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Congenital perineal hamartomas with rectal duplication: A case report
Yixin Zhang1, Mo Zhang2, Wei Ma3
1Department of Ultrasound, Shengjing Hospital of China Medical University, Shenyang, China.
Frontiers in Medicine
|January 30, 2023
Summary
Congenital perineal hamartomas are rare but can be diagnosed prenatally via ultrasound. This case highlights a perineal hamartoma associated with rectal duplication in a fetus.
Area of Science:
- Medical imaging
- Fetal medicine
- Pediatric surgery
Background:
- Congenital perineal hamartomas are rare developmental anomalies.
- Prenatal diagnosis of these masses is infrequently reported.
- Often associated with other structural malformations, complicating treatment.
Observation:
- A female fetus diagnosed with a perineal mass at 33 weeks gestation via ultrasound.
- The mass appeared as a hyperechoic, scrotum-like structure connected to the fetal anus.
- Associated rectal duplication was identified during surgical excision.
Findings:
- Pathological diagnosis confirmed perineal hamartomas.
- Surgical excision of both the hamartoma and the rectal duplication cyst was successful.
- Demonstrates the utility of prenatal ultrasound in identifying complex congenital anomalies.
Implications:
- Highlights the importance of prenatal ultrasound in evaluating congenital perineal masses.
- Emphasizes the need to assess for associated urogenital and anorectal malformations.
- Informs surgical planning and management for these rare conditions.
