Alexander's disease in a neurologically normal child: a case report.
We report the clinical and MRI findings of symmetric hyperintensity involving the deep and subcortical white matter of the frontal lobes in a neurologically normal child with macrocephaly. In this patient, a serum test for mutations in glial fibrillary acidic protein, used to diagnose Alexander's disease (AD), was positive. This case indicates an extraordinarily mild or early form of juvenile-onset AD.
Guthrie
Scott O
SO
Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga Unit, Erlanger Health System, 975 East Third Street, Chattanooga, TN 37304, USA.
Burton
Edward M
EM
Knowles
Paul
P
Marshall
Robert
R
D038261:Alexander Disease / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D005819:Genetic Markers / Q000235:genetics; D005904:Glial Fibrillary Acidic Protein / Q000097:blood / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D019636:Neurodegenerative Diseases / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D017354:Point Mutation / Q000235:genetics
D005819:Genetic Markers; D005904:Glial Fibrillary Acidic Protein