IMAGING STUDIES IN A UNIQUE FAMILIAL DYSMYELINATING DISORDER

We report the imaging findings in five patients with a unique dysmyeli nating disorder. MIP studies of these infants showed abstractive hydro pcephalus caused by mass effect produced by an enlarged cerebellum. Th e white matter of an enlarged cerebrum and cerebellum showed delayed m yelination, Proton spectroscopy showed normal N-acetylaspartate (NAA) levels. While the dysmyelinating disorder was clearly differentiated f rom Canavan disease by an absence of elevated NAA and differing histop athologic findings and autosomal-dominant inheritance pattern, there w ere similarities to this disease in the presentation and, tee some ext ent, in the initial imaging findings.