Acta Neuropathologica

, Volume 94, Issue 2, pp 180–186

Tuberous sclerosis in a 20-week gestation fetus: immunohistochemical study

  • Sung-Hye Park
  • Samuel H. Pepkowitz
  • Christopher Kerfoot
  • Michael J. De Rosa
  • Vadims Poukens
  • R. Wienecke
  • Jeffrey E. DeClue
  • H. V. Vinters
Case report

DOI: 10.1007/s004010050691

Cite this article as:
Park, SH., Pepkowitz, S., Kerfoot, C. et al. Acta Neuropathol (1997) 94: 180. doi:10.1007/s004010050691

Abstract

We report an autopsy case of tuberous sclerosis complex (TSC) in a 20-week gestational age female fetus. The brain showed lesions suggestive of early cortical tubers and subependymal hamartomatous nodules. The large cells within these nodular clusters were variably immunoreactive for glial fibrillary acidic protein (GFAP) and vimentin and negative for synaptophysin and neurofilament. Subependymal radial glia expressed both vimentin and GFAP, but subpial radial glia either did not express these markers (in contrast to an age-matched control) or were absent. Tuberin expression was noted in heterotopic neurons in the white matter and brain cells consistent with Cajal Retzius cells in the neocortical molecular layer, very weakly in superficial cortical neurons, neurons in the basal ganglia, Purkinje cells and external granular cells of cerebellum, cranial nerve nuclei neurons, occasional germinal matrix cells, ependymal cells, choroid plexus epithelium, and pituitary gland neuroendocrine cells; it was not seen within the cells of subependymal nodules. The pattern of tuberin immunoreactivity was similar to that which we have observed in older TSC patients. Proliferating cell labeling indexes were comparable in the germinal matrix of the TSC patient and an age-matched control. Abnormal subpial radial glia may be responsible for some of the neuronal migration abnormalities that appear to result in neocortical tubers.

Key words Brain developmentProliferating cellmarkersTuberinTuberous sclerosis

Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • Sung-Hye Park
    • 1
  • Samuel H. Pepkowitz
    • 3
  • Christopher Kerfoot
    • 1
  • Michael J. De Rosa
    • 1
  • Vadims Poukens
    • 1
  • R. Wienecke
    • 4
  • Jeffrey E. DeClue
    • 4
  • H. V. Vinters
    • 1
  1. 1.Department of Pathology (Neuropathology), UCLA School of Medicine, 18-170 CHS, Los Angeles, CA 90095-1732, USA Fax: 1-310-206-5178; e-mail: hvinters@pathology.medsch.ucla.eduUS
  2. 2.Brain Research Institute and Mental Retardation Research Center, UCLA Medical Center, Los Angeles, CA 90095, USAUS
  3. 3.Department of Pathology, Cedars Sinai Medical center, Los Angeles, California, USAUS
  4. 4.Laboratory of Cellular Oncology, National Cancer Institute, Bethesda, MD 20892, USAUS