Late-onset globoid cell leukodystrophy: unusual ultrastructural pathology and subtotal beta-galactocerebrosidase deficiency.

@article{Goebel1990LateonsetGC,
  title={Late-onset globoid cell leukodystrophy: unusual ultrastructural pathology and subtotal beta-galactocerebrosidase deficiency.},
  author={HansH. Goebel and Klaus Harzer and J. P. Ernst and Ju¨rgen Bohl and Holger Klein},
  journal={Journal of child neurology},
  year={1990},
  volume={5 4},
  pages={
          299-307
        }
}
An 11-year-old girl was found to have severely reduced beta-galactocerebrosidase activity as evidence of late-onset globoid cell leukodystrophy, while her mother had almost normal enzyme activity in circulating white blood cells. Clinically, the patient showed a remitting course marked by seizures, ataxia, white-matter disease on computed tomographic scan, and reduced conduction velocities of peripheral nerves. Symptoms improved somewhat around the age of 10 years. Two sural nerve biopsies… CONTINUE READING
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