Alexanders disease : magnetic resonance imaging and proton magnetic resonance spectroscopy : report of three cases

Background: Alexander's disease is a rare genetic leukodystrophy connected with mutation of the GFAP gene. Infantile, juvenile, and adult subtypes are described. Case reports: We analyzed MR images in three and HMRS in two cases of Alexander's disease. The examinations were performed with a 1.5T scanner in the SE, FSE, and FLAIR sequences in T1,T2 W I before and after gadolinium injection. Single voxel HMRS was performed. M RI showed extensive abnormal signal in the white matter of the frontal lobes, in external capsules, basal ganglia, posterior limbs of the internal capsules, and the hilus of dentate nuclei. Focal contrast enhancement was seen near the frontal horns. HMRS revealed increased Cho/Cr and mI/Cr ratios and decreased NAA/Cr ratio. The presence of lactate was also observed. Conclusions: MR is useful in imaging typical forms of Alexander's disease. Genetic investigation is necessary for definitive diagnosis. HMRS demonstrates metabolic abnormalities of white matter.