title: [Krabbe disease (globoid cell leukodystrophy): a case report]
abstract: OBJECTIVE: The authors report a case of Krabbe disease.METHODS: The authors report a case of patient with motor deterioration and irritability in first months of life being suspected and confirmed the hypothesis of Globoid Cell Leukodystrophy through the subsidiary exams and enzymatic dosage.RESULTS: The case presented signs and symptoms compatible with the early onset type of Krabbe Disease, being confirmed by dosage of the enzyme galactosylceramide beta galactosidase in fibroblasts culture.CONCLUSIONS: The Krabbe Disease is a rare autosomal recessive disorder and the suspicion many times dońt arrive to be lifted up, not arriving to the specialist for diagnostic. In spite of there not being specific treatment, the genetic orientation is necessary.
authors.affiliation: Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil.
authors.forename: L C
authors.initials: LC
authors.lastname: Vilanova
authors.forename: L M
authors.initials: LM
authors.lastname: Santos