Resumo

HERNANDEZ GARCIA, Iván et al. Generalized gangliosidosis type 1. Rev Cubana Pediatr [online]. 2014, vol.86, n.1, pp. 103-107. ISSN 0034-7531.

Generalized or GM 1 gangliosidosis is a lysosomal storage disease caused by mutations in the enzyme b-galactosidase gene, mainly characterized by affecting the central nervous system, visceromegalia, osseous dysostosis and facial dimorphism. This is the case of a male nursling born to non-consanguineous parents, 5 months of age, Apgar index of 6/8 due to neonatal hypoxia, with a history of several admissions to hospital because of diarrheal disease and respiratory infections. He was referred to the clinical genetic service since he presented with retarded psychomotor development, macrocrania and hepatomegalia, in addition to hyperchromic skin spots. The physical exam found evidence of possible effects by lysosomal metabolic disease. Among the diseases to be ruled out for the diagnosis were galactosialidosis of similar clinical characteristics and Morquio B disease with different clinical presentation but identical enzymatic deficiency.

Palavras-chave : GM 1 gangliosidosis; lysosomal storage disease; sphyngolipidosis.

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