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

Abstract

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.

• Authors: Yi-Hsin Lin, Rui-Lan Huang, Hung-Cheng Lai
• Journal: Taiwanese journal of obstetrics & gynecology (Taiwan J Obstet Gynecol) Vol. 50 Issue 4 Pg. 512-4 (Dec 2011) ISSN: 1875-6263 [Electronic] China (Republic : 1949- )
• PMID: 22212327 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2011. Published by Elsevier B.V.

Chemical References

• Homeodomain Proteins
• MNX1 protein, human
• Transcription Factors

Topics

• Abnormalities, Multiple (diagnosis, genetics)
• Adult
• Anal Canal (abnormalities)
• Digestive System Abnormalities (diagnosis, genetics)
• Female
• Homeodomain Proteins (genetics)
• Humans
• Mutagenesis, Insertional
• Pelvic Neoplasms (diagnosis, genetics)
• Rectum (abnormalities)
• Sacrococcygeal Region
• Sacrum (abnormalities)
• Spinal Dysraphism (diagnosis, genetics)
• Syringomyelia (diagnosis, genetics)
• Teratoma (diagnosis, genetics)
• Transcription Factors (genetics)