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American Journal of Neuroradiology, Vol 19, Issue 7 1368-1372, Copyright © 1998 by American Society of Neuroradiology

ARTICLES

Imaging studies in a unique familial dysmyelinating disorder

KW Gripp, RA Zimmerman, ZJ Wang, LB Rorke, AC Duhaime, L Schut, PT Molloy, SH Tucker, EH Zackai and M Muenke
Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, PA 19104, USA.

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.




Copyright © 2009 by the American Society of Neuroradiology. Print ISSN: 0195-6108 Online ISSN: 1936-959X