The Contributions of RET Noncoding Variation to Hirschsprung Disease

2012 ◽  
pp. 169-194
Author(s):  
Zachary E. Stine ◽  
Andrew S. McCallion
Keyword(s):  
Hirschsprung Disease

Hirschsprung Disease

2020 ◽  
Author(s):  
Keyword(s):  
Hirschsprung Disease

An Obscure Colon Dilatation and its Underlying Cause: Case Report and Literature Review

2020 ◽  
pp. 1-5
Author(s):  
Anton Stift ◽  
Kerstin Wimmer ◽  
Felix Harpain ◽  
Katharina Wöran ◽  
Thomas Mang ◽  
...  
Keyword(s):  
Case Report ◽  
Sigmoid Colon ◽  
Immunohistochemical Staining ◽  
Late Onset ◽  
Hirschsprung Disease ◽  
Endoscopic Examination ◽  
Case Presentation ◽  
Idiopathic Megacolon ◽  
History Of ◽  
Cells Of Cajal

Introduction: Congenital as well as acquired diseases may be responsible for the development of a megacolon. In adult patients, Clostridium difficile associated infection as well as late-onset of Morbus Hirschsprung disease are known to cause a megacolon. In addition, malignant as well as benign colorectal strictures may lead to intestinal dilatation. In case of an idiopathic megacolon, the underlying cause remains unclear. Case Presentation: We describe the case of a 44-year-old male patient suffering from a long history of chronic constipation. He presented himself with an obscurely dilated large intestine with bowel loops up to 17 centimeters in diameter. Radiological as well as endoscopic examination gave evidence of a spastic process in the sigmoid colon. The patient was treated with a subtotal colectomy and the intraoperative findings revealed a stenotic stricture in the sigmoid colon. Since the histological examination did not find a conclusive reason for the functional stenosis, an immunohistochemical staining was advised. This showed a decrease in interstitial cells of Cajal (ICC) in the stenotic part of the sigmoid colon. Discussion: This case report describes a patient with an idiopathic megacolon, where the underlying cause remained unclear until an immunohistochemical staining of the stenotic colon showed a substantial decrease of ICCs. Various pathologies leading to a megacolon are reviewed and discussed.

CASE REPORT: RARE FORM OF HIRSCHPRUNG’S DISEASE

2020 ◽  
Vol 30 (5) ◽  
pp. 82-84
Author(s):  
Ilja Skalskis
Keyword(s):  
Down Syndrome ◽  
Case Report ◽  
Clinical Symptoms ◽  
Hirschsprung Disease ◽  
Distal Colon ◽  
Total Colonic Aganglionosis ◽  
Sphincter Function ◽  
Anal Sphincter Function ◽  
History Of ◽  
High Index Of Suspicion

Hirschsprung disease (HD) is a developmental disorder characterized by the absence of ganglia in the distal colon, resulting in a functional obstruction. Incidence of total colonic aganglionosis (TCA) is 1 in 500 000 and it accounts for 5-10% of all cases of HD. HD should be suspected in patients with typical clinical symptoms and a high index of suspicion is appropriate for infants with a predisposing condition such as Down Syndrome (DS), or for those with a family history of HD. The treatment of choice for HD is surgical, such as Swenson, Soave, and Duhamel procedures. The goals are to resect the affected segment of the colon, bring the normal ganglionic bowel down close to the anus, and preserve internal anal sphincter function. We present a clinical case report of TCA in a child with Down syndrome (DS) and review of literature.

Jacquet erosive diaper dermatitis after surgery for Hirschsprung disease [see comments]

1998 ◽  
Vol 15 (1) ◽  
pp. 46-47 ◽  
Author(s):  
J Rodriguez-Poblador ◽  
U Gonzalez-Castro ◽  
S Herranz-Martinez ◽  
J Luelmo- Aguilar
Keyword(s):  
Hirschsprung Disease ◽  
Diaper Dermatitis

scholarly journals Functional outcomes of patients with short-segment Hirschsprung disease after transanal endorectal pull-through

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Gunadi ◽  
Gabriele Ivana ◽  
Desyifa Annisa Mursalin ◽  
Ririd Tri Pitaka ◽  
Muhammad Wildan Zain ◽  
...  
Keyword(s):  
Functional Outcomes ◽  
Hirschsprung Disease ◽  
Treatment Method ◽  
Strongly Correlated ◽  
Short Segment ◽  
Multicenter Studies ◽  
Operative Complications ◽  
Pull Through ◽  
Larger Sample ◽  
Post Operative Complications

Abstract Background Transanal endorectal pull-through (TEPT) is considered the most preferable treatment method for Hirschsprung disease (HSCR) since it is less invasive and has fewer morbidities than transabdominal pull-through. Here, functional outcomes in short-segment HSCR patients after TEPT were assessed and associated with the prognostic factors. Methods Krickenbeck classification was used to assess the functional outcomes in patients with HSCR after TEPT surgery at our institution from 2012 to 2020. Results Fifty patients were involved in this study. Voluntary bowel movement (VBM) was achieved in 82% of subjects. Nine (18%) subjects had soiling grade 1, while two (4%) and two (4%) patients suffered constipation that was manageable with diet and laxative agents, respectively. Patients who underwent TEPT at ≥ 4 years old tended to have soiling more than patients who underwent TEPT at < 4 years old (OR = 16.47 [95% CI 0.9–301.61]; p = 0.06), whereas patients with post-operative complications had 10.5-fold higher risk for constipation than patients without post-operative complications (p = 0.037; 95% CI 1.15–95.92). Multivariate analysis showed male sex was significantly associated with VBM (OR = 9.25 [95% CI 1.34–63.77]; p = 0.024), while post-operative complications were strongly correlated with constipation (OR = 10 [95% CI 1.09–91.44]; p = 0.04). Conclusions The functional outcomes of HSCR patients after TEPT in our institution are considered relatively good. Moreover, the VBM, soiling, and constipation risk after TEPT might be affected by sex, age at TEPT performed, and post-operative complications, respectively, while the age at TEPT performed might not be associated with functional outcomes. Further multicenter studies with a larger sample size are necessary to clarify and confirm our findings.

scholarly journals Ultra high frequency ultrasonography to distinguish ganglionic from aganglionic bowel wall in Hirschsprung disease: A first report

2021 ◽  
Author(s):  
Christina Granéli ◽  
Tobias Erlöv ◽  
Rodrigo Munoz Mitev ◽  
Ioanna Kasselaki ◽  
Kristine Hagelsteen ◽  
...  
Keyword(s):  
High Frequency ◽  
Bowel Wall ◽  
Hirschsprung Disease ◽  
First Report ◽  
Ultra High Frequency ◽  
High Frequency Ultrasonography

scholarly journals Image of the Month: Decision-Making in Surgery for Late Onset Hirschsprung Disease

2020 ◽  
Vol 08 (01) ◽  
pp. e99-e101
Author(s):  
Anisha Apte ◽  
Elise McKenna ◽  
Marc A. Levitt
Keyword(s):  
Decision Making ◽  
Chronic Constipation ◽  
Anorectal Manometry ◽  
Late Onset ◽  
Hirschsprung Disease ◽  
Rectal Biopsy ◽  
Poor Growth

AbstractWe present a case of a 14-year-old boy with chronic distension, poor growth, and chronic constipation. He undergoes anorectal manometry and rectal biopsy, confirming the diagnosis of Hirschsprung disease (HD). The case is presented with a key image and associated questions to prompt discussion on strategies for management and treatment of HD in late-diagnosed children.

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