MRI in a case of Sandhoff's disease

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 enlarge...

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Veröffentlicht in:Neuroradiology 1996-05, Vol.38 (S1), p.S178-S180
Hauptverfasser: HITTMAIR, K, WIMBERGER, D, BERNERT, G, MALLEK, R, SCHINDLER, E. G
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Sprache:eng
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Zusammenfassung: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.
ISSN:0028-3940
1432-1920
DOI:10.1007/BF02278152