Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults.
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.
Kohlschütter
Alfried
A
Children's Hospital, University Medical Center Hamburg-Eppendorf, Germany. kohlschuetter@uke.uni-hamburg.de
Bley
Annette
A
Brockmann
Knut
K
Gärtner
Jutta
J
Krägeloh-Mann
Ingeborg
I
Rolfs
Arndt
A
Schöls
Ludger
L
D017668:Age of Onset; D001928:Brain Diseases, Metabolic / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D056784:Leukoencephalopathies / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D008279:Magnetic Resonance Imaging