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INTRODUCTION: Ehlers-Danlos syndromes (EDS) comprise a rare variety of genetic disorders, affecting all types of collagen. Herein, we describe a case of the vascular type of EDS, with coexisting segmental absence of intestinal musculature, while simultaneously performing a narrative review of the existing literature. CASE PRESENTATION: A 23-year-old male patient with a history of multiple abdominal operations due to recurrent bowel perforations and the presence of a high-output enterocutaneous fistula was admitted to our surgical department for further evaluation and treatment. After detailed diagnostic testing, the diagnosis of vascular-type EDS (vEDS) was made and a conservative therapeutic approach was adopted. In addition, a comprehensive review of the international literature was carried out by applying the appropriate search terms. RESULTS: The diagnosis of vEDS was molecularly confirmed by means of genetic testing. The patient was treated conservatively, with parenteral nutrition and supportive methods. Thirty-four cases of bowel perforation in vEDS have been reported so far. Interestingly, this case is the second one ever to report co-existence of vEDS with Segmental Absence of Intestinal Musculature. CONCLUSIONS: Establishing the diagnosis of vEDS promptly is of vital significance in order to ensure that patients receive appropriate treatment. Due to initial non-specific clinical presentation, EDS should always be included in the differential diagnoses of young patients with unexplained perforations of the gastrointestinal tract.
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BACKGROUND: Percutaneous endoscopic gastrostomy (PEG) is a well-established, minimally invasive, and easy to perform procedure for nutrition delivery, applied to individuals unable to swallow for various reasons. PEG has a high technical success rate of insertion between 95% and 100% in experienced hands, but varying complication rates ranging from 0.4% to 22.5% of cases. AIM: To discuss the existing evidence of major procedural complications in PEG, mainly focusing on those that could probably have been avoided, had the endoscopist been more experienced, or less self-confident in relation to the basic safety rules for PEG performance. METHODS: After a thorough research of the international literature of a period of more than 30 years of published "case reports" concerning such complications, we critically analyzed only those complications which were considered - after assessment by two experts in PEG performance working separately - to be directly related to a form of malpractice by the endoscopist. RESULTS: Malpractice by the endoscopist were considered cases of: Gastrostomy tubes passed through the colon or though the left lateral liver lobe, bleeding after puncture injury of large vessels of the stomach or the peritoneum, peritonitis after viscera damage, and injuries of the esophagus, spleen, and pancreas. CONCLUSION: For a safe PEG insertion, the overfilling of the stomach and small bowel with air should be avoided, the clinician should check thoroughly for the proper trans-illumination of the light source of the endoscope through the abdominal wall and ensure endoscopically visible imprint of finger palpation on the skin at the center of the site of maximum illumination, and finally, the physician should be more alert with obese patients and those with previous abdominal surgery.
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Buried bumper syndrome (BBS) is the situation in which the internal bumper of the gastrostomy tube, due to prolonged compression of the tissues between the external and the internal bumper, migrates from the gastric lumen into the gastric wall or further, into the tract outside the gastric lumen, ending up anywhere between the stomach mucosa and the surface of the skin. This restricts liquid food from entering the stomach, since the internal opening is obstructed by gastric mucosal overgrowth. We performed a comprehensive search of the PubMed literature to retrieve all the case-reports and case-series referring to BBS and its management, after which we focused on the endoscopic techniques for releasing the internal bumper to re-establish the functionality of the tube. From the "push" and the "push and pull T" techniques to the most sophisticated-using high tech instruments, all 10 published techniques have been critically analysed and the pros and cons presented, in an effort to optimize the criteria of choice based on maximum efficacy and safety.