PT - JOURNAL ARTICLE AU - Brismar, J AU - Brismar, G AU - Gascon, G AU - Ozand, P TI - Canavan disease: CT and MR imaging of the brain. DP - 1990 Jul 01 TA - American Journal of Neuroradiology PG - 805--810 VI - 11 IP - 4 4099 - http://www.ajnr.org/content/11/4/805.short 4100 - http://www.ajnr.org/content/11/4/805.full SO - Am. J. Neuroradiol.1990 Jul 01; 11 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.