Infantile Alexander Disease: Case Report and Review of Literature

Infantile Alexander Diasease: A Genotype-Phenotype Correlation

“…Also observed are a periventricular rim of decreased signal intensity on T2-weighted images and elevated signal intensity on T1-weighted images, abnormalities of the basal ganglia and thalami, brain stem defects and contrast enhancement of one or more of those previously mentioned [5,14,15]. In AD, the frontal white matter disruptions in the first 2 years of life are very distinctive and as in our case, permit distinguishing between different types of leukodystrophy [5,9].…”