Familial syringomyelia: case report and review of the literature.
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.
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
D006680:HLA Antigens