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. CONCLUSION: We recommend that close relatives of patients affected with familial syringomyelia undergo routine neurologic and radiologic surveys.