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Intraperitoneal bladder rupture in a young child with vascular Ehlers-Danlos syndrome
Rahul Nanduri1, Eric Jones2, Wanda Miller-Hance3,4
1Cardiovascular Clinical Research Core, Section of Cardiology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA.
Insights
This report details a rare case of bladder rupture in a 3-year-old child with vascular Ehlers-Danlos syndrome (vEDS). Prompt surgical repair was successful, highlighting vEDS as a consideration for pediatric organ rupture.
Area of Science:
- Pediatric Surgery
- Genetics
- Vascular Disorders
Background:
- Vascular Ehlers-Danlos syndrome (vEDS), formerly Ehlers-Danlos syndrome type IV, is a genetic connective tissue disorder characterized by vascular and organ fragility.
- Patients with vEDS are prone to spontaneous arterial dissection, rupture, and visceral organ rupture, often following minimal trauma.
Observation:
- A 3-year-old child with a confirmed COL3A1 gene variant and diagnosed vEDS presented with acute abdominal pain after a minor fall.
- The child was found to have an intraperitoneal bladder rupture.
Findings:
- The intraperitoneal bladder rupture was successfully surgically repaired.
- This case represents the first documented instance of bladder rupture in a pediatric patient with vEDS and a confirmed COL3A1 gene variant.
Implications:
- This case expands the known clinical spectrum of vEDS in children.
- It underscores the risk of life-threatening organ rupture in young children with vEDS, even after minor trauma.
- Healthcare providers should consider vEDS in the differential diagnosis for pediatric patients presenting with bladder rupture.
Abstract:
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.
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