Resumo

TAMBASCO, Ricardo et al. Enfermedad de Krabbe: A propósito de un caso clínico . Arch. Pediatr. Urug. [online]. 2012, vol.83, n.3, pp.189-194. ISSN 1688-1249.

Summary  Krabbe disease is a genetic condition with recessive autosomal inheritance mechanism and very low incidence. Is determined by deficiency in activity of the lysosomal enzyme beta-galactosidase-galactocerebroside (or galactosilcerebrosidasa). Has different forms: children, youth and adulthood. In Uruguay genetic diseases are a major cause of morbidity and mortality. The recognition by the pediatrician in an early clinical elements, is key to early diagnosis. A case of a girl whose clinical manifestations began at 7 months and the diagnosis was confirmed at 10 months by activity assay of galactocerebroside-beta-galactosidase. The aim of this paper is to prioritize the timely recognition of the clinical manifestations, review current Knowledge regarding the diagnosis, including prenatal diagnosis, genetic counseling in view.

Palavras-chave : LEUKODYSTROPHY, GLOBOID CELL; SPHINGOLIPIDOSES; METABOLISM, INBORN ERRORS.

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