Presacral teratoma in a Curarrino syndrome woman with an unreported insertion in MNX1 gene

Objective: Currarino syndrome (CS) comprises a presacral mass, anorectal malformation, and a sacral bony defect. It is rarely reported in the gynecological field. Case Report: We describe here the case of a 26-year-old married woman with Currarino syndrome who presented with a presacral teratoma and a previously unreported insertion in MNX1 gene. She had had a pelvic teratoma diagnosed by laparoscopy 8 years previously. She was referred to our clinic because of the increasing size of the teratoma and associated compression symptoms. Computed tomography demonstrated a heterogeneous 12 cm mass in the presacral region. Spina bifida at S2eS5 was also noted. Laparotomy confirmed the diagnosis of presacral teratoma. Genetic analysis disclosed a triple CGC repeat insertion in exon 1 of MNX1, resulting in three in-frame shifts encoding for the amino acid alanine. No siblings had known similar symptoms. Conclusion: Currarino syndrome is known to be an autosomal dominant disorder. The presence of constipation can lead to a diagnosis of the syndrome early in childhood. In sporadic cases diagnosis is late because of atypical symptoms. Delayed treatment of a presacral tumor may cause serious complications such as central nervous system infection or subsequent neurological dysfunction. In clinical practice, a presacral tumor with a sacral bony defect may indicate Currarino syndrome. Genetic analysis of the family may provide information on the hereditary traits of specific MNX1 mutation.