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[库拉里诺三联征。一种常染色体显性遗传的肛门直肠畸形、骶尾部缺损和骶前肿瘤的复杂综合征。另外9例病例观察]

[The Currarino triad. An autosomal-dominant inherited complex of anorectal malformation, sacrococcygeal defect and presacral tumor. Observation of 9 further cases].

作者信息

Holthusen W, Birtel T, Brinkmann B, Gunkel J, Janneck C, Richter E

出版信息

Rofo. 1985 Jul;143(1):83-9. doi: 10.1055/s-2008-1052764.

Abstract

Nine cases of a syndrome are described, which is known as the "Currarino triad" and which belongs to the group of malformations in which there is a persistent neurenteric communication. The features of the triad consist of ano-rectal anomalies (particularly ano-rectal stenoses), a curved, but limited, sacro-coccygeal defect ("scimitar sacrum") and a presacral tumour, which may be an anterior sacral meningocoele, a teratoma, a cyst (dermoid or neurenteric a cyst (dermoid or neurenteric cyst) or a mixture of these. In at least 50% of cases, the triad is familial and autosomal dominant. Of our nine cases, seven were familial. A dangerous complication is meningitis due to infection of the cystic component, or fistula formation between the colon and spinal canal (one of our cases). Other complications are a fixed filum terminale ("tethered cord") and malformations of the urogenital tract. The risk of malignancy in a teratoma is low, but exists. When considering the indications for surgery, this must be kept in mind, as must the risk of infection, and damage to neural structures during operation. In all cases of early obstipation the sacrum should be x-rayed in order to exclude a Currarino triad. The finding of a sacral defect and a presacral mass makes it essential to obtain CT of the pelvis with contrast in the distal gut and in the meningeal sac. The same is true for screening of the family (including views of the sacrum).

摘要

本文描述了9例一种被称为“库拉里诺三联征”的综合征病例,该综合征属于存在持续性神经肠管沟通的畸形组。三联征的特征包括肛门直肠畸形(特别是肛门直肠狭窄)、弯曲但有限的骶尾骨缺损(“弯刀状骶骨”)和骶前肿瘤,后者可能是骶前脊膜膨出、畸胎瘤、囊肿(皮样囊肿或神经肠管囊肿)或这些的混合。至少50%的病例中,该三联征为家族性且呈常染色体显性遗传。我们的9例病例中,7例为家族性。一种危险的并发症是由于囊性成分感染导致的脑膜炎,或结肠与椎管之间形成瘘管(我们的1例病例)。其他并发症包括终丝固定(“脊髓栓系”)和泌尿生殖道畸形。畸胎瘤存在恶变风险,虽低但确实存在。在考虑手术指征时,必须牢记这一点,以及感染风险和手术过程中对神经结构的损伤。对于所有早期便秘病例,均应进行骶骨X线检查以排除库拉里诺三联征。发现骶骨缺损和骶前肿块后,必须进行骨盆CT检查,并对远端肠道和脑脊膜囊进行造影。对家族进行筛查时也是如此(包括骶骨检查)。

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