Brain stem and spinal cord impairment in Rett syndrome: somatosensory and auditory evoked responses investigations

Brain Dev. 1987;9(5):517-22. doi: 10.1016/s0387-7604(87)80076-1.


Six females with Rett syndrome (RS)--all seriously motor disabled with clinical symptomatology indicating not only brain but also spinal cord impairment--were investigated using auditory and somatosensory evoked responses techniques. In all patients the responses representing the pathways through the upper spinal cord were delayed suggesting an impairment of the central conduction time. The findings mean an involvement of the sub-cortical structures, the brain stem and the cervical spinal cord in the disease process. From the natural clinical course and the present findings, it is concluded that RS is also characterized by spinal cord impairment appearing with increasing age and stage of diseases.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Brain Diseases / genetics
  • Brain Diseases / physiopathology*
  • Brain Stem / physiopathology*
  • Child
  • Evoked Potentials, Auditory
  • Evoked Potentials, Somatosensory
  • Female
  • Humans
  • Intellectual Disability / genetics
  • Intellectual Disability / physiopathology*
  • Neural Conduction
  • Reaction Time
  • Spinal Cord / physiopathology*
  • Syndrome