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MRI in a case of Sandhoff's disease
K Hittmair1, D Wimberger, G Bernert
1Department of Neuroradiology, University of Vienna, Austria.
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.
Insights
Sandhoff's disease, a rare genetic disorder, caused progressive psychomotor retardation in an infant. MRI revealed characteristic brain abnormalities, confirmed by enzyme tests showing low hexosaminidase A and B levels.
Area of Science:
- Neuroscience
- Genetics
- Pediatric Neurology
Background:
- Sandhoff's disease is a rare, fatal neurodegenerative lysosomal storage disorder.
- It results from mutations in the HEXB gene, leading to deficient hexosaminidase A and B enzyme activity.
- Early diagnosis is crucial for potential management, though treatment options remain limited.