Currarino syndrome with two synchronous presacral teratomas

Abstract

Currarino syndrome is rare and consists of an anorectal malformation, a sacrococcygeal bony defect and a presacral mass. Each feature is present to a variable degree in affected individuals. The syndrome develops as a result of a heterozygous mutation in the MNX1 gene on chromosome 7q36, causing aberrant neurulation at the caudal end of the embryonic notochord. The presacral mass is most often an anterior myelomeningocele or presacral teratoma, but various other tumors have been recorded. We report a child with Currarino syndrome and two synchronous presacral teratomas. The existence of more than one synchronous presacral teratoma has not previously been described in this syndrome. This supports the concept of a developmental “field defect” in which the bones, soft tissues, and neural elements in the sacrococcygeal region may be affected. Rare documented recurrence after apparent complete excision of a benign presacral teratoma could alternatively represent the development of a further presacral teratoma from another focus, rather than suboptimal primary surgery. Clinicians not only need to be mindful of the possibility of dual presacral pathologies in the Currarino syndrome e.g. an anterior myelomeningocele and a presacral teratoma, but also of the rare possibility of more than one presacral teratoma. Keywords: Currarino triad, Sacrococcygeal teratoma, Anorectal malformation