Case Report: Spontaneous colonic rupture in a 12-year-old competitive swimmer with vascular Ehlers-Danlos syndrome

Introduction

Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder caused by COL3A1 pathogenic variants, characterized by pronounced fragility of arteries, intestines, and uterus. Spontaneous colonic rupture in pediatric patients is extremely rare and easily misdiagnosed. Definitive diagnosis remains challenging in patients with nonspecific phenotypes. Molecular genetic testing is essential for diagnostic confirmation and may inform genotype-associated risk assessment.