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

Demirogullari B., Karabulut R., Demirtola A., Karabulut B., Gol I. H., Aybay C., ...Daha Fazla

JOURNAL OF PEDIATRIC SURGERY, cilt.41, sa.8, 2006 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 41 Sayı: 8
  • Basım Tarihi: 2006
  • Doi Numarası: 10.1016/j.jpedsurg.2006.04.009
  • Dergi Adı: JOURNAL OF PEDIATRIC SURGERY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: Ehlers-Danlos syndrome type IV, vascular Ehlers-Danlos syndrome, intestinal perforation, childhood, SYNDROME TYPE-IV, MANAGEMENT, GIRL
  • Gazi Üniversitesi Adresli: Evet

Özet

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 COL3AI 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.