title: Familial syringomyelia: case report and review of the literature.
abstract: We report a case of familial syringomyelia consisting of two sisters, one of whom had syringomyelia and Chiari type I malformation and the other, who had died 5 years earlier, had syringomyelia and Klippel-Feil syndrome. Although syringomyelia is uncommon and familial cases rare, they continue to be reported from time to time. Review of the literature certainly suggests that genetic factors play a part in the etiopathogenesis of syringomyelia related to abnormalities of the hindbrain structures, although the number of cases is too small for the exact nature of transmission be established.
authors.affiliation: Divisione di Neurologia, Ospedale di Desio, MI.
authors.forename: A
authors.initials: A
authors.lastname: Colombo
authors.forename: M G
authors.initials: MG
authors.lastname: Cislaghi
mesh_terms: D000328:Adult; D001139:Arnold-Chiari Malformation / Q000150:complications; D004576:Electromyography; D005260:Female; D006801:Humans; D007714:Klippel-Feil Syndrome / Q000150:complications; D008279:Magnetic Resonance Imaging; D009192:Myelography; D013595:Syringomyelia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*