White matter changes in GM1 gangliosidosis.
نویسندگان
چکیده
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.
منابع مشابه
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عنوان ژورنال:
- Indian pediatrics
دوره 52 2 شماره
صفحات -
تاریخ انتشار 2015