Köchling J, Pistor G, Märzhäuser Brands S, Nasir R, Lanksch W R
Department of Pediatric Surgery, University Hospital Rudolf Virchow Berlin, Freie Universität Berlin, Germany.
Eur J Pediatr Surg. 1996 Apr;6(2):114-9. doi: 10.1055/s-2008-1066487.
The Currarino triad is a hereditary transmitted syndrome, originally defined by Currarino as ASP-association, consisting of an anorectal malformation, a sacral bony defect and a presacral mass. In most cases autosomal dominant transmission is suggested. In family members one or two features of the syndrome may be missing, indicating an incomplete form of this complex. We describe two unrelated girls at the age of 8 and 9 months respectively with ASP-association. Family screening in both patients showed 8 additional cases with a complete or incomplete Currarino triad, four of them being asymptomatic. A review of the literature up to 1991 revealed 48 patients with ASP-association. In more than 80% of cases, this complex is diagnosed in the first decade, whereas incomplete Currarino syndrome is diagnosed predominantly in adults. Most frequently the presacral mass in ASP-association was reported to be an anterior meningocele (47%) and a benign teratoma (40%). The number of patients with Currarino syndrome has been underestimated so far. We recommend anorectal examination, pelvic ultrasound and pelvic x-rays in all patients with a history of chronic constipation since early childhood. Positive findings should lead to further investigations such as barium enema, MRI, myelography and family screening. Close cooperation between pediatric surgeons and neurosurgeons is required to ensure adequate surgical treatment, considering both the risk of malignant degeneration as well as the risk of intraoperative nerve damage. Thus, radical excisional surgery is not obligatory in every case of Currarino syndrome.
库拉里诺三联征是一种遗传性综合征，最初由库拉里诺定义为肛门直肠畸形、骶骨骨质缺损和骶前肿物综合征，最初定义为ASP综合征。大多数病例提示为常染色体显性遗传。在家庭成员中，该综合征的一个或两个特征可能缺失，表明这种复合体存在不完全形式。我们分别描述了两名年龄为8个月和9个月的无血缘关系的患有ASP综合征的女童。对两名患者的家族筛查显示，另有8例患有完全或不完全库拉里诺三联征，其中4例无症状。对截至1991年的文献回顾显示，有48例ASP综合征患者。在超过80%的病例中，这种复合体在第一个十年被诊断出来，而不完全库拉里诺综合征主要在成年人中被诊断出来。据报道，ASP综合征中最常见的骶前肿物是前脑脊膜膨出（47%）和良性畸胎瘤（40%）。到目前为止，库拉里诺综合征患者的数量一直被低估。我们建议对所有自幼有慢性便秘病史的患者进行肛门直肠检查、盆腔超声检查和盆腔X光检查。阳性结果应导致进一步检查，如钡灌肠、核磁共振成像、脊髓造影和家族筛查。考虑到恶性退变风险以及术中神经损伤风险，小儿外科医生和神经外科医生之间需要密切合作，以确保进行充分的手术治疗。因此，并非每个库拉里诺综合征病例都必须进行根治性切除手术。
