Die Currarino-Triade: Ein autosomal-dominant erblicher Komplex von anorektaler Mißbildung, Sakrokokzygealdefekt und präsakralem Tumor

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).

Inheritance of familial congenital isolated anorectal malformations: Case report and review

“…According to the authors, this phenotype suggests an autosomal-dominant trait with variable expression. The Currarino triad (OMIM 176450), consisting of anorectal anomalies, sacrococcygeal defect, and presacral tumor, also was described as an autosomal-dominant trait by Holthusen et al [1985]. Of the two anatomical types, the low form of ARM is more common and less frequently associated with other anomalies.…”

Currarino-Syndrom: Variabilität der bildgebenden Befunde bei 22 molekulargenetisch identifizierten (HLXB9-Mutation) Patienten aus fünf Familien

“…Für die Diagnose wegweisend ist der nativradiologische, bei jüngeren Kindern eventuell primär sonographische Nachweis eines knöchernen sakrokokzygealen Defektes, im typischen Fall eines sog. Scimitar-Sakrums [3,5,9,10]. Neben den klassischen Befunden muss die bildgebende Dokumentation eines Currarino-Syndroms auch zusätzliche weitere fakultative spinale und urogenitale Veränderungen mit berücksichtigen [5,9].…”

The spectrum of imaging in Currarino triad

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IntroductionCurrarino triad (also called the ASP syndrome) is a rare and in more than 50 % of cases hereditary autosomaldominant complex of anorectal malformation (anal stenosis and atresia), sacrococcygeal defect and a presacral mass (anterior meningocele, teratoma, dermoid cyst and enteric duplication cyst) [1,2]. Embryologically, the Currarino triad is classified to the spectrum of ªsplit notochord syndromeº or ªpersistent neurenteric communicationsº [3,4].

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