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

Abstract

ReportThe rare association of Klinefelter syndrome and the clinical presentation of a late onset chronic progressive spastic paresis.Clinical Presentation and GeneticsAn infertile, 61-year-old man, presented 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 parents had already died, but the patient described high arched feet with his mother. There is no further certain information about the parents. After thorough investigation, an additional X chromosome was found, whereafter the diagnosis of Klinefelter syndrome could be made. Other acquired and genetic causes for spastic paraparesis or hereditary motor neuropathy are excluded.ConclusionThis rare case, together with three other literature reports by Sasaki (Intern Med 58(3):437–440, 2019), Sajra (Med Arh 61(1):52–53, 2007) and Matsubara et al., (J Neurol Neurosurg Psychiatry 57(5):640–642, 1994). suggests that Klinefelter syndrome can be associated with spastic paraparesis, besides the other various neuropsychiatric symptoms that are more commonly described.