MR brain imaging of fucosidosis type I

Fucosidosis is a rare autosomal recessive lysosomal storage disease with th e main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features, dysostosis multiplex, angiokeratoma corporis diffu sum, visceromegaly, recurrent respiratory infections, and growth retardatio n. Fucosidosis type I rapidly evolves toward a progressive neurologic deter ioration and death. We report MR imaging findings of the brain of three pat ients with fucosidosis type I, including previously unreported findings, to expand the knowledge of the neuroradiologic spectrum of the disease.