A novel mutation in the vascular Ehlers-Danlos syndrome: a case presenting with colonic perforations

A 15-year-old girl who had chronic constipation presented with peritonitis caused by sigmoid colon perforation. After her sigmoid colon was resected and an end colostomy performed, as there were no apparent causes for perforation, she was followed-up. After the second colonic perforation proximal to...

Full description

Saved in:
Bibliographic Details
Published in:Journal of pediatric surgery 2006-08, Vol.41 (8), p.e27-e30
Main Authors: Demirogullari, Billur, Karabulut, Ramazan, Demirtola, Arzu, Karabulut, Bilge, Gol, I. Hakki, Aybay, Cemalettin, Symoens, Sofie, Sonmez, Kaan, Basaklar, A. Can, Kale, Nuri
Format: Article
Language:English
Subjects:
Adolescent
Anastomosis, Surgical
Collagen Type III - genetics
Colonic Diseases - etiology
Colonic Diseases - surgery
Digestive System Surgical Procedures - adverse effects
Ehlers-Danlos Syndrome - complications
Ehlers-Danlos Syndrome - genetics
Fatal Outcome
Female
Humans
Ileum - surgery
Intestinal Perforation - etiology
Intestinal Perforation - surgery
Mutation, Missense
Peritonitis - etiology
Peritonitis - surgery
Rectum - surgery
Reoperation
Surgical Wound Dehiscence - etiology
Surgical Wound Dehiscence - surgery
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:A 15-year-old girl who had chronic constipation presented with peritonitis caused by sigmoid colon perforation. After her sigmoid colon was resected and an end colostomy performed, as there were no apparent causes for perforation, she was followed-up. After the second colonic perforation proximal to the end colostomy, as the pathologic findings revealed myopathic changes, the connective tissue disorders were evaluated. Her molecular biology studies revealed an undefined missense mutation in the COL3A1 gene, confirming the diagnosis of vascular Ehlers-Danlos syndrome (EDS). As she refused a permanent stoma, total colectomy and ileorectal anastomosis were performed, but the postoperative complications resulted in a fatal progression. The typical progression of vascular EDS will be discussed with the presented case by means of a review of the English medical literature on children diagnosed with vascular EDS.
ISSN:0022-3468
1531-5037
DOI:10.1016/j.jpedsurg.2006.04.009