title: Canavan disease: CT and MR imaging of the brain.
abstract: 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.
authors.affiliation: Department of Radiology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
authors.forename: J
authors.initials: J
authors.lastname: Brismar
authors.forename: G
authors.initials: G
authors.lastname: Brismar
authors.forename: G
authors.initials: G
authors.lastname: Gascon
authors.forename: P
authors.initials: P
authors.lastname: Ozand
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology*; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000000981:diagnostic imaging / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D013577:Syndrome; D014057:Tomography, X-Ray Computed