EP.FRI.719 Gastric Perforation Leading to The Diagnosis of Classic Ehlers Danlos syndrome: A Case Report of an Unusual Presentation

Abstract

Abstract Background Ehlers-Danlos syndromes (EDS) are clinically and genetically heterogeneous group of heritable connective tissue disorders caused by defective collagen synthesis or structure. Vascular subtype (EDS IV) is reported to be associated with a higher incidence of gastrointestinal ruptures. The Most reported site of perforation was the colon particularly the sigmoid colon followed by small bowel. It is very rare to have stomach perforation. There were no reported cases among classic type I and II. In addition, this patient presented with Marfanoid habitus which may develop acute gastric volvulus in combined with pre-existing EDS, perforation can occur. Case description A 14-year-old girl attended our Emergency Department (ED) with abdominal pain and vomiting. Initially diagnosed with gastroenteritis and discharged once her condition improved. 24 hours later, she developed severe abdominal pain with recurrent vomiting with peritonitis evident on clinical examination. Initial KUB failed to show any free air, however, enhanced Computed Tomography (CT) revealed free air and proximal gut contrast extravasation. During exploratory laparotomy, an ischemia anterior and posterior gastric wall with gastric perforation was encountered. A free-hand partial gastrectomy was done. Her post-operative period was complicated with wound infection that managed successfully with Vacuum-assisted closure (VAC) dressing. She recovered well without gastrointestinal sequelae in 4 years follow up. Conclusions A high level of suspicion must be maintained for heritable systemic connective tissue diseases in any young patient with unusual spontaneous perforation. As these patients can develop life-threatening conditions, immediate intervention is required in addition to prepare for anticipated complications.