Presacral meningocele associated with hereditary sacral agenesis and treated surgically: evaluation in three members of the same family.
OBJECTIVE
Presacral meningocele in hereditary sacral agenesis is a complex and unusual spinal dysgenetic syndrome. Recognition of the syndromic triad, its natural history, and familial presentation has important practical applications for the management of this disease as well as its complications.


METHODS
This report concerns three patients in one family with Currarino syndrome. We detail its clinical presentation, operative management, and outcome and suggest management procedures based on reports in the literature and the results of our surgical techniques, which focus on cases with an "incomplete" triad.


METHODS
Three members of the same family, one adult and two children, underwent surgery through the posterior sacral approach tying off the communication between dural sac and anterior meningocele. The adult underwent a second surgical procedure in which a custom-designed surgical technique was used to resolve postoperative cerebrospinal fluid leakage. One of the children underwent an additional posterior sagittal anorectoplasty to remove a presacral teratoma.


CONCLUSIONS
We report a rare occurrence of three familial cases of sacral agenesis accompanied by a presacral mass with various degrees of phenotypic expression and with male dominant transmission. Because of its rarity, the best surgical technique and timing remain an open question especially in cases with incomplete triad syndrome.
Marin-Sanabria
Elio Arnaldo
EA
Department of Neurosurgery, Kobe University Graduate School of Medicine, Kobe, Japan. eamarin@yahoo.com
Nagashi
Tatsuya
T
Yamamoto
Kazuki
K
Nakamura
Yoshie
Y
Aihara
Hideo
H
Kohmura
Eiji
E
D000015:Abnormalities, Multiple; D000328:Adult; D001848:Bone Diseases, Developmental / Q000473:pathology / Q000601:surgery*; D002675:Child, Preschool; D005192:Family Health; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008588:Meningocele / Q000473:pathology / Q000601:surgery*; D009436:Neural Tube Defects / Q000473:pathology / Q000601:surgery*; D019635:Neurosurgical Procedures; D012445:Sacrococcygeal Region; D012447:Sacrum / Q000473:pathology