We report the imaging findings in five patients with a unique dysmyelinating disorder. MR studies of these infants showed obstructive hydrocephalus caused by mass effect produced by an enlarged cerebellum. The wbite matter of an enlarged cerebrum and cerebellum showed delayed myelination. Proton spectroscopy showed normal N-acetylaspartate (NAA) levels. While the dysmyelinating disorder was clearly differentiated from Canavan disease by an absence of elevated NAA and differing histopathologic findings and autosomal-dominant inheritance pattern, there were similarities to this disease in the presentation and, to some extent, in the initial imaging findings.
|Original language||English (US)|
|Number of pages||5|
|Journal||American Journal of Neuroradiology|
|State||Published - Dec 1 1998|
ASJC Scopus subject areas
- Radiology Nuclear Medicine and imaging
- Clinical Neurology