Lisi Gabriele, Illiceto M T, Rossi C, Broto J M, Jil-Vernet J M, Lelli Chiesa P
Department of Pediatric Surgery, G.d'Annunzio University of Chieti-Pescara, Pescara, Italy.
Pediatr Surg Int. 2006 Dec;22(12):967-73. doi: 10.1007/s00383-006-1801-x.
Anal canal duplication (ACD) represents an extremely rare intestinal congenital anomaly of unknown origin. Usually evidenced within 2 years of age, nearly 45% of reported cases present associated malformations such as presacral mass, anorectal malformation (ARM) and genitourinary anomalies. The confirmative diagnosis is histopathological, with evidence of an anal mucosal lining (squamous +/- transitional epithelium), surrounded from a smooth muscle coat and anal glands. We review a conjoined experience from two European pediatric surgical departments. From 1970 to 2005, 12 patients were observed, seven in Pescara, Italy (1997-2005), five in Barcelona, Spain (1970-2004) - mean age at diagnosis 17.8 months, range 0-60; M:F = 1:11. Clinical presentation, diagnostic-surgical approach, and complications were reviewed. According to clinical presentation, patients could be divided in three age groups: asymptomatic (mean age 4.8 months, six patients - one with an associated complex genitourinary malformation, one with a presacral mature teratoma, one with ACD evidenced hysthologically on a retroanal mass removed during the correction of an ARM), mildly symptomatic - constipation, mucous discharge (mean age 29.2 months, four patients - one with associated presacral ependymoma and intestinal neuronal dysplasia type B, one with presacral mass) and complicated - perineal abscess, recurrent fistula (mean age 34 months, two patients). In 11 cases a perianal orifice was evident (ten posteriorly located). The pelvic-MRI was the preferred diagnostic tool in Pescara (5/7, with presacral mass in two patients), fistulography in Barcelona (5/5), where one presacral mass was discovered intraoperatively. Eleven patients underwent surgical removal of the ACD (five perineal approach, five posterior sagittal approach, and one PSARP). Histopathological findings confirmed the diagnosis in operated cases (11). The parents of the male patient denied the consent to surgical treatment. The only major post-operative complication was a sphincteric insufficiency (one case), surgically treated. When facing a perianal orifice, attention should be paid to ACD, particularly in female patients with coexistent genitourinary or intestinal malformations. Pelvic US and MRI are the gold standard to evidence the not rarely associated presacral mass. Surgical early removal (mucosectomy or perineal/posterior sagittal approach, depending on length of ACD and associated presacral mass) is warranted, also in asymptomatic patients, because of the risk of inflammatory complications and cancer (the latter reported in literature in adults).
肛管重复畸形（ACD）是一种极为罕见的肠道先天性异常，病因不明。通常在2岁内被发现，近45%的报告病例伴有诸如骶前肿块、肛门直肠畸形（ARM）和泌尿生殖系统异常等相关畸形。确诊依靠组织病理学检查，要有肛门黏膜内衬（鳞状上皮+/-移行上皮）的证据，其周围有平滑肌层和肛门腺。我们回顾了两个欧洲儿科外科科室的联合经验。1970年至2005年，共观察到12例患者，意大利佩斯卡拉7例（1997 - 2005年），西班牙巴塞罗那5例（1970 - 2004年），诊断时的平均年龄为17.8个月，范围为0 - 60个月；男:女 = 1:11。对临床表现、诊断 - 手术方法及并发症进行了回顾。根据临床表现，患者可分为三个年龄组：无症状组（平均年龄4.8个月，6例患者，其中1例伴有复杂泌尿生殖系统畸形，1例伴有骶前成熟畸胎瘤，1例在矫正ARM时经组织学证实肛门后肿块为ACD）、轻度症状组 - 便秘、黏液排出（平均年龄29.2个月，4例患者，其中1例伴有骶前室管膜瘤和B型肠道神经元发育异常，1例伴有骶前肿块）和复杂症状组 - 会阴脓肿、复发性瘘管（平均年龄34个月，2例患者）。11例患者有肛周开口（10例位于后方）。在佩斯卡拉，盆腔MRI是首选的诊断工具（7例中的5例，2例有骶前肿块），在巴塞罗那则是瘘管造影（5例中的5例），其中1例骶前肿块是术中发现的。11例患者接受了ACD手术切除（5例采用会阴入路术，5例采用后矢状入路术，1例采用经肛门直肠后矢状入路术）。组织病理学检查结果在手术病例（11例）中证实了诊断。男性患者的父母拒绝手术治疗同意书。唯一的主要术后并发症是括约肌功能不全（1例），已接受手术治疗。当面对肛周开口时，应注意ACD，尤其是在伴有泌尿生殖系统或肠道畸形的女性患者中。盆腔超声和MRI是发现并不罕见的相关骶前肿块的金标准。由于存在炎症并发症和癌症风险（后者在成人文献中有报道）, 即使是无症状患者，也有必要早期进行手术切除（黏膜切除术或会阴/后矢状入路术，取决于ACD的长度和相关骶前肿块情况）。
