title: Dwarfism, occult spinal dysraphism, and presacral myxopapillary ependymoma with an epidermoid cyst in a child.
abstract: The authors present a case of a child with dwarfism that was noted to be developmentally delayed. Imaging revealed atlantoaxial instability, occult spinal dysraphism, and a presacral mass. Histopathology of the presacral lesion was that of a myxopapillary ependymoma with epidermoid cyst. We believe this to be the first report in the extant medical literature of this constellation of findings in the same patient. However, there are rare reports indicating a possible association of occult spinal dysraphism and the simultaneous occurrence of spinal ependymomas. Further case reports are necessary to discern whether these pathological entities are true low rate associations that the clinician should consider in their evaluation of these patients.
authors.affiliation: Department of Cell Biology, University of Alabama at Birmingham, Pediatric Neurosurgery, Children's Hospital, Birmingham, AL 35233, USA. rstubbs@uab.edu
authors.forename: R S
authors.initials: RS
authors.lastname: Tubbs
authors.forename: D R
authors.initials: DR
authors.lastname: Kelly
authors.forename: E C
authors.initials: EC
authors.lastname: Mroczek-Musulman
authors.forename: K
authors.initials: K
authors.lastname: Braune
authors.forename: A
authors.initials: A
authors.lastname: Reddy
authors.forename: K
authors.initials: K
authors.lastname: Georgeson
authors.forename: P A
authors.initials: PA
authors.lastname: Grabb
authors.forename: W J
authors.initials: WJ
authors.lastname: Oakes
mesh_terms: D002420:Cauda Equina / Q000473:pathology; D001270:Cervical Atlas / Q000000981:diagnostic imaging / Q000473:pathology; D002675:Child, Preschool; D004392:Dwarfism / Q000150:complications*; D004806:Ependymoma / Q000150:complications* / Q000473:pathology / Q000601:surgery; D004814:Epidermal Cyst / Q000150:complications* / Q000473:pathology / Q000601:surgery; D005260:Female; D006801:Humans; D009364:Neoplasm Recurrence, Local / Q000601:surgery; D019635:Neurosurgical Procedures; D010386:Pelvic Neoplasms / Q000150:complications* / Q000473:pathology / Q000601:surgery; D011859:Radiography; D012086:Reoperation; D012447:Sacrum / Q000000981:diagnostic imaging / Q000473:pathology; D013120:Spinal Cord Neoplasms / Q000150:complications* / Q000473:pathology / Q000601:surgery; D016135:Spinal Dysraphism / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D013123:Spinal Fusion; D013595:Syringomyelia / Q000209:etiology / Q000473:pathology