Trust Your Instinct-Lower Intestinal Bleeding Caused by Ehlers-Danlos-Syndrome.

ABSTRACT

We report a 2.5-year-old boy who was presented with acute lower gastrointestinal bleeding. Emergency endoscopy showed two active mucosal bleeding sites that were successfully clipped. Initially, multiple intestinal angiodysplasias were considered, ruled out by a second control endoscopy. Here, multiple superficial lesions were observed that bled upon contact by the endoscope, suggestive of connective tissue disorder. However, the patient showed no clinical dysmorphias, only hypermobility of the toes but no other symptoms typical for such disorders. Gene testing for Ehlers-Danlos-syndrome (EDS) revealed a pathogenic mutation in the COL3A1 causing loss-of-function of type 3-collagen. Thus, diagnosis of EDS type IV was established. Overall, EDS is a rare cause for intestinal bleeding in children, even in children with no other clinical symptoms. This case is the earliest presentation of EDS type IV with intestinal complications.