Imaging studies in a unique familial dysmyelinating disorder.
Publication/Presentation Date
8-1-1998
Abstract
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 white 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.
Volume
19
Issue
7
First Page
1368
Last Page
1372
ISSN
0195-6108
Published In/Presented At
Gripp, K. W., Zimmerman, R. A., Wang, Z. J., Rorke, L. B., Duhaime, A. C., Schut, L., Molloy, P. T., Tucker, S. H., Zackai, E. H., & Muenke, M. (1998). Imaging studies in a unique familial dysmyelinating disorder. AJNR. American journal of neuroradiology, 19(7), 1368–1372.
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
9726484
Department(s)
Department of Pediatrics
Document Type
Article