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[Spontaneous colonic perforations revealing Ehlers-Danlos syndrome type IV]
1Service de chirurgie pédiatrique, centre de la Mère et de l'Enfant, Le Parc, Colmar, France.
Background:
The malignant form of Ehlers-Danlos syndrome type IV owes its bad reputation to a proneness to spontaneous rupture of bowel or large vessels, which may reveal the disease.
Case Report:
A girl suffered acute rupture of the sigmoid at the age of 5 years and rupture of the left colon, twice, at the age of 11 and 13 years, respectively. These ruptures required colostomy and finally colectomy. A proneness to bruisability, history of dislocation of hips, hypermobile joints, ovarian cysts and some minor abnormalities of her face resembled that of the Ehlers-Danlos syndrome which was confirmed by optic and electronic microscopy of the skin biopsy.
Conclusion:
This is the youngest case of rupture of bowel reported in Ehlers-Danlos syndrome. Long-term prognosis is influenced by repetition of intestinal ruptures and occurrence of vascular complications.