Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course

@article{Knaap1996HistopathologyOA,
  title={Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course},
  author={Marjo S. van der Knaap and Peter G. Barth and Gijs F. J. M. Vrensen and J. W. van der Valk},
  journal={Acta Neuropathologica},
  year={1996},
  volume={92},
  pages={206-212}
}
Recently, we described an as yet unidentified white matter disorder in eight patients which probably has an autosomal recessive mode of inheritance. The disease was characterized by megalencephaly and leukoencephalopathy with onset during the 1st year of life and a delayed onset of slowly progressive neurological dysfunction. No basic biochemical defect could be identified. Brain biopsy was performed in one of the patients and the histopathological findings are described in the present report… CONTINUE READING
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