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Total colonic aganglionosis with ileum extension Hirschsprung's disease in an adult: A case report

INTRODUCTION: Hirschsprung's disease is a gastrointestinal anomaly affecting neuronal development and function. The primary abnormality is the absent ganglionic cells in the submucosal and myenteric neural plexuses. Disease presentation can vary, and patients may present with delayed meconium p...

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Autores principales: Naiem, Mohamed Eltayeb Abdelrahman, Hilal, Nadir, Elgurashi, Mohamed Elfatih A., Suliman, Suliman Hussein
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8886008/
https://www.ncbi.nlm.nih.gov/pubmed/35231740
http://dx.doi.org/10.1016/j.ijscr.2022.106852
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author Naiem, Mohamed Eltayeb Abdelrahman
Hilal, Nadir
Elgurashi, Mohamed Elfatih A.
Suliman, Suliman Hussein
author_facet Naiem, Mohamed Eltayeb Abdelrahman
Hilal, Nadir
Elgurashi, Mohamed Elfatih A.
Suliman, Suliman Hussein
author_sort Naiem, Mohamed Eltayeb Abdelrahman
collection PubMed
description INTRODUCTION: Hirschsprung's disease is a gastrointestinal anomaly affecting neuronal development and function. The primary abnormality is the absent ganglionic cells in the submucosal and myenteric neural plexuses. Disease presentation can vary, and patients may present with delayed meconium passage or late in adulthood. Total colonic aganglionosis is considered a rare subtype and even rarer to extend proximally into the small bowel. Therefore, adult Hirschsprung disease is frequently misdiagnosed as chronic constipation until comorbid events such as volvulus or perforation occur. CASE PRESENTATION: A 34 years South-Sudanese male presented with chronic constipation since early childhood, abdominal discomfort, pain, and distension. His bowel habits were infrequent, requiring occasional enemas. A strong family history of Hirschsprung disease was identified. He underwent total abdominal colectomy and end ileostomy. Postoperative diagnosis of TCA and small bowel extension of more than 50 cm was confirmed. The patient was discharged home after ileostomy education and possible future reconstruction. CLINICAL DISCUSSION: Hirschsprung's ileal extension resembles a risk of morbidities and mortality. It increases as the segment extends proximally. No international consensus on surgical management. It should be tailored to patient condition, diseased segment length, and the possible definitive primary reconstruction. Our patient's surgical diversion considered the patient's long-standing constipation history and dilated fecal-loaded ileum. CONCLUSION: TCA requires a high index suspension during the workup of chronic constipation patients. There is no reported superior surgical approach, and it depends on the institution's experience and surgeon's expertise. Primary reconstruction can be achieved, but we recommend an ileostomy for such cases.
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spelling pubmed-88860082022-03-02 Total colonic aganglionosis with ileum extension Hirschsprung's disease in an adult: A case report Naiem, Mohamed Eltayeb Abdelrahman Hilal, Nadir Elgurashi, Mohamed Elfatih A. Suliman, Suliman Hussein Int J Surg Case Rep Case Report INTRODUCTION: Hirschsprung's disease is a gastrointestinal anomaly affecting neuronal development and function. The primary abnormality is the absent ganglionic cells in the submucosal and myenteric neural plexuses. Disease presentation can vary, and patients may present with delayed meconium passage or late in adulthood. Total colonic aganglionosis is considered a rare subtype and even rarer to extend proximally into the small bowel. Therefore, adult Hirschsprung disease is frequently misdiagnosed as chronic constipation until comorbid events such as volvulus or perforation occur. CASE PRESENTATION: A 34 years South-Sudanese male presented with chronic constipation since early childhood, abdominal discomfort, pain, and distension. His bowel habits were infrequent, requiring occasional enemas. A strong family history of Hirschsprung disease was identified. He underwent total abdominal colectomy and end ileostomy. Postoperative diagnosis of TCA and small bowel extension of more than 50 cm was confirmed. The patient was discharged home after ileostomy education and possible future reconstruction. CLINICAL DISCUSSION: Hirschsprung's ileal extension resembles a risk of morbidities and mortality. It increases as the segment extends proximally. No international consensus on surgical management. It should be tailored to patient condition, diseased segment length, and the possible definitive primary reconstruction. Our patient's surgical diversion considered the patient's long-standing constipation history and dilated fecal-loaded ileum. CONCLUSION: TCA requires a high index suspension during the workup of chronic constipation patients. There is no reported superior surgical approach, and it depends on the institution's experience and surgeon's expertise. Primary reconstruction can be achieved, but we recommend an ileostomy for such cases. Elsevier 2022-02-25 /pmc/articles/PMC8886008/ /pubmed/35231740 http://dx.doi.org/10.1016/j.ijscr.2022.106852 Text en © 2022 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Naiem, Mohamed Eltayeb Abdelrahman
Hilal, Nadir
Elgurashi, Mohamed Elfatih A.
Suliman, Suliman Hussein
Total colonic aganglionosis with ileum extension Hirschsprung's disease in an adult: A case report
title Total colonic aganglionosis with ileum extension Hirschsprung's disease in an adult: A case report
title_full Total colonic aganglionosis with ileum extension Hirschsprung's disease in an adult: A case report
title_fullStr Total colonic aganglionosis with ileum extension Hirschsprung's disease in an adult: A case report
title_full_unstemmed Total colonic aganglionosis with ileum extension Hirschsprung's disease in an adult: A case report
title_short Total colonic aganglionosis with ileum extension Hirschsprung's disease in an adult: A case report
title_sort total colonic aganglionosis with ileum extension hirschsprung's disease in an adult: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8886008/
https://www.ncbi.nlm.nih.gov/pubmed/35231740
http://dx.doi.org/10.1016/j.ijscr.2022.106852
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