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Obstructive Constipation in Two Patients With Severe Osteogenesis Imperfecta and Acetabular Protrusio
Erin Stockwell1,2, Maegen Wallace1,2
1From the University of Nebraska Medical Center, Omaha, NE (Dr. Stockwell and Dr. Wallace) and the University of Nebraska Medical Center, Children's Hospital and Medical Center Omaha (Dr. Wallace).
Osteogenesis imperfecta (OI) can cause severe pelvic deformities leading to constipation. Two cases show colostomy effectively treated this mechanical colonic outlet obstruction in OI patients.
Area of Science:
- Medical Genetics
- Gastroenterology
- Orthopedics
Background:
- Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by brittle bones and extraskeletal complications.
- Acetabular protrusio and chronic constipation are recognized extraskeletal manifestations of OI.
Observation:
- Two patients with severe Osteogenesis imperfecta presented with significant pelvic deformity.
- This pelvic deformity resulted in mechanical colonic outlet obstruction, causing severe constipation.
Findings:
- Both patients with severe pelvic deformity and colonic obstruction were successfully treated with a colostomy.
- This represents the first reported instance of colostomy as a definitive treatment for severe constipation in Osteogenesis imperfecta.
Implications:
- Colostomy can be a viable and effective definitive treatment for severe constipation secondary to pelvic deformity in Osteogenesis imperfecta patients.
- Highlights the importance of considering surgical interventions for complex gastrointestinal issues in rare genetic bone disorders.
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