Krabbe's disease is rare, autosomal recessive, promotes the deficiency of the lysosomal galactosylceramide beta-galactosity enzyme, which produces a toxic metabolite for oligodendrocytes, leading to demyelination of the central nervous system and peripheral nervous system. It may manifest in the first months of life (90% of cases), in the juvenile stage or in adulthood. Marked by irritability, delayed psychomotor development, unexplained fever, progressive decrease in strength, ataxia, hemiparesis, cortical blindness and progressive dementia. There is no specific treatment, however the transplantation of bone marrow or non cord cells allows to improve the evolution. Measures such as physical therapy, cognitive and language stimulation may be used to improve the life quality. Currently, the diagnosis is a family guide to the prognosis and the possibility of familial recurrence. This article is a case of late presentation of Krabbe disease, beginning at 2 years of age, confirmed by the measurement of galactosylceramide beta galactosity in fibroblast culture.
