Segmental Absence of Intestinal Musculature in a Child with Type IV Ehlers–Danlos Syndrome

Zeky, Nicole; Short, Celia; Keith, Brent; Craver, Randall; Zagory, Jessica A.

doi:10.3390/children8080680

Cited by 6 publications

(3 citation statements)

References 18 publications

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“…As previously mentioned, in vEDS, there is no loss of intestinal muscle propria. The coexistence of these two isolated rare syndromes has been described only once, in a 16-yearold patient [38]. To the best of our knowledge, the index case is the second one in which the segmental absence of the intestinal muscularis and the vascular subtype of Ehlers-Danlos Syndrome coexist, increasing thereby the rarity of this case.…”

Section: Discussionmentioning

confidence: 88%

Bowel Perforation in Vascular EDS: A Case Report and a Comprehensive Review of the Literature

Menni¹,

Tzikos²,

Sarafis³

et al. 2023

Preprint

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Introduction: Ehlers-Danlos syndromes (EDS) constitute a rare entity of genetic disorders, affecting the collagen of all types all. Herein, we describe a case of vascular type of EDS, with coexisting segmental absence of intestinal musculature, while performing simultaneously a narrative review of the existing literature. Case Presentation: A 23-year-old male patient with a history of multiple abdominal operations due to recurrent bowel perforations and the presence of high-output enterocutaneous fistula was admitted to our surgical department for further evaluation and treatment. After detailed diagnostic testing, the diagnosis of vascular type of EDS (vEDS) was made and a conservative therapeutic approach was adopted. In addition, a comprehensive review of the international literature was carried out by applying the appropriate search terms. Results: The diagnosis of vEDS was molecularly confirmed by means of genetic testing. The patient was treated conservatively, with parenteral nutrition and supportive methods. Thirty-four cases of bowel perforation in vEDS have been reported so far. Interestingly, this case is the second one ever to report with co-existence of vEDS with Segmental Absence of Intestinal Musculature. Conclusions: Establishing the diagnosis of vEDS promptly is of vital significance in order to ensure that patients receive appropriate treatment. Due to initial non-specific clinical presentation, EDS should always be included in the differential diagnoses of young patients with unexplained perforations of the gastrointestinal tract.

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Section: Discussionmentioning

confidence: 88%

Bowel Perforation in Vascular EDS: A Case Report and a Comprehensive Review of the Literature

Menni¹,

Tzikos²,

Sarafis³

et al. 2023

Preprint

View full text Add to dashboard Cite

show abstract

“…As previously mentioned, in vEDS, there is no loss of intestinal muscle propria. The coexistence of these two isolated rare syndromes has been described only once, in a 16-year-old patient [ 38 ]. To the best of our knowledge, the index case is the second one in which the segmental absence of the intestinal muscularis and the vascular subtype of Ehlers–Danlos Syndrome coexist, increasing thereby the rarity of this case.…”

Section: Discussionmentioning

confidence: 99%

Bowel Perforation in Vascular Ehlers–Danlos Syndrome: Case Report and Comprehensive Review

Menni

Tzikos

Sarafis

et al. 2023

JPM

View full text Add to dashboard Cite

Introduction: Ehlers–Danlos syndromes (EDS) comprise a rare variety of genetic disorders, affecting all types of collagen. Herein, we describe a case of the vascular type of EDS, with coexisting segmental absence of intestinal musculature, while simultaneously performing a narrative review of the existing literature. Case Presentation: A 23-year-old male patient with a history of multiple abdominal operations due to recurrent bowel perforations and the presence of a high-output enterocutaneous fistula was admitted to our surgical department for further evaluation and treatment. After detailed diagnostic testing, the diagnosis of vascular-type EDS (vEDS) was made and a conservative therapeutic approach was adopted. In addition, a comprehensive review of the international literature was carried out by applying the appropriate search terms. Results: The diagnosis of vEDS was molecularly confirmed by means of genetic testing. The patient was treated conservatively, with parenteral nutrition and supportive methods. Thirty-four cases of bowel perforation in vEDS have been reported so far. Interestingly, this case is the second one ever to report co-existence of vEDS with Segmental Absence of Intestinal Musculature. Conclusions: Establishing the diagnosis of vEDS promptly is of vital significance in order to ensure that patients receive appropriate treatment. Due to initial non-specific clinical presentation, EDS should always be included in the differential diagnoses of young patients with unexplained perforations of the gastrointestinal tract.

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“…The present patient had a sigmoid colon perforation due to SAIM and coexisting vEDS, for which there is a high risk of intestinal perforation. Only one case of intestinal perforation in a patient with vEDS and SAIM has been reported to date, that in a child [ 12 ]. Both diseases present with tissue fragility and may be related in some way.…”

Section: Discussionmentioning

confidence: 99%

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

Funaki,

Akagi,

Shiroshita

et al. 2023

surg case rep

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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.

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Segmental Absence of Intestinal Musculature in a Child with Type IV Ehlers–Danlos Syndrome

Cited by 6 publications

References 18 publications

Bowel Perforation in Vascular EDS: A Case Report and a Comprehensive Review of the Literature

Bowel Perforation in Vascular EDS: A Case Report and a Comprehensive Review of the Literature

Bowel Perforation in Vascular Ehlers–Danlos Syndrome: Case Report and Comprehensive Review

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

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