A rare case of perineal hamartoma associated with cryptorchidism and imperforate anus: case report

A full-term male neonate with anorectal anomaly and external perineal anomalies was referred to our service. Physical examination showed an epithelized perineal mass with cutaneous orifices, which had urine fistulization, hipotrofic perineal musculature, bilateral congenital clubfoot, hipospadic urethra, criptorquidy bilateral with nonpalpable testis and imperforate anus. A colostomy was constructed immediately after birth. The child underwent excision of perineal mass, bilateral orchidopexy, Duplay neourethroplasty and coloanal anastomosis at 3 months of age. The histopathological examination of the perineal mass revealed a hamartoma.

本例为一名因肛门直肠畸形（anorectal anomaly）合并外会阴畸形（external perineal anomalies）转诊至我科的足月男性新生儿。体格检查可见上皮化会阴肿物（epithelized perineal mass）伴皮肤窦口（cutaneous orifices），该肿物存在尿瘘（urine fistulization），同时合并会阴肌发育不良（hipotrofic perineal musculature）、双侧先天性马蹄内翻足（bilateral congenital clubfoot）、尿道下裂（hipospadic urethra）、双侧隐睾且睾丸未触及（bilateral cryptorchidism with nonpalpable testis）以及肛门闭锁（imperforate anus）。患儿出生后即刻接受了结肠造口术（colostomy），于3月龄时行会阴肿物切除术（excision of perineal mass）、双侧睾丸固定术（bilateral orchidopexy）、Duplay尿道成形术（Duplay neourethroplasty）及结肠肛管吻合术（coloanal anastomosis）。对该会阴肿物的组织病理学检查（histopathological examination）结果提示为错构瘤（hamartoma）。