Chiari Type I malformation and syringomyelia in unrelated patients with blepharophimosis - Report of two cases

Syringomyelia is a rare, mainly sporadic disease of the spinal cord, which is associated with 80% of cases in which a Chiari Type I malformation is al so present. A mendelian transmission of syringomyelia (autosomal dominant o r recessive) has been proposed in approximately 2% of reported cases. The a ssociation of syringomyelia with hereditary diseases (Noonan's syndrome, ph acomatoses) has been mentioned frequently in the literature. The authors report the presence of a Chiari Type I malformation accompanied by syringomyelia in two unrelated patients affected by a familial Type Il blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). The first pati ent was a 35-year-old woman who presented with a right C-8 root paresia. Th e second case involved a 20-year-old man who complained of cervical radicul ar pain. Both belong to families in which BPES was segregated in an autosom al dominant modality, but other family members had no known neurological sy mptoms. To the authors' knowledge, such a combination has never been descri bed. Perhaps the possible involvement of a genetic component in some cases of Chiari Type I-associated syringomyelia will someday be debated.