Proton MR spectroscopy in three children with Tay-Sachs disease.

BACKGROUND

Tay-Sachs disease is an inherited metabolic disease caused by the accumulation of GM(2) gangliosides in the central nervous system. Deficiency of hexosaminidase A leads to the accumulation of gangliosides in neurons, axons and glial cells.

OBJECTIVE

To present the cranial MRI and proton MR spectroscopy findings of children of Tay-Sachs disease.

MATERIALS AND

METHODS

Three children aged 10, 20 and 21 months were examined.

RESULTS

On T2-weighted MR images there were hyperintense signal changes in the basal ganglia and cerebral white matter. MR spectroscopy demonstrated an increase in myoinositol/creatine and choline/creatine ratios with a decrease in the N-acetyl aspartate/creatine ratio.

CONCLUSIONS

The spectroscopy findings support demyelination, gliosis and neuronal loss in the neuropathological process of Tay-Sachs disease.