Keywords
GM1
neurological regression
lisosomal storage disease
How to Cite
Abstract
Gangliosidoses GM1 is a lysosomal storage disease where accumulates ganglioside-GM1 and other compounds galacto-conjugates. The disease is secondary to beta-galactosidase deficiency; it has multiple organ compromise, with progressive neurologic manifestations and visceromegalies. This work describes 5-year-old girl, with a picture of overall regression of neurodevelopment; diagnosed by clinical findings, neuroimaging and laboratory, as GM1 Gangliosidosis type 2 or juvenile.
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