Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults |
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| Authors: | Alfried Kohlschü tter,Annette Bley,Knut Brockmann,Jutta Gä rtner,Ingeborg Krä geloh-Mann,Arndt Rolfs,Ludger Schö ls |
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| Affiliation: | 1. Children’s Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany;2. Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, Germany;3. Department of Pediatric Neurology, University of Tübingen, Germany;4. Albrecht-Kossel-Institute for Neuroregeneration, Center for Mental Health, University of Rostock, Germany;5. Hertie-Institute for Clinical Brain Research and Department of Neurology, University of Tübingen, Germany |
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| Abstract: | ![]()
Abnormalities of CNS white matter are frequently detected in patients with neurological disorders when MRI studies are performed. Among the many causes of such abnormalities, a large group of rare genetic diseases poses considerable diagnostic problems. Here we present a compilation of genetic leukoencephalopathies to consider when one is confronted with white matter disease of possibly genetic origin. The table contains essentials such as age at onset of symptoms, clinical and MRI characteristics, basic defect, and useful diagnostic studies. The table serves as a diagnostic check list. |
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| Keywords: | Genetic brain disease Inborn error of metabolism Diagnosis Neuroradiology |
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