We report a case of fatal Hirschsprung's disease (HD) discovered at autopsy. A 20-year-old man collapsed at home. Emergency medical personnel found him in cardiac arrest and all resuscitative efforts failed. He had a past history of chronic constipation since infancy. Forensic autopsy revealed a megacolon full of gas and stools. Microscopic examination showed absence of ganglion cells in a short segment of the rectum and enterocolitis in the left and transverse colon. HD is rarely described in adults. In many cases, patients complained of constipation since infancy but the affection remained misdiagnosed. The relative good tolerance of the disease is usually due to a short aganglionic bowel segment. Enterocolitis is a frequent and severe complication of HD in children but is rarely described in adults. This case suggests the importance of HD diagnosis in childhood in order to avoid fatal complications with forensic consequences.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/j.1556-4029.2006.00235.x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Urine miRNA signature as potential non-invasive diagnostic biomarker for Hirschsprung's disease.
Front Mol Neurosci
January 2025
Department of Pediatric Surgery, Medical Faculty of Mannheim, University of Heidelberg, Mannheim, Germany.
Hirschsprung's disease (HSCR) is characterized by congenital absence of ganglion cells in the gastrointestinal tract, which leads to impaired defecation, constipation and intestinal obstruction. The current diagnosis of HSCR is based on Rectal Suction Biopsies (RSBs), which could be complex in newborns. Occasionally, there is a delay in diagnosis that can increase the risk of clinical complications.
View Article and Find Full Text PDF10-year experience with single-site laparoscopic-assisted Soave operation for Hirschsprung disease.
Minim Invasive Ther Allied Technol
January 2025
Department of Colorectal Surgery, The First Affiliated Hospital of Fujian Medical University, Fuzhou, P. R. China.
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.
Defining Excellence: The First Core Set of Quality Indicators for the European Paediatric Surgical Audit on Hirschsprung's Disease Care.
Acta Paediatr
January 2025
European Reference Network for Rare Inherited and Congenital Anomalies (ERNICA), Rotterdam, The Netherlands.
Aim: This study aimed to develop a universally applicable core set of quality indicators for Hirschsprung's disease care through a consensus-driven process, to standardise and improve care quality across Europe.
Methods: A modified Delphi method was used to achieve consensus among healthcare professionals (HPs) and patient representatives (PRs) across Europe. Participants completed three rounds of anonymous surveys, rating quality indicators for Hirschsprung's disease care.
Magnesium ions regulate the Warburg effect to promote the differentiation of enteric neural crest cells into neurons.
Stem Cell Res Ther
January 2025
Department of Pediatric Surgery, Qilu Hospital of Shandong University, Jinan, China.
Background: Understanding how enteric neural crest cells (ENCCs) differentiate into neurons is crucial for neurogenesis therapy and gastrointestinal disease research. This study explores how magnesium ions regulate the glycolytic pathway to enhance ENCCs differentiation into neurons.
Materials And Methods: We used polymerase chain reaction, western blot, immunofluorescence, and multielectrode array techniques to assess magnesium ions' impact on ENCCs differentiation.
Surgical management of short-segment Hirschsprung disease.
World J Pediatr Surg
December 2024
Department of General Surgery, Boston Children's Hospital, Boston, Massachusetts, USA.
Hirschsprung disease (HSCR) is the most common congenital motility disorder of the intestine, characterized by the absence of ganglion cells in the myenteric and submucosal plexuses, leading to functional bowel obstruction. Short-segment Hirschsprung disease (SS-HSCR) accounts for the majority of cases, with surgical resection being the cornerstone of treatment. Despite advances in surgical techniques, considerable variability exists in practice regarding the timing of surgery, the choice of technique, and the length of aganglionic rectal cuff to resect.
View Article and Find Full Text PDFWant 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!