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.


METHODS
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.


CONCLUSIONS
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.
Department of Obstetrics and Gynecology, National Defense Medical Center, Taipei, Taiwan.
Yi-Hsin
YH
Lin
Rui-Lan
RL
Huang
Hung-Cheng
HC
Lai
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D001003:Anal Canal / Q000002:abnormalities; D004065:Digestive System Abnormalities / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D016254:Mutagenesis, Insertional; D010386:Pelvic Neoplasms / Q000175:diagnosis* / Q000235:genetics; D012007:Rectum / Q000002:abnormalities; D012445:Sacrococcygeal Region; D012447:Sacrum / Q000002:abnormalities; D016135:Spinal Dysraphism / Q000175:diagnosis* / Q000235:genetics; D013595:Syringomyelia / Q000175:diagnosis* / Q000235:genetics; D013724:Teratoma / Q000175:diagnosis* / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics*
D018398:Homeodomain Proteins; C490003:MNX1 protein, human; D014157:Transcription Factors