%0 Case Reports
%T Intraperitoneal bladder rupture in a young child with vascular Ehlers-Danlos syndrome.
%A Nanduri R
%A Jones E
%A Miller-Hance W
%A Lewis AM
%A Morris SA
%J Am J Med Genet A
%V 185
%N 3
%D 03 2021
%M 33586854
%F 2.578
%R 10.1002/ajmg.a.62004
%X In this report, we present the case of a 3-year-old child with vascular Ehlers-Danlos syndrome (vEDS) previously known as Ehlers-Danlos syndrome type IV. After experiencing a minor traumatic injury to the abdomen, consisting of falling over a bathroom stool on the way to the restroom with a full bladder, the child developed acute abdominal pain. He was found to have an intraperitoneal bladder rupture that was successfully repaired with management techniques tailored to his known diagnosis of vEDS. While tissue fragility and internal organ rupture occurring with minor trauma are known complications of vEDS, this is the first case in the literature of a bladder rupture in a child with vEDS with a confirmed variant in the COL3A1 gene, to our knowledge. This case broadens the clinical presentation of vEDS, demonstrates that children can have life-threatening organ rupture at a young age, and may alert providers to consider this diagnosis when a child presents with bladder rupture.