Frontiers in pediatrics
Case Report: Spontaneous colonic rupture in a 12-year-old competitive swimmer with vascular Ehlers-Danlos syndrome
By Run K, Yuan Y, Wen X and 2 others.
Abstract
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.
Case presentation
We present a 12-year-old competitive swimmer with sudden lower abdominal pain following intensive training. Initial non-contrast CT showed bowel wall thickening and mild intraperitoneal fluid without overt perforation, leading to conservative management. Despite subjective pain improvement, her hemoglobin level declined markedly on the second hospital day. Contrast-enhanced CT showed increased free fluid and progressive bowel lesions. Emergency laparotomy revealed spontaneous rupture at the descending-sigmoid colon junction with hemoperitoneum. Given the severe intra-abdominal contamination, active hemorrhage, and unfavorable local conditions for safe primary anastomosis, Hartmann's procedure was performed. The subsequent diagnosis of vEDS further supported the appropriateness of avoiding primary anastomosis in this patient. Genetic testing identified a heterozygous pathogenic COL3A1 variant, confirming vEDS.