[Visceral perforations in a child with Ehlers-Danlos syndrome type IV].

Abstract

The vascular type IV of Ehlers–Danlos syndrome is an autosomal dominant connective tissue disorder, the diagnosis of which is often delayed. Severe complications: arterial rupture or colon perforation may rarely occur already in childhood. We present a five-year-old child who developed bowel and bladder ruptures. He was admitted with severe abdominal pain and muscle defense. He had a history of chronic constipation, recurrent complaints of dysuria and suffusions. Based on clinical signs and imaging, acute surgery was indicated. A 3 mm perforation was found at the rectosigmoid part of the bowel. Weakness of the bowel due to chronic constipation, Hirschsprung’s disease, abuse, inflammatory bowel disease and connective tissue disorder have been raised as possible diagnoses. The excessive connective tissue fragility in several family members raised the possibility of Ehlers–Danlos syndrome. Indeed, a missense COL3A1 variant (p.Arg449Leu) was identified that segregated with the disease in the family. Six months later, a bladder diverticulum was found by cystoscopy. Spontaneous bladder rupture occurred on the fourth postoperative day. After suturing the defect, the child completely recovered. Ehlers–Danlos syndrome may present as a life-threatening condition already in childhood. It is important to recognize this rare genetic disorder and follow up the patient. Patients should avoid exertion. Colonoscopy and cystoscopy are relatively contraindicated. Orv Hetil. 2025; 166(1): 27–32.