title: Currarino syndrome and spinal dysraphism.
abstract: Currarino syndrome is a rare constellation of congenital anomalies characterized by the triad of sacral dysgenesis, presacral mass, and anorectal malformation. It is frequently associated with other congenital anomalies, often including occult spinal dysraphism. Mutations in the MNX1 gene are identified in the majority of cases. The authors report a rare case of Currarino syndrome in an infant with tethered cord syndrome and a dorsal lipomyelomeningocele continuous with a presacral intradural spinal lipoma, in addition to an imperforate anus and a scimitar sacrum. They review the literature to highlight patterns of occult spinal dysraphism in patients with Currarino syndrome and their relationship to tethered cord syndrome. Approximately 60% of the patients with Currarino syndrome reported in the literature have an occult spinal dysraphism. Published studies suggest that the risk of tethered cord syndrome may be higher among patients with a lipoma and lower among those with a teratoma or anterior meningocele.
authors.affiliation: Department of Neurosurgery, Baylor College of Medicine;
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Kole
authors.forename: Jared S
authors.initials: JS
authors.lastname: Fridley
authors.forename: Andrew
authors.initials: A
authors.lastname: Jea
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Bollo
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery*; D001003:Anal Canal / Q000002:abnormalities* / Q000601:surgery; D004065:Digestive System Abnormalities / Q000175:diagnosis* / Q000601:surgery*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008067:Lipoma / Q000175:diagnosis / Q000601:surgery; D008279:Magnetic Resonance Imaging; D008297:Male; D008591:Meningomyelocele / Q000175:diagnosis / Q000601:surgery; D009436:Neural Tube Defects / Q000175:diagnosis* / Q000601:surgery*; D012007:Rectum / Q000002:abnormalities* / Q000601:surgery; D012447:Sacrum / Q000002:abnormalities* / Q000601:surgery; D013120:Spinal Cord Neoplasms / Q000175:diagnosis / Q000601:surgery; D016135:Spinal Dysraphism / Q000175:diagnosis* / Q000601:surgery*; D013595:Syringomyelia / Q000175:diagnosis* / Q000601:surgery*; D014157:Transcription Factors / Q000235:genetics
chemical_list: D018398:Homeodomain Proteins; C490003:MNX1 protein, human; D014157:Transcription Factors
keywords: AFP = alpha-fetoprotein; Currarino syndrome; congenital; dysraphism; lipomyelomeningocele; spina bifida occulta; tethered cord syndrome