RT Journal Article
SR Electronic
T1 Imaging studies in a unique familial dysmyelinating disorder.
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 1368
OP 1372
VO 19
IS 7
A1 K W Gripp
A1 R A Zimmerman
A1 Z J Wang
A1 L B Rorke
A1 A C Duhaime
A1 L Schut
A1 P T Molloy
A1 S H Tucker
A1 E H Zackai
A1 M Muenke
YR 1998
UL http://www.ajnr.org/content/19/7/1368.abstract
AB 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.