title: Thalamic hyperdensity--is it a diagnostic marker for Sandhoff disease?
abstract: Sandhoff disease, also known as GM2-gangliosidoses variant 0, is caused by the deficient activity of both hexosaminidase A and hexosaminidase B. We report a 15-month-old boy diagnosed with Sandhoff disease by demonstrating the enzyme deficiency. The interesting finding was bilateral thalamic hyperdensity on the CT scan. The hyperdensity in all previously published cases was homogeneous and symmetric and limited to the thalamus; the cause still remains unknown. We suggest that the finding of dense thalami may be useful as a specific diagnostic criterion for the GM2-gangliosidoses and especially for Sandhoff disease.
authors.affiliation: Department of Pediatrics, Istanbul University Faculty of Medicine, Turkey.
authors.forename: M
authors.initials: M
authors.lastname: Calişkan
authors.forename: M
authors.initials: M
authors.lastname: Ozmen
authors.forename: M
authors.initials: M
authors.lastname: Beck
authors.forename: S
authors.initials: S
authors.lastname: Apak
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D054818:Hexosaminidase A; D054819:Hexosaminidase B; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D012497:Sandhoff Disease / Q000000981:diagnostic imaging / Q000201:enzymology / Q000473:pathology*; D013788:Thalamus / Q000000981:diagnostic imaging / Q000201:enzymology / Q000473:pathology*; D014057:Tomography, X-Ray Computed; D001619:beta-N-Acetylhexosaminidases / Q000172:deficiency
chemical_list: D054818:Hexosaminidase A; D054819:Hexosaminidase B; D001619:beta-N-Acetylhexosaminidases