Brain biopsies for neurodegenerative disease in children

J Pediatr. 1978 Jun;92(6):903-5. doi: 10.1016/s0022-3476(78)80357-6.

Abstract

Brain biopsies for neurodegenerative disease performed at The Hospital for Sick Children, Toronto, over a 12-year period (1964 to 1976) were reviewed. Of 64 biopsies, major histologic abnormalities with diagnostic or prognostic significance comprised 39% of the total cases, minor abnormalities represented 13%, and 48% appeared normal. The procedure failed to provide prognostic assistance in 41%. With the advent for newer diagnostic techniques (enzyme assays and muscle, skin, peripheral nerve, rectal, and appendix biopsies) for neurodegenerative disease in childhood, a much lower yield is noted (15 to 20%). Only two progressive degenerative childhood conditions remain in which cerebral tissue is necessary for diagnosis--Alexander disease and Canavan spongy degeneration.

MeSH terms

  • Adolescent
  • Brain / pathology*
  • Brain Diseases / diagnosis*
  • Brain Diseases / pathology
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Male