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.
All Science Journal Classification (ASJC) codes
- Pediatrics, Perinatology, and Child Health