Resumo

ORTIZ, Blair et al. Juvenile GM1 gangliosidosis as a cause of regression in neurodevelopment: a case report. Acta Neurol Colomb. [online]. 2012, vol.28, n.1, pp.37-41. ISSN 0120-8748.

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.

Palavras-chave : Gangliosidosis; GM1; Growth Disorders; Epilepsy; Leukoencephalopathies; Lisosomal Storage Disease.

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