Abdominal Aortic Pseudoaneurysm: A Rare Presentation of an Uncommon Disease.

BACKGROUND

Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder characterized by arterial fragility and life-threatening vascular complications. Presentation in pediatric age group patients remains rare and is therefore not well characterized.

CASE SUMMARY: A 14-year-old man presented with severe abdominal and back pain. Imaging revealed a posterior abdominal aortic pseudoaneurysm with retroperitoneal hemorrhage and progressive aortic wall thickening. He underwent urgent open repair with Dacron interposition grafting and visceral artery reconstruction. Postoperative course was complicated by transverse colon perforation requiring partial colectomy and ostomy, as well as left nephrectomy due to renal infarct. Genetic testing identified a novel likely pathogenic collagen type III alpha 1 chain sequence variation, confirming vEDS.

DISCUSSION: This case highlights a severe early-onset phenotype of vEDS and underscores the importance of early recognition, serial imaging, and multidisciplinary management.

TAKE-HOME MESSAGE: Unexplained aneurysms/pseudoaneurysms in young patients should raise suspicion for vEDS; early surgery and multidisciplinary care are essential.