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The MR spectrum of peroxisomal disorders

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Summary

In the last decade an increasing number of peroxisomal disorders has been recognized. Almost all peroxisomal disorders affect the central nervous system. Many of them lead to demyelination, some of them lead to migrational disturbances. The MR pattern of X-linked adrenoleukodystrophy is well known, but the pattern of the other peroxisomal disorders is less well known. We evaluated the gray and white matter abnormalities of 20 patients on 32 occasions. We compared the results with histological data and in this way came to the description of a number of characterisitc MR patterns occurring in peroxisomal disorders: (1) Neuronal migrational disturbances in combination with hypomyelination, dysmyelination or demyelination. (2) Symmetrical demyelination of posterior limb of the internal capsule, cerebellar white matter and brain stem tracts with a variable affection of cerebral hemispheres. (3) Symmetrical demyelination, exhibiting two zones, starting in the occipital area and spreading outwards and forwards; affection of brain stem tracts. (4) Less characteristic patterns of demyelination. The patterns are illustrated and differentiation from other disorders is discussed.

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Authors and Affiliations

  1. Department of Child Neurology, University Hospital for children “Wilhelmina Kinderziekenhuis”, Utrecht, The Netherlands

    M. S. van der Knaap

  2. Department of Diagnostic Radiology and Neuroradiology, Free University Hospital, Amsterdam, The Netherlands

    J. Valk

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  1. M. S. van der Knaap
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van der Knaap, M.S., Valk, J. The MR spectrum of peroxisomal disorders. Neuroradiology 33, 30–37 (1991). https://doi.org/10.1007/BF00593330

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