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 Printable version |
Hereditary leukoencephalopathies in adults |
Neurologie.com. Volume 2, Number 3, 60-7, mars 2010, Revue flash
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 Résumé
Article gratuit
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Author(s) : Frédéric Sedel, Pierre Labauge |
Summary : Hereditary leukoencephalopathies in adults represent a wide range of genetic diseases that have in common the exclusive or predominant involvement of the brain white matter. Once the hypothesis of a hereditary leukoencephalopathy is made, the initial diagnostic step for the clinician is to determine if he is in front of a vascular leukoencephalopathy, a metabolic leukoencephalopathy, or another genetic disease (non vascular-non metabolic). The clinical approach is usually disappointing and te diagnostic approach is mainly based on brain MRI. Vascular leukoencephalopathies are characterized by the involvement of the external capsule, the middle part of the pons and the existence of micro-bleeds on gradient echo sequences. In metabolic disease, specific groups of neurons or fibres are involved and a polyneuropathy often exists which can be demyelinating, axonal or both. Other genetic leukoencephalopathies (non-vascular and non-metabolic) usually display distinctive neuro radiological features that should be recognized. |
Keywords : leukodystrophy, leukoencephalopathy, genetic, metabolic, inborn errors of metabolism, magnetic resonance imaging |
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