Familial syringomyelia: case report and review of the literature.

We report a case of familial syringomyelia consisting of two sisters, one of whom had syringomyelia and Chiari type I malformation and the other, who had died 5 years earlier, had syringomyelia and Klippel-Feil syndrome. Although syringomyelia is uncommon and familial cases rare, they continue to be reported from time to time. Review of the literature certainly suggests that genetic factors play a part in the etiopathogenesis of syringomyelia related to abnormalities of the hindbrain structures, although the number of cases is too small for the exact nature of transmission be established.

The natural history and results of surgery in 50 cases of syringomyelia.

In recent years, new neuroimaging techniques have revived interest in syringomyelia with respect to indications and results of surgery. Fifty patients, 36 of whom underwent surgery, have been reviewed. All patients but 3 underwent a new clinical assessment and 33 of them were also neurophysiologically investigated. In approximately one-third of the non-surgically treated patients the clinical course was benign. In 26 of the surgically treated patients an improvement was noted at the short-term assessment both for spasticity and pain, but in most of them it was not maintained in the medium term. Therefore, an accurate selection of the patients to be treated surgically is strongly recommended, particularly when the natural history of the disease is considered. Decompression of the posterior fossa seems to give the best results, yet no curative surgical treatment has been devised to date.