Torres R, Levitt M A, Tovilla J M, Rodriguez G, Peña A
Department of Surgery Long Island Jewish Medical Center, New Hyde Park, NY 11040, USA.
J Pediatr Surg. 1998 Feb;33(2):194-7. doi: 10.1016/s0022-3468(98)90430-4.
BACKGROUND/PURPOSE: Down's syndrome is a common association in patients with anorectal malformations. The purpose of this study was to determine whether the anorectal defect in patients with Down's syndrome had specific characteristics and whether the presence of Down's syndrome represented a serious detriment to the patient's functional prognosis.
Nine hundred eighty-seven patients with anorectal malformations were studied retrospectively. Twenty patients (2%) had Down's syndrome. Nineteen of these (95%) had the same specific type of anorectal defect: imperforate anus with no fistula. This defect has a good prognosis, the rectum is located about 2 cm above the perineal skin, the sacrum is normal, and the sphincter mechanism is good. For comparison, a group of 34 patients with the same defect but without Down's syndrome was also studied. All patients were operated on via posterior sagittal approach by the same surgeon.
Imperforate anus without fistula occurs in 5% of all patients with anorectal malformations and in 95% of those patients who also suffer from Down's syndrome. The characteristics of the defect were the same in both groups of patients, and surprisingly, the prognosis was good in both groups (80% to 96% of patients had voluntary bowel movement, 100% had urinary continence).
The association of Down's syndrome with imperforate anus without fistula is not coincidental. This particular benign defect can be predicted to occur in most patients with Down's syndrome. The presence of Down's syndrome in cases of anorectal malformations should not be a contraindication to repairing the imperforate anus and to closing the colostomy.
背景/目的：唐氏综合征常与肛门直肠畸形患者相关联。本研究的目的是确定唐氏综合征患者的肛门直肠缺陷是否具有特定特征，以及唐氏综合征的存在是否对患者的功能预后构成严重不利影响。
对987例肛门直肠畸形患者进行回顾性研究。20例（2%）患者患有唐氏综合征。其中19例（95%）具有相同类型的特定肛门直肠缺陷：无瘘的肛门闭锁。这种缺陷预后良好，直肠位于会阴皮肤上方约2厘米处，骶骨正常，括约肌功能良好。为作比较，还研究了一组34例具有相同缺陷但无唐氏综合征的患者。所有患者均由同一位外科医生通过后矢状入路进行手术。
无瘘的肛门闭锁在所有肛门直肠畸形患者中占5%，在同时患有唐氏综合征的患者中占95%。两组患者的缺陷特征相同，而且令人惊讶的是，两组患者的预后均良好（80%至96%的患者能自主排便，100%能控制排尿）。
唐氏综合征与无瘘的肛门闭锁之间的关联并非偶然。这种特定的良性缺陷在大多数唐氏综合征患者中可以预测会出现。肛门直肠畸形病例中存在唐氏综合征不应成为修复肛门闭锁和关闭结肠造口术的禁忌证。
