title: Syringomyelia in hereditary multiple exostosis.
abstract: We describe five children with Hereditary Multiple Exostosis (HME) who also had syringomyelia. Of these, four had a tethered cord/fibrolipoma. No spinal osteochondromas were found in these patients. All had antecedent neurological signs or symptoms that prompted spinal imaging with MRI. Of all patients with HME seen in the Midwest Regional Bone Dysplasia Clinic from 1982 to present, 44% (17/39) of patients had signs or symptoms concerning for possible cord-related neurological findings. However, only 10 of 39 had spinal imaging. Assuming that all individuals with syringomyelia were identified, then 5/39 (13%) were in that way affected. This, of course, is a minimal estimate given that many were not imaged. The incidence of syringomyelia appears to be increased in this population, and seems to be unrelated to spinal osteochondromas. A low threshold for obtaining spinal MRI in patients with Hereditary Multiple Exostosis seems rational. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin, Madison, Wisconsin. jmlegare@pediatrics.wisc.edu.
authors.forename: Janet M
authors.initials: JM
authors.lastname: Legare
authors.affiliation: Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin, Madison, Wisconsin.
authors.forename: Peggy
authors.initials: P
authors.lastname: Modaff
authors.affiliation: Department of Neurosurgery, University of Wisconsin, Madison, Wisconsin.
authors.forename: Bermans J
authors.initials: BJ
authors.lastname: Iskandar
authors.affiliation: Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin, Madison, Wisconsin.
authors.forename: Richard M
authors.initials: RM
authors.lastname: Pauli
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005097:Exostoses, Multiple Hereditary / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics; D010641:Phenotype; D012189:Retrospective Studies; D013595:Syringomyelia / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D016896:Treatment Outcome; D055815:Young Adult; D000099058:Exostosin 1
chemical_list: D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1
keywords: EXT; HME; exostoses; fibrolipoma; hereditary multiple exostoses; osteochondroma; syrinx; tethered cord