a congenital disease that is characterized by the absence of intrinsic ganglion cells in the submucosal and myenteric plexuses of the distal colon and is the most common cause of congenital intestinal obstruction. Hirschsprung-associated enterocolitis (HAEC) is a life-threatening complication of HSCR, which can occur either before or after surgical resection of the aganglionic bowel. Even though HAEC is a leading cause of death in HSCR patients, its etiology and pathophysiology remain poorly understood. Various factors have been associated with HAEC, including the mucus barrier, microbiota, immune function, obstruction of the colon, and genetic variations. In this review, we examine our current mouse model of HAEC and how it informs our understanding of the disease. We also describe current emerging research that highlights the potential future of HAEC treatment.
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Affiliation(s)
- Zhen Zhang
- Department of General Surgery, Capital Institute of Pediatrics, Beijing, Beijing, China
| | - Bo Li
- Translational Medicine Program, Division of General and Thoracic Surgery, The Hospital for Sick Children, Toronto, Ontario, Canada
| | - Qian Jiang
- Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China
| | - Qi Li
- Department of General Surgery, Capital Institute of Pediatrics, Beijing, Beijing, China
| | - Agostino Pierro
- Department of Paediatric Surgery, The Hospital for Sick Children, Toronto, Ontario, Canada
| | - Long Li
- Department of General Surgery, Capital Institute of Pediatrics, Beijing, Beijing, China
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31
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Beltman L, Roorda D, Backes M, Oosterlaan J, van Heurn LWE, Derikx JPM. Risk factors for short-term complications graded by Clavien-Dindo after transanal endorectal pull-through in patients with Hirschsprung disease. J Pediatr Surg 2022; 57:1460-1466. [PMID: 34452757 DOI: 10.1016/j.jpedsurg.2021.07.024] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/06/2021] [Revised: 07/22/2021] [Accepted: 07/28/2021] [Indexed: 12/15/2022]
Abstract
BACKGROUND Transanal endorectal pull-through (TERPT) is a common surgical procedure in Hirschsprung disease (HD). Aim of this study was to gain insight in the prevalence and severity of postoperative complications within 30-days after TERPT and to identify patient and perioperative characteristics, associated with the development of short-term postoperative complications. METHODS This study retrospectively analyzed data of children with HD and treated with TERPT in our center between 2005 and 2020. Complications emerging within 30-days after surgery were assessed using Clavien-Dindo (CD). Patient and perioperative characteristic as predictor of a complication were tested using (multivariable) logistic regression analysis. RESULTS Twenty-two of 106 (21%) included patients (17 transanal only; 77 laparoscopic-assisted; 12 laparotomy-assisted) developed 35 complications, including two patients (1.8%) that deceased. We suspect postoperative rectal irrigation leading to perforation as cause of death in both patients. Six patients (6%) had a minor (CD<3) and 16 patients (15%) a major (CD≥3) complication. Anastomotic leakage (n = 4, 11%), abdominal abscess (n = 3, 9%) and anastomotic stricture (n = 3,9%) occurred most frequently. Predictive factors for developing a complication were older age at time of surgery (OR 1.03 1.00-1.01, p = 0.041), laparotomy-assisted surgery (OR 12.65, CI 1.712-93.07, p = 0.013) and long-segment HD (OR 4.09 CI 1.09-15.39, p = 0.037). CONCLUSIONS We found a CD-graded short-term postoperative complication rate of 21% following TERPT, reporting anastomotic complications most frequently. In patients at risk a diverting stoma should be considered. We suspect postoperative rectal irrigation being the cause of two lethal perforations. Therefore, we recommend to place a rectal transanastomotic tube in all patients receiving TERPT. LEVEL OF EVIDENCE Level III.
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Affiliation(s)
- Lieke Beltman
- Emma Children's Hospital, Amsterdam UMC, University of Amsterdam and Vrije Universiteit Amsterdam, Department of Pediatric Surgery, Amsterdam Gastroenterology and Metabolism Research Institute and Amsterdam Reproduction and Development Research Institute, Amsterdam, Netherlands; Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Emma Children's Hospital Amsterdam UMC Follow-Me Program & Emma Neuroscience Group, Department of Pediatrics, Amsterdam Reproduction and Development Research Institute, Amsterdam, Netherlands.
| | - Daniëlle Roorda
- Emma Children's Hospital, Amsterdam UMC, University of Amsterdam and Vrije Universiteit Amsterdam, Department of Pediatric Surgery, Amsterdam Gastroenterology and Metabolism Research Institute and Amsterdam Reproduction and Development Research Institute, Amsterdam, Netherlands; Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Emma Children's Hospital Amsterdam UMC Follow-Me Program & Emma Neuroscience Group, Department of Pediatrics, Amsterdam Reproduction and Development Research Institute, Amsterdam, Netherlands
| | - Manouk Backes
- Emma Children's Hospital, Amsterdam UMC, University of Amsterdam and Vrije Universiteit Amsterdam, Department of Pediatric Surgery, Amsterdam Gastroenterology and Metabolism Research Institute and Amsterdam Reproduction and Development Research Institute, Amsterdam, Netherlands
| | - Jaap Oosterlaan
- Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Emma Children's Hospital Amsterdam UMC Follow-Me Program & Emma Neuroscience Group, Department of Pediatrics, Amsterdam Reproduction and Development Research Institute, Amsterdam, Netherlands
| | - L W Ernest van Heurn
- Emma Children's Hospital, Amsterdam UMC, University of Amsterdam and Vrije Universiteit Amsterdam, Department of Pediatric Surgery, Amsterdam Gastroenterology and Metabolism Research Institute and Amsterdam Reproduction and Development Research Institute, Amsterdam, Netherlands
| | - Joep P M Derikx
- Emma Children's Hospital, Amsterdam UMC, University of Amsterdam and Vrije Universiteit Amsterdam, Department of Pediatric Surgery, Amsterdam Gastroenterology and Metabolism Research Institute and Amsterdam Reproduction and Development Research Institute, Amsterdam, Netherlands
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Aguirre CPM, Vasconcelos PDSP, Caldas JPDS, Lomazi EA, Bellomo-Brandão MA. INDUCED PROCTOCOLITIS - ORAL FOOD CHALLENGE SHOULD BE DONE TO CONFIRM THE DIAGNOSIS OF COW'S MILK ALLERGY IN NEONATES? ARQUIVOS DE GASTROENTEROLOGIA 2022; 59:365-369. [PMID: 36102433 DOI: 10.1590/s0004-2803.202203000-66] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 01/16/2022] [Accepted: 07/04/2022] [Indexed: 06/15/2023]
Abstract
BACKGROUND Suspicion of food protein-induced proctocolitis based on empirical understanding of rectal bleeding can lead to misdiagnosis. OBJECTIVE to verify clinical and evaluative characteristics of patients who presented neonatal rectal bleeding and were on a restricted cow's milk diet. METHODS A cross-sectional retrospective study included patients followed up in a tertiary care center, who presented rectal bleeding in the neonatal period. The analyzed data included gender, gestational age, type of delivery, use of antibiotics during the last trimester of pregnancy, use of parenteral nutrition before the first manifestation, use of mechanical ventilation, initial clinical manifestations associated with rectal bleeding, diet before the first manifestation, period of elimination diet, oral food challenge (OFC) results and symptoms presented in cases of positive OFC. Fisher's exact test and Mann-Whitney test were used to analyze the data. The level of significance was set to 5%. RESULTS Forty-two patients were selected: 30 preterm infants, 34 cesarean deliveries, 10 exclusively breastfed patients before rectal bleeding. Median age at OFC was 6.3 months old. Median of length of the elimination period before OFC was 5.9 months. OFC was negative in 33/42 (79%) patients and positive in 9/42 (21%). There was no association between OFC results and the evaluated data. The main symptom observed in patients with positive OFC was blood in stools. CONCLUSION OFC was negative in most cases of suspected cow's milk allergy due to rectal bleeding in neonates, most of them with a history of prematurity.
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Affiliation(s)
- Camila Paula Munhoz Aguirre
- Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Pediatria, Campinas, SP, Brasil
| | | | | | - Elizete Aparecida Lomazi
- Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Pediatria, Campinas, SP, Brasil
| | - Maria Angela Bellomo-Brandão
- Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Pediatria, Campinas, SP, Brasil
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Aberrant high expression of the TET1 gene in Hirschsprung's disease. Pediatr Neonatol 2022; 63:348-354. [PMID: 35650007 DOI: 10.1016/j.pedneo.2022.03.003] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/18/2021] [Revised: 02/17/2022] [Accepted: 03/10/2022] [Indexed: 11/23/2022] Open
Abstract
BACKGROUND The pathogenesis of Hirschsprung's disease (HSCR) remains unclear but might involve genes participating in neural crest development. Gene methylation controls the expression of many genes and is involved in the development and migration of neural crest cells, but the involvement of demethylation in HSCR is unknown. This study aimed to investigate the expression of ten-eleven translocation methylcytosine dioxygenase 1 (TET1) (a demethylation protein) in patients with HSCR. METHODS This is a retrospective study of surgical specimens from paediatric patients with and without HSCR (e.g., intussusception and incarcerated hernia) obtained from 07/2015 to 08/2017. TET1 expression was determined by qRT-PCR, western blotting, and immunohistochemistry. The levels of 5-hydroxymethylcytosine were determined by the dot blot assay. RESULTS The specimens of 35 patients with HSCR and 25 controls were collected. The median TET1 mRNA expression values were 1.028 [HSCR-stenotic (S)], 0.908 [HSCR-dilated (D)], and 0.467 (control) (HSCR-S vs. control: P = 0.002; HSCR-D vs. control: P = 0.008; HSCR-S vs. HSCR-D: P = 0.44). TET1 protein levels followed a similar pattern. The intensity of immunostaining identified higher expression of TET1 in HSCR colon tissues compared with control tissues. The 5-hmC levels in HSCR stenotic segment samples were significantly higher than those in controls. CONCLUSION The expression of TET1 is higher in paediatric patients with HSCR than in controls. DNA demethylation initiated by TET1 may be related to HSCR, which demonstrates that TET1 may play a role in the development of HSCR.
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Beltman L, Windster JD, Roelofs JJTH, van der Voorn JP, Derikx JPM, Bakx R. Diagnostic accuracy of calretinin and acetylcholinesterase staining of rectal suction biopsies in Hirschsprung disease examined by unexperienced pathologists. Virchows Arch 2022; 481:245-252. [PMID: 35513609 PMCID: PMC9343274 DOI: 10.1007/s00428-022-03334-3] [Citation(s) in RCA: 13] [Impact Index Per Article: 4.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/14/2022] [Revised: 04/26/2022] [Accepted: 04/27/2022] [Indexed: 11/24/2022]
Abstract
Rectal suction biopsy (RSB) is a gold standard for diagnosing Hirschsprung disease (HD). Calretinin staining of RSB is increasingly used by experienced pathologists due to non-complex examination and comparable diagnostic accuracy with acetylcholinesterase (AChE). However, the diagnostic accuracy of calretinin examined by unexperienced pathologists remains to be elucidated. Therefore, we aim to compare diagnostic accuracy of calretinin with AChE on RSB for diagnosing HD when examined by unexperienced pathologists. We prospectively analyzed sections from RSB stained with AChE + HE and calretinin. Blinded examination was done by five unexperienced pathologists (pathology residents) and three experienced pathologists (senior pediatric gastro-enterology pathologists) assessing for the presence of HD. Cases for the study included ones proven to be HD on resection specimens and cases without HD. Diagnostic accuracy was determined calculating area under the curve (AUC), sensitivity, specificity, likelihood ratio, and posttest probability. Fleiss’ kappa analysis was performed to assess interobserver agreement between reviewers. Eleven of 18 included patients (61%) were diagnosed with HD. Comparing the diagnostic accuracy of unexperienced pathologists, calretinin versus AChE + HE showed sensitivity of 80.0% versus 74.5% and specificity of 100% versus 65.4%, AUC of 0.87 (0.78–0.96) versus 0.59 (0.45–0.72). Unexperienced pathologists showed substantial agreement with calretinin (kappa 0.72 [0.61–0.84]) and fair agreement with AChE + HE (kappa 0.34 [0.23–0.44]). We found calretinin having higher diagnostic accuracy in diagnosing HD compared to AChE + HE when examined by unexperienced pathologists. Therefore, we recommend to use calretinin as the standard technique for staining RSB in diagnosing HD.
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Affiliation(s)
- L Beltman
- Department of Paediatric Surgery, Emma Children's Hospital, Amsterdam UMC, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. .,Department of Gastroenterology and Hepatology, Amsterdam Gastroenterology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.
| | - J D Windster
- Department of Pediatric Surgery and Intensive Care, Erasmus University Medical Center, Sophia Children's Hospital, Rotterdam, The Netherlands
| | - J J T H Roelofs
- Department of Pathology, Amsterdam UMC, Amsterdam, The Netherlands
| | | | - J P M Derikx
- Department of Paediatric Surgery, Emma Children's Hospital, Amsterdam UMC, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.,Department of Gastroenterology and Hepatology, Amsterdam Gastroenterology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands
| | - R Bakx
- Department of Paediatric Surgery, Emma Children's Hospital, Amsterdam UMC, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.,Department of Gastroenterology and Hepatology, Amsterdam Gastroenterology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands
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Conces MR, Beach S, Pierson CR, Prasad V. Submucosal Nerve Diameter in the Rectum Increases With Age: An Important Consideration for the Diagnosis of Hirschsprung Disease. Pediatr Dev Pathol 2022; 25:263-269. [PMID: 34791945 DOI: 10.1177/10935266211049689] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/15/2022]
Abstract
INTRODUCTION Hypertrophic submucosal nerves, defined as ≥40 µm in diameter, are considered supportive of a diagnosis of HSCR, but the effect of age on nerve diameter has not been well-studied. We sought to determine the distribution of the largest nerve diameter in ganglionic rectal biopsies and the significance of hypertrophic submucosal nerves in the diagnosis of Hirschsprung disease (HSCR) based on age. METHODS Rectal biopsies performed in the evaluation of HSCR were retrospectively reviewed from 179 patients (151 ganglionic biopsies, 28 aganglionic biopsies), and the diameter of the largest submucosal nerve was measured. RESULTS In non-Hirschsprung disease (non-HSCR) biopsies, submucosal nerve diameter increased with age. In patients <1 year, the average diameter was 34.1 ± 11.6 µm but increased to 50.8 ± 17.3 µm after 1 year of age. Submucosal nerves ≥40 µm in diameter were significantly associated with HSCR across all ages [HSCR = 25/28 (89.3%) vs non-HSCR = 59/151 (39.1%), p < 0.0001] and remained significant in patients <1 year of age [HSCR = 22/24 (91.7%) vs non-HSCR = 19/91 (20.9%), p < 0.0001]. CONCLUSIONS The diameter of submucosal nerves increases with age, and ≥40 µm nerves are common after 1 year of age.
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Affiliation(s)
- Miriam R Conces
- Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio.,Department of Pathology, 2647The Ohio State University College of Medicine, Columbus, Ohio
| | - Sarah Beach
- Department of Biomedical Education and Anatomy, Division of Anatomy, 2647The Ohio State University, Columbus, Ohio
| | - Christopher R Pierson
- Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio.,Department of Pathology, 2647The Ohio State University College of Medicine, Columbus, Ohio.,Department of Biomedical Education and Anatomy, Division of Anatomy, 2647The Ohio State University, Columbus, Ohio
| | - Vinay Prasad
- Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio.,Department of Pathology, 2647The Ohio State University College of Medicine, Columbus, Ohio
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Risk factors of enterostomy in neonates with Hirschsprung disease. Int J Colorectal Dis 2022; 37:1127-1132. [PMID: 35449241 DOI: 10.1007/s00384-022-04151-5] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 04/17/2022] [Indexed: 02/04/2023]
Abstract
PURPOSE This study was aiming to explore the risk factors contributing to enterostomy in neonates with Hirschsprung disease (HD) to provide a reference for clinicians to make treatment decisions. METHODS Medical records of 284 patients diagnosed with HD during the neonatal period were retrospectively analyzed. The patients were divided into 2 groups based on operative intervention (one stage transanal pull-through, versus enterotomy and staged transanal pull-through). Univariate and multivariable logistic regression analysis was performed to identify risk factors contributing to enterostomy. RESULTS The incidence of enterostomy was 12.0% (34/284) in neonates with HD. Univariate and multivariate logistic regression analysis showed that serum albumin < 25.4 g/L, radiographic results as subphrenic free air, and level of aganglionosis with long-segment or total colonic aganglionosis (TCA) were independent risk factors of enterostomy in neonates, with OR of 42.045 (6.131, 288.319), 285.558 (26.651, 3059.694) and 15.573 (4.319, 56.157), respectively. CONCLUSIONS The low serum albumin level, bowel perforation, and level of aganglionosis with long-segment or TCA could influence the occurrence of enterostomy in neonates with HD.
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Ahmad H, Yacob D, Halleran DR, Gasior AC, Lorenzo CD, Wood RJ, Langer JC, Levitt MA. Evaluation and treatment of the post pull-through Hirschsprung patient who is not doing well; Update for 2022. Semin Pediatr Surg 2022; 31:151164. [PMID: 35690463 DOI: 10.1016/j.sempedsurg.2022.151164] [Citation(s) in RCA: 20] [Impact Index Per Article: 6.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/18/2022]
Abstract
After operative intervention for Hirschsprung disease (HD) a child should thrive, be fecally continent, and avoid recurrent episodes of abdominal distention and enterocolitis. This is unfortunately not the case for a significant number of patients who struggle following their pull-through procedure. Many clinicians are puzzled by these outcomes as they can occur in patients who they believe have had a technically satisfactory described operation. This review presents an organized approach to the evaluation and treatment of the post HD pull-through patient who is not doing well. Patients with HD who have problems after their initial operation can have: (1) fecal incontinence, (2) obstructive symptoms, and (3) recurrent episodes of enterocolitis (a more severe subset of obstructive symptoms). After employing a systematic diagnostic approach, successful treatments can be implemented in almost every case. Patients may need medical management (behavioral interventions, dietary changes, laxatives, or mechanical emptying of the colon), a reoperation when a specific anatomic or pathologic cause is identified, or botulinum toxin when non-relaxing sphincters are the cause of the obstructive symptoms or recurrent enterocolitis.
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Affiliation(s)
- Hira Ahmad
- Division of Pediatric General and Thoracic Surgery, Seattle Children's Hospital, Seattle, WA, United States
| | - Desale Yacob
- Department of Pediatric Colorectal and Pelvic Reconstruction Surgery, Nationwide Children's Hospital, Columbus, OH, United States; Division of Gastroenterology, Hepatology and Nutrition, Nationwide Children's Hospital, Columbus, OH, United States
| | - Devin R Halleran
- Department of Pediatric Colorectal and Pelvic Reconstruction Surgery, Nationwide Children's Hospital, Columbus, OH, United States
| | - Alessandra C Gasior
- Department of Pediatric Colorectal and Pelvic Reconstruction Surgery, Nationwide Children's Hospital, Columbus, OH, United States
| | - Carlo Di Lorenzo
- Department of Pediatric Colorectal and Pelvic Reconstruction Surgery, Nationwide Children's Hospital, Columbus, OH, United States; Division of Gastroenterology, Hepatology and Nutrition, Nationwide Children's Hospital, Columbus, OH, United States
| | - Richard J Wood
- Department of Pediatric Colorectal and Pelvic Reconstruction Surgery, Nationwide Children's Hospital, Columbus, OH, United States
| | - Jacob C Langer
- Division of General and Thoracic Surgery, Department of Surgery, University of Toronto, Hospital for Sick Children, Toronto, Canada
| | - Marc A Levitt
- Division of Colorectal and Pelvic Reconstruction, Children's National Hospital, Washington, DC, United States.
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Anorectal malformation and Hirschsprung disease in an otherwise healthy infant. JOURNAL OF PEDIATRIC SURGERY CASE REPORTS 2022. [DOI: 10.1016/j.epsc.2022.102203] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/17/2022] Open
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Neonatal Gastrointestinal Emergencies: A Radiological Review. Arch Pediatr 2022; 29:159-170. [PMID: 35249799 PMCID: PMC8976780 DOI: 10.1016/j.arcped.2022.01.016] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/29/2021] [Revised: 12/10/2021] [Accepted: 01/30/2022] [Indexed: 11/23/2022]
Abstract
BACKGROUND Abdominal emergencies in neonates require surgical management in almost all cases and complications may include bowel perforation, sepsis, shock, and even death. Radiological imaging has become a very important aid in the clinical setting as it shortens time to diagnosis. OBJECTIVE The objective of this review is to discuss the more prevalent neonatal gastrointestinal emergencies, review appropriate imaging options, and illustrate common radiological presentations of these entities. CONCLUSION Despite advancements in imaging techniques, it is important to keep in mind that neonates have a higher susceptibility to the adverse effects of ionizing radiation, and therefore radiography and ultrasonography remain the main diagnostic modalities for ruling out the diseases with the worst prognosis. Other modalities (fluoroscopy, computed tomography, and magnetic resonance imaging) may have limited use in very specific conditions. All providers in an emergency department should be familiar with the basic radiological findings that may indicate a gastrointestinal emergency, especially in health institutions that do not have 24-h radiologist coverage.
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Verkuijl SJ, Meinds RJ, van der Steeg AF, van Gemert WG, de Blaauw I, Witvliet MJ, Sloots CE, van Heurn E, Vermeulen KM, Trzpis M, Broens PM. Functional Outcomes After Surgery for Total Colonic, Long-Segment, Versus Rectosigmoid Segment Hirschsprung Disease. J Pediatr Gastroenterol Nutr 2022; 74:348-354. [PMID: 34775429 PMCID: PMC8860201 DOI: 10.1097/mpg.0000000000003355] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/11/2021] [Accepted: 10/10/2021] [Indexed: 12/14/2022]
Abstract
OBJECTIVES Knowledge on long-term outcomes in patients with Hirschsprung disease is progressing. Nevertheless, differences in outcomes according to aganglionic lengths are unclear. We compared long-term bowel function and generic quality of life in Hirschsprung patients with total colonic or long-segment versus rectosigmoid aganglionosis. METHODS In this nationwide, cross-sectional study participants with proven Hirschsprung disease received the Defecation and Fecal Continence questionnaire, and the Child Health Questionnaire Child Form-87, or the WHO Quality of Life-100. We excluded deceased patients, patients who were younger than 8 years, lived abroad, had a permanent enterostomy, or were intellectually impaired. RESULTS The study population (n = 334) was operated for rectosigmoid (83.9%), long-segment (8.7%), or total colonic aganglionosis (7.5%). Fecal incontinence in general was not significantly different between the three groups, but liquid fecal incontinence was significantly associated with total colonic aganglionosis (odds ratio [OR] = 6.00, 95% confidence interval [CI] 2.07-17.38, P = 0.001). Regarding constipation, patients with total colonic or long-segment aganglionosis were less likely to suffer from constipation than the rectosigmoid group (OR = 0.21, 95% CI, 0.05-0.91, P = 0.038 and OR = 0.11, 95% CI, 0.01-0.83, P = 0.032). Quality of life was comparable between the three groups, except for a lower physical score in children with total colonic aganglionosis (P = 0.016). CONCLUSIONS Over time Hirschsprung patients with total colonic or long-segment aganglionosis do not suffer from worse fecal incontinence in general. A difference in stool consistency may underlie the association between liquid fecal incontinence and total colonic aganglionosis and constipation in patients with rectosigmoid aganglionosis. Despite these differences, generic quality of life is comparable on reaching adulthood.
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Affiliation(s)
- Sanne J. Verkuijl
- Department of Surgery, Division of Pediatric Surgery
- Department of Surgery, Anorectal Physiology Laboratory, University of Groningen, University Medical Center Groningen, Groningen
| | - Rob J. Meinds
- Department of Surgery, Anorectal Physiology Laboratory, University of Groningen, University Medical Center Groningen, Groningen
- Department of Gastroenterology and Hepatology, Medisch Spectrum Twente, Enschede
| | | | - Wim G. van Gemert
- Department of Pediatric Surgery, University Medical Centre Maastricht, University of Maastricht, Maastricht
| | - Ivo de Blaauw
- Department of Surgery, Division of Pediatric Surgery, Radboudumc–Amalia Children's Hospital, Nijmegen
| | - Marieke J. Witvliet
- Department of Pediatric Surgery, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht
| | - Cornelius E.J. Sloots
- Department of Pediatric Surgery, Erasmus Medical Centre, Sophia Children's Hospital, Rotterdam
| | - Ernst van Heurn
- Department of Pediatric Surgery, Emma Children's Hospital, Academic Medical Centre and VU University Medical Centre, Amsterdam
| | - Karin M. Vermeulen
- Department of Epidemiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Monika Trzpis
- Department of Surgery, Anorectal Physiology Laboratory, University of Groningen, University Medical Center Groningen, Groningen
| | - Paul M.A. Broens
- Department of Surgery, Division of Pediatric Surgery
- Department of Surgery, Anorectal Physiology Laboratory, University of Groningen, University Medical Center Groningen, Groningen
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Jaroy EG, Emblem R, Reims HM, Mai TT, Risa GT, Ougland R. Evaluation of diagnostic factors used to refer children with constipation for rectal biopsies. Int J Colorectal Dis 2022; 37:597-605. [PMID: 34882271 PMCID: PMC8885502 DOI: 10.1007/s00384-021-04069-4] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 11/18/2021] [Indexed: 02/04/2023]
Abstract
PURPOSE Children with constipation and suspected Hirschsprung's disease are referred for rectal biopsy. Since this is an invasive procedure, appropriate indications should be applied to minimize the number of "unnecessary" biopsies. METHODS We reviewed all constipated children who underwent a rectal biopsy to diagnose a possible Hirschsprung's disease at a tertiary referral hospital over a 6-year period (2013-2018). We registered clinical and demographic factors in these children and conducted correlation and multivariate regression analysis to evaluate the relation between these factors and a diagnosis of Hirschsprung's disease. RESULTS We identified 225 children, aged 0-17 years. In total, Hirschsprung's disease was diagnosed in only 49/225 (22%). Among the 49 children with Hirschsprung's disease, 29 (59%) were diagnosed in the neonatal period. Among girls, HD was confirmed in only 10/101 (10%) children, and only 1 of these 10 girls was older than 6 months at the time of the biopsy. The following factors correlated significantly with Hirschsprung's disease diagnosis in children older than 1 month: "male sex", "failure to thrive", "gross abdominal distention plus vomiting" and "fulfils the Rome 4 criteria for functional constipation". CONCLUSION In children referred for rectal biopsy, the factors most indicative of Hirschsprung's disease were "male sex", "failure to thrive", "gross abdominal distention plus vomiting" and "fulfils the Rome 4 criteria for functional constipation". Notably, the prevalence of Hirschsprung's disease decreased with the increasing age of the children. Girls referred for a biopsy rarely had Hirschsprung's disease, especially those older than 1 month.
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Affiliation(s)
- Emilie G. Jaroy
- grid.55325.340000 0004 0389 8485Department of Pediatric Surgery, Oslo University Hospital, 0424 Rikshospitalet, Norway ,grid.55325.340000 0004 0389 8485Department of Microbiology, Oslo University Hospital, 0372 Rikshospitalet, Norway
| | - Ragnhild Emblem
- grid.55325.340000 0004 0389 8485Department of Pediatric Surgery, Oslo University Hospital, 0424 Rikshospitalet, Norway ,grid.5510.10000 0004 1936 8921Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, 0372 Oslo, Norway
| | - Henrik M. Reims
- grid.55325.340000 0004 0389 8485Department of Pathology, Oslo University Hospital, 0424 Rikshospitalet, Norway
| | - The Tien Mai
- grid.5510.10000 0004 1936 8921Oslo Centre for Biostatistics and Epidemiology, Department of Biostatistics, University of Oslo, 0372 Oslo, Norway
| | - Gabriel T. Risa
- grid.83440.3b0000000121901201MRC-Laboratory for Molecular Cell Biology, University College London (UCL), London, UK
| | - Rune Ougland
- grid.55325.340000 0004 0389 8485Department of Microbiology, Oslo University Hospital, 0372 Rikshospitalet, Norway
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Judd-Glossy L, Ariefdjohan M, Ketzer J, Matkins K, Schletker J, Krause A, Simmons H, Pena A, De La Torre L, Bischoff A. Considering the value of online support groups for colorectal conditions: perspectives from caregivers and adult patients. Pediatr Surg Int 2022; 38:31-42. [PMID: 34562117 PMCID: PMC8475481 DOI: 10.1007/s00383-021-05021-x] [Citation(s) in RCA: 8] [Impact Index Per Article: 2.7] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 09/01/2021] [Indexed: 11/25/2022]
Abstract
PURPOSE To evaluate the benefits of participating in an online support group for caregivers of children with a colorectal condition or adult patients with a similar condition. METHODS An electronic survey was administered to members of an international online support group (18 items for caregivers; 15 for patients). Items included demographics, medical diagnosis, potential benefits, and overall experiences in the group. Quantitative results were summarized as descriptive trends, while qualitative responses were summarized thematically. RESULTS Respondents (102 caregivers, 6 patients) were primarily female, 35-44 years old, Caucasian, and resided in the United States. Most respondents learned about the support group from medical providers or online search. Cited benefits included learning information, gaining support, forming connections through shared experience, and utilizing a unique resource. Being a member of the group was helpful to respondents, improved their mental health and access to health information, and they would recommend the group to others. CONCLUSION Participation in online support groups offers educational and emotional benefits to patients/caregivers which complements the medical support from their colorectal teams. Thus, colorectal providers need to be aware of the availability and potential benefits of these groups, and encourage their patients/caregivers to be actively involved.
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Affiliation(s)
- Laura Judd-Glossy
- Department of Psychiatry, Child and Adolescent Mental Health Division, University of Colorado Anschutz Medical Campus, Aurora, CO, 80045, USA.
- Pediatric Mental Health Institute, Children's Hospital Colorado, Aurora, CO, USA.
- International Center for Colorectal and Urogenital Care, Children's Hospital Colorado, Aurora, CO, USA.
| | - Merlin Ariefdjohan
- Department of Psychiatry, Child and Adolescent Mental Health Division, University of Colorado Anschutz Medical Campus, Aurora, CO, 80045, USA
- Pediatric Mental Health Institute, Children's Hospital Colorado, Aurora, CO, USA
| | - Jill Ketzer
- International Center for Colorectal and Urogenital Care, Children's Hospital Colorado, Aurora, CO, USA
| | - Kristina Matkins
- International Center for Colorectal and Urogenital Care, Children's Hospital Colorado, Aurora, CO, USA
| | - Julie Schletker
- International Center for Colorectal and Urogenital Care, Children's Hospital Colorado, Aurora, CO, USA
| | - Amy Krause
- International Center for Colorectal and Urogenital Care, Children's Hospital Colorado, Aurora, CO, USA
| | - Hope Simmons
- International Center for Colorectal and Urogenital Care, Children's Hospital Colorado, Aurora, CO, USA
| | - Alberto Pena
- International Center for Colorectal and Urogenital Care, Children's Hospital Colorado, Aurora, CO, USA
| | - Luis De La Torre
- International Center for Colorectal and Urogenital Care, Children's Hospital Colorado, Aurora, CO, USA
| | - Andrea Bischoff
- International Center for Colorectal and Urogenital Care, Children's Hospital Colorado, Aurora, CO, USA
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Ahmad H, Levitt MA, Yacob D, Halleran DR, Gasior AC, Di Lorenzo C, Wood RJ, Langer JC. Evaluation and Management of Persistent Problems After Surgery for Hirschsprung Disease in a Child. Curr Gastroenterol Rep 2021; 23:18. [PMID: 34633517 DOI: 10.1007/s11894-021-00819-0] [Citation(s) in RCA: 19] [Impact Index Per Article: 4.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 08/23/2021] [Indexed: 10/20/2022]
Abstract
PURPOSE OF REVIEW Ideally, after operative intervention, a child born with Hirschsprung disease (HD) should thrive, achieve fecal continence, and avoid recurrent episodes of abdominal distention and enterocolitis. However, a significant number of patients continue to struggle following their pull-through procedure. The purpose of this review is to present an organized and practical approach to the evaluation and management of the symptomatic patient post pull-through operation for HD. RECENT FINDINGS Children diagnosed with HD who are not doing well after their initial operation can be categorized in three distinct groups: (1) those that have fecal incontinence, (2) those with obstructive symptoms, and (3) those with recurrent episodes of enterocolitis. It is important to have a systematic diagnostic approach for these patients based on a comprehensive protocol. All three of these patient groups can be treated with a combination of either medical management, reoperation when a specific anatomic or pathologic etiology is identified, or botulinum toxin for non-relaxing sphincters contributing to the obstructive symptoms or recurrent enterocolitis. For patients not doing well after their initial pull-through, a systematic workup should be employed to determine the etiology. Once identified, a multidisciplinary and organized approach to management of the symptomatic patients can alleviate most post pull-through symptoms.
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Affiliation(s)
- Hira Ahmad
- Department of Pediatric Colorectal and Pelvic Reconstruction Surgery, Nationwide Children's Hospital, Columbus, Ohio, USA
| | - Marc A Levitt
- Children's National Colorectal Center, Division of Colorectal and Pelvic Reconstructive Surgery, Children's National Hospital, Washington, District of Columbia, USA
| | - Desale Yacob
- Department of Pediatric Colorectal and Pelvic Reconstruction Surgery, Nationwide Children's Hospital, Columbus, Ohio, USA.,Division of Gastroenterology, Hepatology and Nutrition, Nationwide Children's Hospital, Columbus, Ohio, USA
| | - Devin R Halleran
- Department of Pediatric Colorectal and Pelvic Reconstruction Surgery, Nationwide Children's Hospital, Columbus, Ohio, USA
| | - Alessandra C Gasior
- Department of Pediatric Colorectal and Pelvic Reconstruction Surgery, Nationwide Children's Hospital, Columbus, Ohio, USA.,Department of Colorectal Surgery, The Ohio State University, Columbus, Ohio, USA
| | - Carlo Di Lorenzo
- Department of Pediatric Colorectal and Pelvic Reconstruction Surgery, Nationwide Children's Hospital, Columbus, Ohio, USA.,Division of Gastroenterology, Hepatology and Nutrition, Nationwide Children's Hospital, Columbus, Ohio, USA
| | - Richard J Wood
- Department of Pediatric Colorectal and Pelvic Reconstruction Surgery, Nationwide Children's Hospital, Columbus, Ohio, USA
| | - Jacob C Langer
- Division of General and Thoracic Surgery, Hospital for Sick Children, Department of Surgery, University of Toronto, Toronto, Canada.
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Song Y, Yang C, Wang H. Tuberculosis in an infant with Hirschsprung-associated enterocolitis: a case report. J Int Med Res 2021; 49:3000605211043412. [PMID: 34551624 PMCID: PMC8485295 DOI: 10.1177/03000605211043412] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/05/2023] Open
Abstract
Hirschsprung-associated enterocolitis (HAEC) is a serious and life-threatening condition, and atypical tuberculosis (TB) associated with HAEC is even more serious. A male newborn aged 4 days was diagnosed with Hirschsprung disease and transanal Soave pull-through was performed at 4 months old. Six months later, he suffered from enterocolitis. Although he was treated with multiple broad-spectrum antibiotics for 2 weeks, he developed a fever without any other symptoms for TB infection. We found numerous, bilateral, uniformly distributed, small pulmonary nodules in the lower lobes in an abdominal radiograph by chance. He was then discharged with complete resolution of all symptoms after anti-TB therapy. Early diagnosis and treatment of TB can effectively improve the prognosis of children with HAEC.
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Affiliation(s)
- Yue Song
- Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.,Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education
| | - Changqiang Yang
- Department of Cardiology, West China Hospital, Sichuan University, Chengdu, Sichuan, China
| | - Hua Wang
- Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.,Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education
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Verkuijl SJ, Friedmacher F, Harter PN, Rolle U, Broens PMA. Persistent bowel dysfunction after surgery for Hirschsprung's disease: A neuropathological perspective. World J Gastrointest Surg 2021; 13:822-833. [PMID: 34512906 PMCID: PMC8394380 DOI: 10.4240/wjgs.v13.i8.822] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/12/2021] [Revised: 05/12/2021] [Accepted: 07/05/2021] [Indexed: 02/06/2023] Open
Abstract
Hirschsprung's disease (HD) is a congenital disorder, characterized by aganglionosis in the distal part of the gastrointestinal tract. Despite complete surgical resection of the aganglionic segment, both constipation and fecal incontinence persist in a considerable number of patients with limited treatment options. There is growing evidence for structural abnormalities in the ganglionic bowel proximal to the aganglionosis in both humans and animals with HD, which may play a role in persistent bowel dysfunction. These abnormalities include: (1) Histopathological abnormalities of enteric neural cells; (2) Imbalanced expression of neurotransmitters and neuroproteins; (3) Abnormal expression of enteric pacemaker cells; (4) Abnormalities of smooth muscle cells; and (5) Abnormalities within the extracellular matrix. Hence, a better understanding of these previously unrecognized neuropathological abnormalities may improve follow-up and treatment in patients with HD suffering from persistent bowel dysfunction following surgical correction. In the long term, further combination of clinical and neuropathological data will hopefully enable a translational step towards more individual treatment for HD.
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Affiliation(s)
- Sanne J Verkuijl
- Department of Pediatric Surgery, University Hospital Frankfurt, Goethe University Frankfurt, Frankfurt 60590, Germany
- Neurological Institute (Edinger-Institute), University Hospital Frankfurt, Goethe University Frankfurt, Frankfurt 60528, Germany
- Department of Surgery, Division of Pediatric Surgery, University of Groningen, University Medical Center Groningen, Groningen 9700 RB, Netherlands
| | - Florian Friedmacher
- Department of Pediatric Surgery, University Hospital Frankfurt, Goethe University Frankfurt, Frankfurt 60590, Germany
| | - Patrick N Harter
- Neurological Institute (Edinger-Institute), University Hospital Frankfurt, Goethe University Frankfurt, Frankfurt 60528, Germany
| | - Udo Rolle
- Department of Pediatric Surgery, University Hospital Frankfurt, Goethe University Frankfurt, Frankfurt 60590, Germany
| | - Paul MA Broens
- Department of Surgery, Division of Pediatric Surgery, University of Groningen, University Medical Center Groningen, Groningen 9700 RB, Netherlands
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Shrestha BM, Shrestha D, Shrestha S, Bist A, Kharel S, Koirala DP. Hirschsprung disease with Edward syndrome: A rare association: A case report. Int J Surg Case Rep 2021; 84:106084. [PMID: 34118558 PMCID: PMC8196216 DOI: 10.1016/j.ijscr.2021.106084] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/09/2021] [Revised: 05/28/2021] [Accepted: 06/03/2021] [Indexed: 10/25/2022] Open
Abstract
INTRODUCTION AND IMPORTANCE Edward's syndrome (ES) occurs as a result of trisomy of chromosome 18 and is associated with multisystem congenital anomalies. The association of ES with various gastrointestinal malformations but Hirschsprung disease (HD) is well documented. CASE PRESENTATION A female infant on her 5th day of life presented with episodes of bilious vomiting along with abdominal distension and no passage of stool. The child had a small head and prominent occiput, low set abnormal ears, small jaw, upturned nose, widely spaced eyes, small neck with widely spaced nipples, clenched hands with overlapping fingers, flexed big toe, and prominent heels. CLINICAL DISCUSSION Edward syndrome is associated with multisystem congenital abnormalities of which gastrointestinal abnormalities make up the most part. The condition can be identified by fetal ultrasound screening. Surgical correction of associated congenital anomalies at different times along with lifelong supportive management is important. CONCLUSIONS Edward syndrome can present as Hirschsprung disease as a part of associated gastrointestinal Malformation. Often, early identification and termination of the pregnancy in antenatal life can reduce the suffering. Surgical correction of associated anomalies along with supportive care forms the cornerstone of management. However, the prognosis remains poor.
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Affiliation(s)
| | - Diwan Shrestha
- Department of GI and General Surgery, Tribhuvan University Teaching Hospital, Institute of Medicine, Kathmandu, Nepal
| | - Suraj Shrestha
- Maharajgunj Medical Campus, Institute of Medicine, Kathmandu, Nepal
| | - Anil Bist
- Maharajgunj Medical Campus, Institute of Medicine, Kathmandu, Nepal
| | - Sanjeev Kharel
- Maharajgunj Medical Campus, Institute of Medicine, Kathmandu, Nepal.
| | - Dinesh Prasad Koirala
- Department of GI and General Surgery, Tribhuvan University Teaching Hospital, Institute of Medicine, Kathmandu, Nepal.
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Development of Clinical Referral Score Model for Early Diagnosis of Hirschsprung's Disease in Suspected Pediatric Patients. Healthcare (Basel) 2021; 9:healthcare9060678. [PMID: 34200020 PMCID: PMC8229157 DOI: 10.3390/healthcare9060678] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/03/2021] [Revised: 05/31/2021] [Accepted: 06/02/2021] [Indexed: 11/16/2022] Open
Abstract
The diagnosis of Hirschsprung’s disease (HSCR) relies on history, physical examination, and investigations. Some of investigation modalities could not be done in primary hospital. This study was aimed to develop the clinical score model for diagnosing and early referrals of HSCR, especially in areas where investigations were not available. Overall 483 consecutive suspected HSCR patients who were under 15 years old from January 2006 to December 2020 were included in this study, with 207 (42.86%) patients diagnosed with HSCR and 276 (51.14%) patients in the non-HSCR group. Five clinical parameters were included in the prediction model. The AuROC of clinical parameters, which included having an age younger than one month, male gender, the term infant, history of delayed meconium passage, and history of enterocolitis, was 72%. The prediction score ranged from 0–7, with a score 0–3 meaning a low risk to be HSCR (LHR+ = 0.37). We concluded that patients with suspected HSCR who had clinical score 4–7 had a high probability to be HSCR and, thus, it was suggested that these patients have an early referral for further investigations, which were contrast enema and rectal suction biopsy. In the case of a low probability of HSCR, clinical observation is still warranted. This clinical scoring system can be used as a screening tool to prevent delay diagnosis and complications.
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Fan X, Huang H, Lin X, Xue H, Cai M, Lin N, Xu L. Performance of Chromosomal Microarray Analysis for Detection of Copy Number Variations in Fetal Echogenic Bowel. Risk Manag Healthc Policy 2021; 14:1431-1438. [PMID: 33859509 PMCID: PMC8044071 DOI: 10.2147/rmhp.s299806] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/30/2020] [Accepted: 03/22/2021] [Indexed: 11/23/2022] Open
Abstract
BACKGROUND Fetal echogenic bowel (FEB) is associated with an increased risk of poor pregnant outcomes; however, karyotyping fails to detect copy number variations (CNVs) in FEB. This study aimed to evaluate the performance of chromosomal microarray analysis (CMA) for detection of FEB. METHODS The medical records of 147 pregnant women with FEB recruited during December 2015 to December 2018 were retrospectively reviewed, and prenatal samples were collected for karyotyping and CMA. The detection of chromosomal abnormality was compared between karyotyping and CMA. RESULTS Karyotyping identified eight cases with abnormal karyotypes (5.44% prevalence), including four fetuses with pathogenic aneuploidy, three with chromosome polymorphism and one with balanced chromosome translocation. CMA identified 13 abnormal CNVs (8.84% prevalence), including 4 fetuses with pathogenic aneuploidy as detected by karyotyping and 9 additional CNVs with normal karyotypes; however, CMA failed to detect chromosome polymorphism and balanced chromosome translocation. In fetuses with isolated FEB, no cases presented pathogenic findings and CMA detected two cases with variants of uncertain significance (VOUS). In cases presenting FEB along with other ultrasound abnormalities, CMA detected three cases with pathogenic CNVs and four cases with VOUS in addition to four cases with aneuploidy. There was no significant difference in the detection of abnormal CNVs between the fetuses with echogenic bowel alone and along with other ultrasound abnormalities (10% vs 8.67%, P > 0.05). Except 9 fetuses lost to the follow-up, the other 138 fetuses with echogenic bowel were successfully followed up. Pregnancy was terminated in 5 fetuses with chromosomal abnormality, 2 with pathogenic CNVs and 1 with VOUS, and other 16 with normal karyotypes and CMA findings but showing ultrasound abnormalities or multiple malformations. CONCLUSION Isolated FEB is associated with a good prognosis, and a satisfactory pregnant outcome is expected for fetuses with echogenic bowel that are negative for chromosomal anomalies and other severe structure abnormalities. CMA shows an important value in the genetic diagnosis of FEB. As a supplement to karyotyping, CMA may improve the accuracy of prenatal diagnosis of fetal intestinal malformations in pregnant women with FEB.
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Affiliation(s)
- Xiangqun Fan
- Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, 350001, Fujian Province, People’s Republic of China
| | - Hailong Huang
- Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, 350001, Fujian Province, People’s Republic of China
| | - Xiyao Lin
- School of Clinical Medicine, Fujian Medical University, Fuzhou City, Fujian Province, 350122, People’s Republic of China
| | - Huili Xue
- Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, 350001, Fujian Province, People’s Republic of China
| | - Meiying Cai
- Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, 350001, Fujian Province, People’s Republic of China
| | - Na Lin
- Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, 350001, Fujian Province, People’s Republic of China
| | - Liangpu Xu
- Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, 350001, Fujian Province, People’s Republic of China
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Wang J, Xiao J, Meng X, Chu X, Zhuansun DD, Xiong B, Feng J. NOX5 is expressed aberrantly but not a critical pathogenetic gene in Hirschsprung disease. BMC Pediatr 2021; 21:153. [PMID: 33784990 PMCID: PMC8008622 DOI: 10.1186/s12887-021-02611-5] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/07/2020] [Accepted: 03/11/2021] [Indexed: 01/11/2023] Open
Abstract
BACKGROUND Hirschsprung disease (HSCR) is a congenital disorder characterized by the absence of intramural ganglion cells in the distal gastrointestinal tract (GI), which results in tonic contraction of the aganglionic gut segment and functional intestinal obstruction. Recent studies have suggested NADPH oxidase 5 (NOX5) as a candidate risk gene for HSCR. In this study, we examined the function of NOX5 to verify its role in the development of the enteric nervous system (ENS). METHODS HSCR tissue specimens (n = 10) were collected at the time of pull-through surgery and control specimens (n = 10) were obtained at the time of colostomy closure in patients. The NOX5 expression in aganglionic and ganglionic segments of HSCR colon and normal colon were analyzed by immunohistochemistry (IHC), western blot and real-time quantitative PCR (qPCR). The gene expression levels and spatiotemporal expression spectrum of NOX5 in different development stages of zebrafish embryo were determined using qPCR and in-situ hybridization (ISH). The enteric nervous system in NOX5 Morpholino (MO) knockdown and wild type (WT) zebrafish embryo was analyzed by whole-mount immunofluorescence (IF). Intestinal transit assay was performed to analyze the gastrointestinal motility in NOX5 knockdown and control larvae. RESULTS NOX5 is strongly expressed in the ganglion cells in the proximal segment of HSCR colons and all segments of normal colons. Moreover, the expression of NOX5 is markedly decreased in the aganglionic segment of HSCR colon compared to the ganglionic segment. In zebrafish, NOX5 mRNA level is the highest in the one cell stage embryos and it is decreased overtime with the development of the embryos. Interestingly, the expression of NOX5 appears to be enriched in the nervous system. However, the number of neurons in the GI tract and the GI motility were not affected upon NOX5 knockdown. CONCLUSIONS Our study shows that NOX5 markedly decreased in the aganglionic segment of HSCR but didn't involve in the ENS development of zebrafish. It implies that absence of intestinal ganglion cells may lead to down-regulation of NOX5.
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Affiliation(s)
- Jing Wang
- Department of Pediatric Surgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, 1095 Jiefang Ave, Wuhan, 430030, China
| | - Jun Xiao
- Department of Pediatric Surgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, 1095 Jiefang Ave, Wuhan, 430030, China
| | - Xinyao Meng
- Department of Pediatric Surgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, 1095 Jiefang Ave, Wuhan, 430030, China
| | - Xufeng Chu
- Department of Forensic Medicine, Tongji Medical College, Huazhong University of Science and Technology, Hangkong road, Baofeng street, Qiaokou district, Wuhan, 430030, China
| | - Di Di Zhuansun
- Department of Pediatric Surgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, 1095 Jiefang Ave, Wuhan, 430030, China
| | - Bo Xiong
- Department of Forensic Medicine, Tongji Medical College, Huazhong University of Science and Technology, Hangkong road, Baofeng street, Qiaokou district, Wuhan, 430030, China.
| | - Jiexiong Feng
- Department of Pediatric Surgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, 1095 Jiefang Ave, Wuhan, 430030, China.
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Case report of a skip segment Hirschsprung's disease: A real phenomenon. Int J Surg Case Rep 2021; 80:105630. [PMID: 33592418 PMCID: PMC7893424 DOI: 10.1016/j.ijscr.2021.02.016] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/16/2020] [Revised: 02/04/2021] [Accepted: 02/04/2021] [Indexed: 11/21/2022] Open
Abstract
INTRODUCTION AND IMPORTANCE Hirschsprung's disease is a congenital anomaly that results from an incomplete craniocaudal migration and maturation of intestinal ganglion progenitor cells leading to distal intestinal aganglionosis. Skip segment Hirschsprung's disease is an extremely rare phenomenon. We report a case involving only the small bowel with confirmed colonic ganglionosis. CASE PRESENTATION A case report of a 14-month-old with a skipped segment involving the distal 50 cm of the small bowel associated with colonic ganglionosis is presented. A current review of the literature is discussed. CLINICAL DISCUSSION Our patient had persistent obstructive symptoms despite undergoing a technically good, ganglionic pull-through operation at an outside institution. A laparoscopic-assisted pull-through might have documented a small bowel wall diameter discrepancy. CONCLUSION Although rare, skip segment Hirschsprung's disease is a real phenomenon that paediatric surgeons should be aware of and could involve small and large bowels.
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