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Updated: May 3, 2026

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
Published on: April 26, 2019
Visual diagnosis: 12-year-old girl with constipation and rectal bleeding
Arvind Srinath1, Danielle Wendel, Geoffrey Bond
1Pediatric Gastroenterology Fellow, Children's Hospital of Pittsburgh, Pittsburgh, PA.
Rectal duplication cysts are rare congenital anomalies. Early diagnosis and surgical resection are crucial to prevent complications like bleeding and malignant transformation, though surgical risks include incontinence.
Area of Science:
- Gastroenterology and Pediatric Surgery
- Embryology and Developmental Biology
Background:
- Rectal duplication cysts are rare congenital anomalies arising from embryologic developmental defects.
- These cysts are frequently associated with other structural abnormalities, complicating diagnosis and management.
Observation:
- Clinical presentation often includes bowel compression symptoms and rectal bleeding, indicative of ectopic gastric mucosa within the cyst.
- Diagnosis requires a high index of suspicion and can be challenging due to cyst location, necessitating various imaging modalities.
Findings:
- Diagnostic tools include digital rectal examination, CT, MRI, ultrasonography, and Meckel scans.
- Surgical resection is the primary treatment due to the risk of malignant transformation.
Implications:
- Surgical intervention carries risks, including potential fecal incontinence due to proximity to anal sphincter nerves.
- Prompt diagnosis and management are essential to mitigate complications and improve patient outcomes.
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