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Juvenile metachromatic leucodystrophy

Case report with clinical, histopathological, ultrastructural and biochemical observations

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Summary

Clinical history, histopathological, ultrastructural and biochemical observations are presented in a juvenile MLD with onset at 8 years and death at 20 years. The findings are compared with related ones in different age groups, and current views on sulfatide metabolism and enzymatic pathogenesis in MLD are briefly entertained. It is postulated that the relatively well established morphological and chemical stability of the nervous tissue at the time of appearance of the metabolic derangement was an important factor in the pathomechanism of the disease process in this particular variant.

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Authors and Affiliations

  1. Department of Neuropathology and Research Laboratory, Illinois State Psychiatric Institute and Illinois State Pediatric Institute, 1150 North Lakeshore Drive, 60611, Chicago, Illinois, U.S.A.

    Catherine Haberland, Eric Brunngraber, Lloyd Witting & Aruna Daniels

  2. Mendel Research Laboratory, Elgin State Hospital, Elgin, Illinois, U.S.A.

    Catherine Haberland, Eric Brunngraber, Lloyd Witting & Aruna Daniels

  3. Department of Pathology, University of Chicago, Chicago, Illinois

    Aruna Daniels

Authors
  1. Catherine Haberland
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  2. Eric Brunngraber
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  3. Lloyd Witting
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  4. Aruna Daniels
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Haberland, C., Brunngraber, E., Witting, L. et al. Juvenile metachromatic leucodystrophy. Acta Neuropathol 26, 93–106 (1973). https://doi.org/10.1007/BF00697745

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