Background: Hirschprung's Disease (HD) is a congenital disease where the ganglion cells that innervate the colon fail to migrate. Most cases are diagnosed during childhood, however, in rare cases it can go unnoticed until adulthood.
Case Presentation: We present a case of a 40-year-old-man who had been managing his chronic constipation with an atypical diet, until he was diagnosed with HD following an emergent abdominal surgery due to unresolved constipation. His diagnosis was delayed mainly out of fear of medical procedures. The surgery was later complicated and followed by a second and a final third and definitive surgery, suitable for the diagnosis of HD.
Conclusion: HD should be included in the differential diagnosis of constipation even in this age. Also, patient awareness should be increased to ensure better quality of life.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9052167 | PMC |
| http://dx.doi.org/10.1016/j.amsu.2022.103512 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Risk factors and simple scoring system for predicting postoperative nutritional status of Hirschsprung's disease.
Front Nutr
December 2024
Department of Urology, Children's Hospital of Chongqing Medical University, 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, Chongqing, China.
Background: Nutritional problem after surgery for Hirschprung's disease (HSCR) was not optimistic. This study aimed to analyze the risk factors of postoperative undernutrition for patients with HSCR and establish a scoring system for predicting postoperative undernutrition.
Methods: Retrospective review of 341 patients with HSCR who received Laparoscopic-assisted pull-through surgery in a tertiary-level pediatric hospital was conducted with assessments of clinical data.
SF3B2 Haploinsufficiency Associated With Hirschprung Disease and Complex Cardiac Defect Without Craniofacial Microsomia.
Am J Med Genet A
September 2024
Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.
Haploinsufficiency of SF3B2 is associated with craniofacial microsomia, characterized by mandibular hypoplasia and microtia, often with preauricular tags or pits, epibulbar dermoids, and cleft palate. In addition, extracraniofacial anomalies may be present, such as skeletal, cardiac renal, and abnormalities of the central nervous system. Variants have been either de novo or inherited, and both inter- and intrafamilial variability has been observed.
View Article and Find Full Text PDFHirschprung's disease and postpartum trauma leading to fecal incontinence: Why? How?
Rev Assoc Med Bras (1992)
September 2024
Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, Departamento de Obstetrícia e Ginecologia, Disciplina de Ginecologia, Laboratório de Ginecologia Estrutural e Molecular - São Paulo (SP), Brazil.
Ernica Clinical Consensus Statements on Total Colonic and Intestinal Aganglionosis.
J Pediatr Surg
October 2024
Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden; Unit of Pediatric Surgery, Karolinska University Hospital, Stockholm, Sweden.
Background: Hirschsprung disease is a congenital intestinal motility disorder characterized by an absence of enteric ganglion cells. Total colonic aganglionosis and near total or total intestinal aganglionosis, defined as absence of ganglion cells in the entire colon and with variable length of small bowel involved, are life-threatening conditions which affect less than 10 % of all patients with Hirschsprung disease. The aim of this project was to develop clinical consensus statements within ERNICA, the European Reference Network for rare congenital digestive diseases, on four major topics: Surgical treatment of total colonic aganglionosis, surgical treatment of total intestinal aganglionosis, management of poor bowel function in total colonic and/or intestinal aganglionosis and long-term management in total colonic and or intestinal aganglionosis.
View Article and Find Full Text PDFDuhamel and transanal endorectal pull-throughs for Hirschsprung disease: a Bayesian network meta-analysis.
BMC Surg
May 2024
Department of Pediatric Surgery, Qilu Hospital, Shandong University, No.107 Wenhua West Road, Lixia District, Jinan, 250012, Shandong, China.
Article Synopsis
- The study aims to compare the effectiveness and complications of four surgical methods for treating Hirschsprung disease: open Duhamel (OD), laparoscopic-assisted Duhamel (LD), transanal endorectal pull-through (TEPT), and laparoscopic-assisted endorectal pull-through (LEPT).
- A comprehensive review of 62 studies involving 4781 patients was conducted, assessing outcomes related to surgery and complications, using various statistical methods to analyze the data.
- Results indicate that LEPT has the least intraoperative blood loss and shortest recovery time concerning gastrointestinal function, while OD shows longer recovery times and hospital stays compared to LEPT.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!