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abstractpubmed· Abstract 2015· item PMID:25691190
White matter changes in GM1 gangliosidosis. BACKGROUND: GM1 gangliosidosis is a disorder due to GLB1 gene mutation. CASE CHARACTERISTICS: A 4-yr-old boy with neuroregression and optic atrophy with periventricular hyperintensity on magnetic resonance imaging. OUTCOME: Beta galactosidase enzyme activity was low which was confirmed by GLB1 sequencing. MESSAGE: We highlight the white matter changes in late infantile GM1 gangliosidosis.