Jun Lim Hui, Jacobsen Anette, Rai Rambha
Department of Paediatric Surgery, KK Women's and Children's Hospital, Singapore, Singapore.
Front Surg. 2021 Jul 15;8:693587. doi: 10.3389/fsurg.2021.693587. eCollection 2021.
Anorectal malformations (ARMs) are one of the more common congenital anomalies encountered in pediatric surgery where the majority are diagnosed in the early neonatal period. The etiology of ARM remains uncertain and is likely to be multifactorial. A majority of ARMs result from abnormal development of the urorectal septum in early fetal life. There can be a broad range of presentation features varying from low anomalies with perineal fistula to high anomalies mandating intricate management. To develop a standardized system for comparison in follow-up studies, the Krickenbeck classification was introduced according to the type of fistula. According to the Krickenbeck classification of ARM, those with a rectoperineal fistula are classified as low-type ARM and are usually managed with a perineal anoplasty without colostomy. In this case series, we describe two rare cases of distinct high and intermediate ARM with rectoperineal fistulas, which were thought to be low-type ARM but were subsequently found to have urethral involvement. Our cases consisted of high and intermediate ARMs, which were successfully treated with posterior sagittal anorectoplasty as described. These cases exemplified rare variants of ARM where rectoperineal fistulas can be associated with high-type anomalies. Rare-variant ARM with rectopenile or rectoscrotal fistula can be associated with high-type anomalies in contrast to classical rectoperineal fistulas. A high index of suspicion should remain in cases with previous urinary tract infection despite normal imaging. Careful planning is also needed with consideration of possible need for urethral repair during anoplasty, which was needed in both our cases.
肛门直肠畸形（ARMs）是小儿外科中较为常见的先天性畸形之一，大多数在新生儿早期被诊断出来。ARMs的病因仍不确定，可能是多因素的。大多数ARMs是由于胎儿早期泌尿直肠隔发育异常所致。其表现特征范围广泛，从伴有会阴瘘的低位畸形到需要复杂治疗的高位畸形。为了在随访研究中建立一个标准化的比较系统，根据瘘管类型引入了克里肯贝克分类法。根据ARMs的克里肯贝克分类，有直肠会阴瘘的患者被归类为低位型ARMs，通常采用会阴肛门成形术而不进行结肠造口术治疗。在本病例系列中，我们描述了两例罕见的高位和中间位ARMs伴直肠会阴瘘的病例，这两例最初被认为是低位型ARMs，但随后发现有尿道受累。我们的病例包括高位和中间位ARMs，如所述通过后矢状位肛门直肠成形术成功治疗。这些病例例证了ARMs的罕见变异类型，其中直肠会阴瘘可与高位畸形相关。与经典的直肠会阴瘘不同，伴有直肠阴茎或直肠阴囊瘘的罕见变异型ARMs可与高位畸形相关。对于既往有尿路感染但影像学检查正常的病例，应保持高度怀疑。在进行肛门成形术时，还需要仔细规划，考虑到可能需要进行尿道修复，我们的两个病例均需要进行尿道修复。
