Abstract
In this study, we describe the clinical and cytogenetic findings of a Caucasian female who died of bronchopneumonia at age 50 with a 27-year history of illness from a chronic progressive multiple sclerosis (CPMS). The patient developed the classic symptoms at age 23 involving visual difficulty as well as numbness and tingling in the hands and the feet. An initial check-up suggested CPMS although no oligoclonal bands were detected in the cerebrospinal fluid. Her symptoms were refractory to treatment with intravenous corticosteroids, plasmapheresis and cyclophosphamide. Neuropathological findings performed at autopsy were consistent with CPMS features. During her reproductive years, the patient suffered at least 4 miscarriages, which prompted a cytogenetic analysis at age 35. Chromosome G-banding showed an apparently balanced translocation involving chromosomes 3 and 9 in every cell examined revealing a karyotype of 46, XX, t (3q22; 9q34). While the abnormal karyotype is consistent with the patient's history of fetal loss, it is intriguing whether or not CPMS is due to altered gene expression triggered by reciprocal translocation involving chromosomes 3 and 9. It is of interest to note that the only live-born child of this patient also inherited the balanced translocation indicating that chromosome 3 and 9 translocation is likely to be a contributing factor for MS. Further in-depth molecular studies are required to verify whether translocations involving chromosomes 3 and 9 are associated with the onset of CPMS.
