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Bent Out of Shape: A Case of Abdominal Pain

Praneetha Chaganti1, Jennifer H Chao

  • 1From the SUNY Downstate Medical Center; and Kings County Hospital, Brooklyn, NY.

Pediatric Emergency Care
|October 23, 2018
PubMed

Insights

Spontaneous colon perforation can be the first sign of vascular Ehlers-Danlos syndrome (vEDS) in children. Early diagnosis and surgical intervention are crucial for managing this life-threatening condition in pediatric patients.

Area of Science:

  • Pediatric Surgery
  • Genetics
  • Vascular Diseases

Background:

  • Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic connective tissue disorder.
  • Spontaneous gastrointestinal and arterial ruptures are severe complications of vEDS.
  • Diagnosis is often delayed until a critical event occurs in pediatric patients.

Observation:

  • A 9-year-old boy presented with acute abdominal pain and retching.
  • Computed tomography revealed pneumoperitoneum, indicating a perforated viscus.
  • Laparotomy confirmed a sigmoid colon perforation.

Findings:

  • The patient was diagnosed with vascular Ehlers-Danlos syndrome (vEDS).
  • Spontaneous colon perforation is a recognized, yet often missed, initial presentation of vEDS in children.
  • Literature review highlights the diagnostic challenges and critical nature of vEDS complications.

Implications:

  • Highlights the importance of considering vEDS in pediatric patients with spontaneous abdominal catastrophes.
  • Emphasizes the need for prompt imaging and surgical management to reduce mortality.
  • Underscores the necessity for increased awareness and earlier diagnostic strategies for vEDS in pediatric emergency settings.

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