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RT Journal Article
SR Electronic
T1 Canavan disease: CT and MR imaging of the brain.
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 805
OP 810
VO 11
IS 4
A1 Brismar, J
A1 Brismar, G
A1 Gascon, G
A1 Ozand, P
YR 1990
UL http://www.ajnr.org/content/11/4/805.abstract
AB Canavan disease (spongy degeneration of the brain) is a rare lethal neurodegenerative disorder of infancy; fewer than 100 cases have been reported. We describe a series of nine patients with enzymatic defects and clinical features consistent with Canavan disease; in two patients the disease was proved by biopsy. All patients were examined with CT and seven with MR. In every instance, both CT and MR showed white-matter disease, sometimes sparing the external and internal capsules, the corpus callosum, and the deep cerebellar white matter. Atrophic changes were found in six patients; the changes were marked in one and slight in five. There was no obvious correlation between the severity of the white-matter disease and the clinical presentation--one patient with severe white-matter disease was clinically normal. The CT and MR findings in Canavan disease are nonspecific and somewhat nonuniform: its preautopsy diagnosis relies primarily on biochemical findings.