%0 Journal Article
%T Gangliosidosis gml juvenil como causa de regresi¨®n en el neurodesarrollo: reporte de caso
%A Ortiz
%A Blair
%A Gonz¨˘lez
%A Claudia
%A Espinosa
%A Eugenia
%A Guevara
%A Johana
%A Echeverri
%A Olga Yanet
%A Barrera
%A Luis
%J Acta Neurol¨®gica Colombiana
%D 2012
%I Scientific Electronic Library Online
%X 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.
%K gangliosidosis
%K gm1
%K growth disorders
%K epilepsy
%K leukoencephalopathies
%K lisosomal storage disease.
%U http://www.scielo.org.co/scielo.php?script=sci_abstract&pid=S0120-87482012000100005&lng=en&nrm=iso&tlng=en