White Matter Changes in GM1 Gangliosidosis.
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Date
2015-02
Journal Title
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Volume Title
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Abstract
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.
Description
Keywords
Convulsions, Magnetic resonance imaging, Neuro-metabolic disorders
Citation
Tuteja Moni, Bidchol Abdul Mueed, Girisha Katta Mohan, Phadke Shubha. White Matter Changes in GM1 Gangliosidosis. Indian Pediatrics. 2015 Feb; 52(2): 155-156.