Gangliosidosis gml juvenil como causa de regresión en el neurodesarrollo: reporte de caso

gangliosidosis gm1 is due a deficiency of lysosomal acid beta-galactosidase which gives sphingolipids (gm1) accumulation. it has systemic compromise, mainly neurologic disease and organomegaly. here, we report a 5-years old child with a juvenile presentation or type ii, which is characterized by regression of neurodevelopment and progression to neurodegeneration. based in his laboratory, neuroimaging and low enzymatic activity of beta-galactosidase a diagnosis of gangliosidoses gm1 was made.