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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.
AuthorsK Hittmair, D Wimberger, G Bernert, R Mallek, E G Schindler
JournalNeuroradiology (Neuroradiology) Vol. 38 Suppl 1 Pg. S178-80 (May 1996) ISSN: 0028-3940 [Print] Germany
PMID8811709 (Publication Type: Case Reports, Journal Article)
Topics
  • Basal Ganglia (pathology)
  • Brain (pathology)
  • Cerebral Cortex (pathology)
  • Fatal Outcome
  • Female
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Sandhoff Disease (diagnosis)
  • Thalamus (pathology)

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