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Related Experiment Videos

Thalamic hyperdensity--is it a diagnostic marker for Sandhoff disease?

M Calişkan1, M Ozmen, M Beck

  • 1Department of Pediatrics, Istanbul University Faculty of Medicine, Turkey.

Brain & Development
|September 1, 1993
PubMed
Summary
This summary is machine-generated.

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Sandhoff disease, a rare genetic disorder, involves enzyme deficiencies. Bilateral thalamic hyperdensity on CT scans may serve as a key diagnostic marker for this condition.

Area of Science:

  • Neurology
  • Medical Genetics
  • Radiology

Background:

  • Sandhoff disease is a rare, fatal neurodegenerative lysosomal storage disorder.
  • It results from deficient activity of both beta-hexosaminidase A and B enzymes.
  • This deficiency leads to the accumulation of GM2 gangliosides in the central nervous system.