Gastric perforation leading to the diagnosis of classic Ehlers-Danlos syndrome: a case report.

BACKGROUND: Ehlers-Danlos syndrome is a clinically and genetically heterogeneous group of heritable connective tissue disorders caused by a defect in collagen synthesis and structure. The vascular subtype (Ehlers-Danlos syndrome IV) is reported to be associated with a higher incidence of gastrointestinal perforations. The most reported site of perforation is the colon, followed by the small bowel. Perforation of the stomach is very rare, and there are no reported cases to date of classic types I and II. CASE PRESENTATION: We present the case of a 14-year-old Saudi girl who visited our emergency department with abdominal pain and vomiting. Initially, she was diagnosed with gastroenteritis and discharged once her condition stabilized. After 48 hours, she developed severe abdominal pain with recurrent vomiting and peritonitis evident on clinical examination. Initial abdominal x-ray failed to show any free air; however, enhanced computed tomography revealed free air and contrast extravasation in the proximal gut. During exploratory laparotomy, a large perforation was found on the anterior wall of the stomach due to the underlying ischemia. The posterior wall had ischemic mucosa with an intact healthy serosa. A free-hand partial gastrectomy was performed to resect all ischemic parts of the stomach. Detailed examinations and laboratory workup were carried out after the surgery to figure out the possible underlying cause. The clinical findings during the physical examination supported marfanoid features. Marfan's syndrome and related disorders sequencing panel was requested, and Deoxyribonucleic acid (DNA) samples were sent. Given results were supporting the diagnosis of classical Ehlers-Danlos syndrome, the patient was labeled as a case of Ehlers-Danlos syndrome. During the postoperative period, she developed a wound infection that was managed successfully with vacuum-assisted closure dressing. She recovered well without gastrointestinal sequelae in the 4 years of follow-up. CONCLUSIONS: Heritable systemic connective tissue diseases must be given serious consideration in young patients with unusual spontaneous perforation. Such patients might develop life-threatening conditions that require immediate intervention. Hence, correct and timely diagnosis is important to prepare for the anticipated complications.

Combined laparoscopic and posterior approach resection of large sacrococcygeal cystic teratoma.

BACKGROUND: Teratoma is a true neoplasm and originates from the three germ cell layers and it can contain any tissue derived from these layers. The location of teratoma is variable according to the age group. In adults, sacrococcygeal teratoma is rare and carries a low risk of malignant transformation. Surgical resection is the mainstay of treatment and is challenging due to tumor location. CASE PRESENTATION: We are presenting a case report of a 16-year old female referred to our hospital with recurrent attacks of urine retention. Imaging study showed a large sacrococcygeal tumor. It was successfully resected by a combined laparoscopic and posterior approach without any major complication. CONCLUSION: The combined laparoscopic and posterior approach is a safe surgical technique for resection of the large sacrococcygeal tumor. This surgical method has been published around 10 times in separated reports around the world and for first time in our region.