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  • Title: Proton MR spectroscopy in three children with Tay-Sachs disease.
    Author: Aydin K, Bakir B, Tatli B, Terzibasioglu E, Ozmen M.
    Journal: Pediatr Radiol; 2005 Nov; 35(11):1081-5. PubMed ID: 16079982.
    Abstract:
    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.
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