Currarino triad with Mullerian duct anomaly in mother and daughter without MNX1 gene mutation

The Currarino triad is a unique complex of congenital caudal anomalies, including anorectal malformation, sacral bony defect and presacral mass. This triad may be associated with Mullerian duct anomalies, such as duplication of the vagina and uterus. Each of these diseases has a familial tendency and sometimes coexist within families. But, when coexisting in familial cases, nearly all reported cases revealed mutations of the motor neuron and pancreas homeobox 1 (MNX1) gene. Familial cases of Currarino triad combined with Mullerian duct anomaly without MNX1 gene mutation are very rare. Here we report cases of mother and daughter, who had Currarino triad and Mullerian duct anomaly without MNX1 gene mutation, along with a brief literature review.

Currarino Triad

The authors report a case of Currarino triad which had a congenital anorectal stenosis associated with a sacral defect and a presacral mass. A 1-year-old female presented with constipation since birth. Neurological deficits were not found on admission. She had had a diverting colostomy due to anorectal stenosis at another hospital before admission. Lumbar X-ray films showed bony defect caudal to the third sacral vertebra. Magnetic resonance image demonstrated a round cystic pelvic mass which was connected with a dural sac via anterior sacral defect. Posterior approach with Intradural removal of the presacral cystic mass was performed and followed by anoplasty by a pediatric surgeon. The cystic mass was verified histologically as mature teratoma with cystic change. Postoperatively, the urinary function and bowel movement remained intact. Currarino triad should be suspected and evaluated physically and radiographically in a case of congenital anorectal stenosis. Prompt recognition and close cooperation between pediatric surgeons and neurosurgeons is advisable to ensure adequate surgical treatment.

Currarino Triad

The authors report a case of Currarino triad which had a congenital anorectal stenosis associated with a sacral defect and a presacral mass. A 1-year-old female presented with constipation since birth. Neurological deficits were not found on admission. She had had a diverting colostomy due to anorectal stenosis at another hospital before admission. Lumbar X-ray films showed bony defect caudal to the third sacral vertebra. Magnetic resonance image demonstrated a round cystic pelvic mass which was connected with a dural sac via anterior sacral defect. Posterior approach with Intradural removal of the presacral cystic mass was performed and followed by anoplasty by a pediatric surgeon. The cystic mass was verified histologically as mature teratoma with cystic change. Postoperatively, the urinary function and bowel movement remained intact. Currarino triad should be suspected and evaluated physically and radiographically in a case of congenital anorectal stenosis. Prompt recognition and close cooperation between pediatric surgeons and neurosurgeons is advisable to ensure adequate surgical treatment.

Currarino Triad / 대한소아소화기영양학회지

Currarino triad is a hereditary condition diagnosed when three abnormalities are noted: (1) an anorectal malformation; (2) an anterior sacral defect and (3) a presacral mass. We experienced 3 cases of Currarino triad with severe constipation. All cases had presacral mass and sacral bony defect. One case had rectovaginal fistula, other one case had holoprosencephaly. Presacral masses were lipomeningomyelocele and epidermoid or dermoid cyst. We report three cases of Currarino triad with brief review of the related literature.

Presacral Mass in Currarino Triad: Case Report

The Currarino triad is a unique complex of congenital caudal anormalies including anorectal malformation, sacral bony abnormality, and presacral mass. Histologically the presacral mass has been identified as a meningocele, teratoma, enteric duplication or a combination of this. A Case of female infant with this triad was presented and was successfully treated by surgery. The presacral mass was a lipomyelomeningocele. The clinical features, unique radiologic findings, and importance of a correct diagnosis of currarino triad were reviewed.