A Zakeri1, F E Glasauer, J G Egnatchik. 1. Department of Neurosurgery, Millard Fillmore Hospital, Erie County Medical Center, Buffalo, New York, USA.
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. CONCLUSION: We recommend that close relatives of patients affected with familial syringomyelia undergo routine neurologic and radiologic surveys.
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.
Authors: Christian P Schaaf; Robin P Goin-Kochel; Kerri P Nowell; Jill V Hunter; Kirk A Aleck; Sarah Cox; Ankita Patel; Carlos A Bacino; Marwan Shinawi Journal: Eur J Hum Genet Date: 2010-10-20 Impact factor: 4.246
Authors: Christina A Markunas; Karen Soldano; Kaitlyn Dunlap; Heidi Cope; Edgar Asiimwe; Jeffrey Stajich; David Enterline; Gerald Grant; Herbert Fuchs; Simon G Gregory; Allison E Ashley-Koch Journal: PLoS One Date: 2013-04-19 Impact factor: 3.240