A rare case of adult-onset spastic paraparesis in association with Klinefelter syndrome

Report The rare association of Klinefelter syndrome and the clinical presentation of a late onset chronic progressive spastic paresis. Clinical presentation and genetics An infertile 61-year-old man with late adult onset of gait problems, deep muscle pain and bladder problems. He presented for the first time, years after onset with a spastic paraparesis with high arched feet. His mother also had gait problems and high arched feet. Further information of the mother is lacking. After thorough investigation, an additional X chromosome was found, where after the diagnosis of Klinefelter syndrome was made. Other acquired and genetic causes for spastic paraparesis or hereditary motor neuropathy are excluded. Conclusion This rare case, together with two other literature reports, suggests that Klinefelter syndrome can be associated with spastic paraparesis, besides the other various neuropsychiatric symptoms that are more commonly described [1,2].