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AJNR - American Journal of Neuroradiology

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American Journal of Neuroradiology 22:777-780 (4 2001)
© 2001 American Society of Neuroradiology

ARTICLE

MR Brain Imaging of Fucosidosis Type I

Paolo Galluzzi^a, Alessandra Rufa^a, Paolo Balestri^a, Alfonso Cerase^a and Antonio Federico^,a

^a From the Unit of Diagnostic and Therapeutic Neuroradiology, Azienda Ospedaliera Senese (P. G., A. C.), the InterDepartmental Center of Nuclear Magnetic Resonance (P. G., A.R., A.C., A.F.), the Unit of Neurometabolic Diseases, University of Siena (A.R., A.F.), and the Department of Clinical Pediatrics, University of Siena (P.B.), Policlinico "Le Scotte", Siena, Italy.

Summary: Fucosidosis is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly, recurrent respiratory infections, and growth retardation. Fucosidosis type I rapidly evolves toward a progressive neurologic deterioration and death. We report MR imaging findings of the brain of three patients with fucosidosis type I, including previously unreported findings, to expand the knowledge of the neuroradiologic spectrum of the disease.