Evidence of familial syringomyelia in discordant association with Chiari type I malformation.
We report a sister and two half brothers who presented with magnetic resonance imaging (MRI)-proven syringomyelia and associated Chiari type I malformation in two cases. The individuals have the same mother but two different fathers. The mother shows no clinical signs of syringomyelia. The two fathers died through unknown causes. In a third healthy son of the mother by a relationship with a third father syringomyelia was excluded by MRI. We believe that an autosomal-dominant predisposition is the primary factor in the appearance of syringomyelia in these cases.
Robenek
M
M
Department of Neurology, University of Muenster, Muenster, Germany.
Kloska
S P
SP
Husstedt
I W
IW
D000328:Adult; D001139:Arnold-Chiari Malformation / Q000150:complications / Q000473:pathology / Q000503:physiopathology*; D005192:Family Health; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D009421:Nervous System Malformations / Q000209:etiology / Q000473:pathology; D013116:Spinal Cord / Q000473:pathology; D013595:Syringomyelia / Q000150:complications / Q000473:pathology / Q000503:physiopathology*