|
Abstract
|
|
|
|
Background: GM2 gangliosidosis is a neuro-metabolic disorder due to deficiency of ß hexosaminidase activity in lysosomes. Case Report: One and half year old male child presented with regression of milestones and seizures since age of 8 months. Clinical examination showed hypotonia, exaggerated deep tendon reflexes and cherry red spot. MRI brain showed predominant white matter degenerative changes along with grey matter involvement. Enzyme assay for GM2 gangliosidosis showed decreased ß hexosaminidase activity. Conclusion: We highlight the white matter changes in late infantile GM2 gangliosidosis. |
|
|
|
|
|
Keywords :
|
GM2 Gangliosidosis, Grey Matter, Lysosomes, Muscle Hypotonia, Seizures.
|
|