title: MRI in a case of Sandhoff's disease.
abstract: An 18-month-old girl was examined by MRI for progressive psychomotor retardation. T2-weighted images demonstrated abnormal high signal in the putamina and low signal in the thalamus (due probably to calcification). Although the cerebral cortex was markedly atrophic, there were signs of brain enlargement because of swelling of the extensively diseased white matter. The diagnosis of Sandhoff's disease was established by low serum levels of hexosaminidase A and B.
authors.affiliation: Department of Neuroradiology, University of Vienna, Austria.
authors.forename: K
authors.initials: K
authors.lastname: Hittmair
authors.forename: D
authors.initials: D
authors.lastname: Wimberger
authors.forename: G
authors.initials: G
authors.lastname: Bernert
authors.forename: R
authors.initials: R
authors.lastname: Mallek
authors.forename: E G
authors.initials: EG
authors.lastname: Schindler
mesh_terms: D001479:Basal Ganglia / Q000473:pathology; D001921:Brain / Q000473:pathology*; D002540:Cerebral Cortex / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D012497:Sandhoff Disease / Q000175:diagnosis*; D013788:Thalamus / Q000473:pathology