Zhang Yixin, Zhang Mo, Ma Wei, Yuan Zhengwei, Wang Dajia, Chen Lizhu
Department of Ultrasound, Shengjing Hospital of China Medical University, Shenyang, China.
Department of Urology, The First Hospital of China Medical University, Shenyang, China.
Front Med (Lausanne). 2023 Jan 12;9:1066559. doi: 10.3389/fmed.2022.1066559. eCollection 2022.
Congenital perineal hamartomas are rare, and reports of prenatal ultrasound diagnosis are limited. Perineal hamartomas are usually associated with other structural malformations, which complicate the therapeutic regime.
We report a case of perineal hamartomas associated with rectal duplication in a female fetus. A review of the literature on similar cases was also presented. A fetus was first diagnosed with a perineal mass at 33 weeks of gestation using ultrasound examination in our hospital. Two-dimensional ultrasonography showed a hyperechoic mass resembling a scrotum in the perineum of the fetus. The pedicle connected the mass to the fetal anus. The masses were excised after birth, and perineal hamartomas were confirmed by pathological diagnosis. Rectal duplication, an associated malformation, was found during the surgery. The rectal duplication cyst was removed at the same time.
Congenital perineal masses are rare and are usually associated with urogenital and anorectal malformations. Prenatal ultrasound should be used to assess the position and relationship between the mass and perineal organs, and to exclude other combined deformities.
先天性会阴错构瘤较为罕见，产前超声诊断的报道有限。会阴错构瘤通常与其他结构畸形相关，这使治疗方案变得复杂。
我们报告一例女性胎儿会阴错构瘤合并直肠重复畸形的病例。同时还对类似病例的文献进行了综述。我院一名胎儿在妊娠33周时通过超声检查首次被诊断为会阴肿物。二维超声显示胎儿会阴处有一个类似阴囊的高回声肿物。蒂将肿物与胎儿肛门相连。出生后肿物被切除，病理诊断证实为会阴错构瘤。手术中发现相关畸形——直肠重复畸形。同时切除了直肠重复囊肿。
先天性会阴肿物罕见，通常与泌尿生殖系统及肛肠畸形相关。产前超声应用于评估肿物与会阴器官的位置及关系，并排除其他合并畸形。
