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Document Details :
Title: Een negentienjarige jongen met een spontane sigmoïd- en leverruptuur
Author(s): VAN WOENSEL J, VAN OVERBEKE L, SPIESSENS T
Journal: Tijdschrift voor Geneeskunde
Volume: 70 Issue: 21 Date: 2014
A 19-year-old boy with a spontaneous bowel and liver rupture
A 19-year-old boy presented at the emergency department with an acute abdomen. An explorative laparotomy revealed a sigmoid perforation. The etiology remained unclear. Postoperatively, he developed an abdominal hemorrhage caused by a rupture of the hepatic artery. The boy passed away shortly afterwards. Genetic research revealed a mutation in the COL3A1 gene, coding for collagen type III. This results confirmed the diagnosis of Ehlers-Danlos syndrome type IV.
Based on this case report, an overview is given of the Ehlers-Danlos syndrome, a rare syndrome with considerable risks. The diagnosis is based on the patient’s history, the clinical features and genetic research. Given the rarity of this condition, the diagnosis is often set too late. The vascular type has the worst prognosis. Actually, no causal therapy is found and the treatment is based on supportive and preventive measures.