White matter changes in GM1 gangliosidosis

Background: GM1 gangliosidosisis a disorder due to GLB1gene mutation. Case characteristics: A 4-yr-old boy with neuroregression and optic atrophy with periventricular hyperintensityon magnetic resonance imaging. Outcome: Beta galactosidaseenzyme activity was low which was confirmed by GLB1sequencing. Message: We highlight the white matter changes in late infantile GM1 gangliosidosis.