Evidence of familial syringomyelia in discordant association with Chiari type I malformation

Abstract

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 pre-disposition is the primary factor in the appearance of syringomyelia in these cases. © 2006 EFNS.