Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation.

ABSTRACT:

Unlabelled

Fucosidosis is a rare lysosomal storage disease with clinical presentation of developmental retardation, coarse facial features, hepatosplenomegaly, dysostosis multiplex, and angiokeratomas. Here, a 7-year-old female patient with progressive dystonic movement disorder and loss of acquired motor skills is presented. Coarse facial feature and abnormal globuspallidus signaling in brain magnetic resonance imaging (MRI) led the patient to be investigated in terms of fucosidosis despite absence of hepatosplenomegaly, dysostosis multiplex, and angiokeratomas. Markedly decreased enzyme activity of alpha-fucosidosis led to the correct diagnosis.

Conclusion

Various neurological findings have recently been reported in fucosidosis. However, neuroimaging findings have not been

SUBMITTER: Zubarioglu T 

PROVIDER: S-EPMC4683895 | biostudies-literature | 2015 Oct-Dec

REPOSITORIES: biostudies-literature