Hirschsprung's disease is rare in adults and represents a unique problem in the diagnosis and therapy. The permanent symptoms of the disease are persistent chronic constipation and meteorism. The degree of constipation depends on the length and narrowing of the aganglionary segment, diet and compensatory capacities of the bowel. Already known characteristics of agangliosis (absence of ganglions cells in intramuscular and submucous plexus, changes in nerve fibers and increased cholinesterase activity of the parasympathetic nerve fibers) cause impairment in peristalsis of the aganglionary segment and insufficient relaxation of the internal anal sphincter. The result is a functional refractory constipation. The disease can be diagnosed on the basis of the history, RTG examination, electromanometry and histopathology. In the majority of cases RTG examination is very reliable if performed according to generally accepted criteria. It is important to reveal the narrowed aganglionary area by oblique and profile images during irrigoscopy and irrigography. The treatment is surgical. The preferred operations are those with a combined transabdominal-transanal approach. Such operations are the most successful in management of constipation and maintenance of contingency. The authors present three cases. Three patients were old between 21 and 23 years. Their stools ranged from 10 days to two months (a stool per 10 days to two months). The diagnosis was established for all three patients by RTG examinations and histopathological findings. All bore the operation very successfully. Three various operation techniques were used according to surgeon's choice.
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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 PDFMinim 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.
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.
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.
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.
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