Article
Incidental magnetic resonance imaging findings leading to an unusual diagnosis: Adult onset Krabbe disease.
European journal of neurology - 1 Jun 2022
Paiva Anderson Rodrigues Brandão, Fonseca Neto Ronald Edington, Afonso Clara Lima, Freua Fernando, Nóbrega Paulo Ribeiro, Kok Fernando
Abstract excerpt
BACKGROUND AND PURPOSE: Krabbe disease (KD), or globoid cell leukodystrophy (Online Mendelian Inheritance in Man #245200), is an autosomal recessive lysosomal storage disease caused by mutations in GALC leading to galactocerebrosidase deficiency. Age at onset can vary from early infancy (3-6 months of age) to adulthood, which has rarely been reported. Little is known about the natural history and early...
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