A case of sigmoid colon perforation due to segmental absence of intestinal musculature (SAIM) accompanied by vascular Ehlers–Danlos syndrome: a case report

Abstract Background Segmental absence of intestinal musculature (SAIM) is a partial defect of the intrinsic muscular layer of the intestinal tract. In this report, we describe a case of perforation of the sigmoid colon due to SAIM accompanied by vascular Ehlers–Danlos syndrome (vEDS), which was succ...

Full description

Saved in:
Bibliographic Details
Main Authors: Kosuke Funaki, Tomonori Akagi, Hidefumi Shiroshita, Yusuke Itai, Kiminori Watanabe, Takashi Shuto, Yoshitake Ueda, Tsuyoshi Etoh, Shinji Miyamoto, Tsutomu Daa, Masafumi Inomata
Format: Article
Language:English
Published: Japan Surgical Society 2023-08-01
Series:Surgical Case Reports
Online Access:https://doi.org/10.1186/s40792-023-01721-9
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1849416219587772416
author Kosuke Funaki
Tomonori Akagi
Hidefumi Shiroshita
Yusuke Itai
Kiminori Watanabe
Takashi Shuto
Yoshitake Ueda
Tsuyoshi Etoh
Shinji Miyamoto
Tsutomu Daa
Masafumi Inomata
author_facet Kosuke Funaki
Tomonori Akagi
Hidefumi Shiroshita
Yusuke Itai
Kiminori Watanabe
Takashi Shuto
Yoshitake Ueda
Tsuyoshi Etoh
Shinji Miyamoto
Tsutomu Daa
Masafumi Inomata
author_sort Kosuke Funaki
collection DOAJ
description Abstract Background Segmental absence of intestinal musculature (SAIM) is a partial defect of the intrinsic muscular layer of the intestinal tract. In this report, we describe a case of perforation of the sigmoid colon due to SAIM accompanied by vascular Ehlers–Danlos syndrome (vEDS), which was successfully treated by surgical therapy. Case presentation A male in his 30 s was being followed up for vEDS diagnosed by genetic testing. He had undergone two major vascular surgeries, abdominal aortic artery revascularization and thoracic endovascular aortic repair for a residual dissection and enlarging abdominal aortic aneurysm. On postoperative day 11, the patient developed perforation of the sigmoid colon for which intraperitoneal lavage and drainage, Hartmann surgery, and transverse colostomy were performed. Histological findings showed no disturbance of blood flow or diverticulum but did show a defect in the intrinsic muscular layer around the perforation site, leading to the pathological diagnosis of SAIM and associated perforation of the sigmoid colon. Postoperatively, the patient had no complications and was discharged on postoperative day 18. The patient is being followed as an outpatient and has experienced no relapse. Conclusions Both SAIM and vEDS, which may be related diseases, are associated with the presence of tissue fragility and have a high potential to cause intestinal perforation Caution should be exercised during surveillance in patients with constipation and examinations that cause increased intestinal pressure.
format Article
id doaj-art-3d84e43f0b8549ef894fc488ff0d0109
institution Kabale University
issn 2198-7793
language English
publishDate 2023-08-01
publisher Japan Surgical Society
record_format Article
series Surgical Case Reports
spelling doaj-art-3d84e43f0b8549ef894fc488ff0d01092025-08-20T03:33:15ZengJapan Surgical SocietySurgical Case Reports2198-77932023-08-01911510.1186/s40792-023-01721-9A case of sigmoid colon perforation due to segmental absence of intestinal musculature (SAIM) accompanied by vascular Ehlers–Danlos syndrome: a case reportKosuke Funaki0Tomonori Akagi1Hidefumi Shiroshita2Yusuke Itai3Kiminori Watanabe4Takashi Shuto5Yoshitake Ueda6Tsuyoshi Etoh7Shinji Miyamoto8Tsutomu Daa9Masafumi Inomata10Department of Gastroenterological and Pediatric Surgery, Oita University Faculty of MedicineDepartment of Gastroenterological and Pediatric Surgery, Oita University Faculty of MedicineDepartment of Gastroenterological and Pediatric Surgery, Oita University Faculty of MedicineDepartment of Gastroenterological and Pediatric Surgery, Oita University Faculty of MedicineDepartment of Gastroenterological and Pediatric Surgery, Oita University Faculty of MedicineDepartment of Cardiovascular Surgery, Oita UniversityDepartment of Comprehensive Surgery for Community Medicine, Oita UniversityDepartment of Gastroenterological and Pediatric Surgery, Oita University Faculty of MedicineDepartment of Cardiovascular Surgery, Oita UniversityDepartment of Diagnostic Pathology, Oita UniversityDepartment of Gastroenterological and Pediatric Surgery, Oita University Faculty of MedicineAbstract Background Segmental absence of intestinal musculature (SAIM) is a partial defect of the intrinsic muscular layer of the intestinal tract. In this report, we describe a case of perforation of the sigmoid colon due to SAIM accompanied by vascular Ehlers–Danlos syndrome (vEDS), which was successfully treated by surgical therapy. Case presentation A male in his 30 s was being followed up for vEDS diagnosed by genetic testing. He had undergone two major vascular surgeries, abdominal aortic artery revascularization and thoracic endovascular aortic repair for a residual dissection and enlarging abdominal aortic aneurysm. On postoperative day 11, the patient developed perforation of the sigmoid colon for which intraperitoneal lavage and drainage, Hartmann surgery, and transverse colostomy were performed. Histological findings showed no disturbance of blood flow or diverticulum but did show a defect in the intrinsic muscular layer around the perforation site, leading to the pathological diagnosis of SAIM and associated perforation of the sigmoid colon. Postoperatively, the patient had no complications and was discharged on postoperative day 18. The patient is being followed as an outpatient and has experienced no relapse. Conclusions Both SAIM and vEDS, which may be related diseases, are associated with the presence of tissue fragility and have a high potential to cause intestinal perforation Caution should be exercised during surveillance in patients with constipation and examinations that cause increased intestinal pressure.https://doi.org/10.1186/s40792-023-01721-9
spellingShingle Kosuke Funaki
Tomonori Akagi
Hidefumi Shiroshita
Yusuke Itai
Kiminori Watanabe
Takashi Shuto
Yoshitake Ueda
Tsuyoshi Etoh
Shinji Miyamoto
Tsutomu Daa
Masafumi Inomata
A case of sigmoid colon perforation due to segmental absence of intestinal musculature (SAIM) accompanied by vascular Ehlers–Danlos syndrome: a case report
Surgical Case Reports
title A case of sigmoid colon perforation due to segmental absence of intestinal musculature (SAIM) accompanied by vascular Ehlers–Danlos syndrome: a case report
title_full A case of sigmoid colon perforation due to segmental absence of intestinal musculature (SAIM) accompanied by vascular Ehlers–Danlos syndrome: a case report
title_fullStr A case of sigmoid colon perforation due to segmental absence of intestinal musculature (SAIM) accompanied by vascular Ehlers–Danlos syndrome: a case report
title_full_unstemmed A case of sigmoid colon perforation due to segmental absence of intestinal musculature (SAIM) accompanied by vascular Ehlers–Danlos syndrome: a case report
title_short A case of sigmoid colon perforation due to segmental absence of intestinal musculature (SAIM) accompanied by vascular Ehlers–Danlos syndrome: a case report
title_sort case of sigmoid colon perforation due to segmental absence of intestinal musculature saim accompanied by vascular ehlers danlos syndrome a case report
url https://doi.org/10.1186/s40792-023-01721-9
work_keys_str_mv AT kosukefunaki acaseofsigmoidcolonperforationduetosegmentalabsenceofintestinalmusculaturesaimaccompaniedbyvascularehlersdanlossyndromeacasereport
AT tomonoriakagi acaseofsigmoidcolonperforationduetosegmentalabsenceofintestinalmusculaturesaimaccompaniedbyvascularehlersdanlossyndromeacasereport
AT hidefumishiroshita acaseofsigmoidcolonperforationduetosegmentalabsenceofintestinalmusculaturesaimaccompaniedbyvascularehlersdanlossyndromeacasereport
AT yusukeitai acaseofsigmoidcolonperforationduetosegmentalabsenceofintestinalmusculaturesaimaccompaniedbyvascularehlersdanlossyndromeacasereport
AT kiminoriwatanabe acaseofsigmoidcolonperforationduetosegmentalabsenceofintestinalmusculaturesaimaccompaniedbyvascularehlersdanlossyndromeacasereport
AT takashishuto acaseofsigmoidcolonperforationduetosegmentalabsenceofintestinalmusculaturesaimaccompaniedbyvascularehlersdanlossyndromeacasereport
AT yoshitakeueda acaseofsigmoidcolonperforationduetosegmentalabsenceofintestinalmusculaturesaimaccompaniedbyvascularehlersdanlossyndromeacasereport
AT tsuyoshietoh acaseofsigmoidcolonperforationduetosegmentalabsenceofintestinalmusculaturesaimaccompaniedbyvascularehlersdanlossyndromeacasereport
AT shinjimiyamoto acaseofsigmoidcolonperforationduetosegmentalabsenceofintestinalmusculaturesaimaccompaniedbyvascularehlersdanlossyndromeacasereport
AT tsutomudaa acaseofsigmoidcolonperforationduetosegmentalabsenceofintestinalmusculaturesaimaccompaniedbyvascularehlersdanlossyndromeacasereport
AT masafumiinomata acaseofsigmoidcolonperforationduetosegmentalabsenceofintestinalmusculaturesaimaccompaniedbyvascularehlersdanlossyndromeacasereport
AT kosukefunaki caseofsigmoidcolonperforationduetosegmentalabsenceofintestinalmusculaturesaimaccompaniedbyvascularehlersdanlossyndromeacasereport
AT tomonoriakagi caseofsigmoidcolonperforationduetosegmentalabsenceofintestinalmusculaturesaimaccompaniedbyvascularehlersdanlossyndromeacasereport
AT hidefumishiroshita caseofsigmoidcolonperforationduetosegmentalabsenceofintestinalmusculaturesaimaccompaniedbyvascularehlersdanlossyndromeacasereport
AT yusukeitai caseofsigmoidcolonperforationduetosegmentalabsenceofintestinalmusculaturesaimaccompaniedbyvascularehlersdanlossyndromeacasereport
AT kiminoriwatanabe caseofsigmoidcolonperforationduetosegmentalabsenceofintestinalmusculaturesaimaccompaniedbyvascularehlersdanlossyndromeacasereport
AT takashishuto caseofsigmoidcolonperforationduetosegmentalabsenceofintestinalmusculaturesaimaccompaniedbyvascularehlersdanlossyndromeacasereport
AT yoshitakeueda caseofsigmoidcolonperforationduetosegmentalabsenceofintestinalmusculaturesaimaccompaniedbyvascularehlersdanlossyndromeacasereport
AT tsuyoshietoh caseofsigmoidcolonperforationduetosegmentalabsenceofintestinalmusculaturesaimaccompaniedbyvascularehlersdanlossyndromeacasereport
AT shinjimiyamoto caseofsigmoidcolonperforationduetosegmentalabsenceofintestinalmusculaturesaimaccompaniedbyvascularehlersdanlossyndromeacasereport
AT tsutomudaa caseofsigmoidcolonperforationduetosegmentalabsenceofintestinalmusculaturesaimaccompaniedbyvascularehlersdanlossyndromeacasereport
AT masafumiinomata caseofsigmoidcolonperforationduetosegmentalabsenceofintestinalmusculaturesaimaccompaniedbyvascularehlersdanlossyndromeacasereport