Abstract:
Sandhoff’s disease is a rare, genetic lysosomal storage disease
leading to delayed myelination or demyelination. Although neuroimaging
findings in this disease have been reported previously,
magnetic resonance spectroscopy findings have not been reported.
In this report, we present magnetic resonance imaging and magnetic
resonance spectroscopy features of two cases with Sandhoff’s
disease. Magnetic resonance spectroscopy revealed findings indicating
widespread demyelination in both cases and neuroaxonal
loss and anaerobic metabolism in the second case. Magnetic resonance
spectroscopy could provide useful information in the
explanation of the clinical picture of cases with Sandhoff’s disease.
