title: Familial syringomyelia: case report and review of the literature.
abstract: BACKGROUND
  Syringomyelia is an uncommon disease of the spinal cord, occurring sporadically. However, rare familial cases with autosomal dominant or recessive inheritance patterns are reported and their incidence quoted as approximately 2%. Only one previous report originated from the United States.
  
  
  METHODS
  We present a brother and sister with syringomyelia and associated Chiari type I malformation; both patients responded to surgical treatment. We review the world literature and briefly discuss pathogenetic theories of syringomyelia as well as the relevance of the histocompatibility leukocyte antigen profile.
  
  
  RESULTS
  Both genetic and environmental factors appear to be involved in familial syringomyelia.
  
  
  CONCLUSIONS
  We recommend that close relatives of patients affected with familial syringomyelia undergo routine neurologic and radiologic surveys.
mesh_terms: D000328:Adult; D001139:Arnold-Chiari Malformation / Q000150:complications; D005260:Female; D006680:HLA Antigens / Q000097:blood; D006801:Humans; D008297:Male; D012600:Scoliosis / Q000150:complications; D013595:Syringomyelia / Q000150:complications / Q000235:genetics* / Q000276:immunology
chemical_list: D006680:HLA Antigens