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.

Galluzzi, P., Rufa, A., Balestri, P., Cerase, A., & Federico, A. (2001). MR brain imaging of fucosidosis type I. AJNR, AMERICAN JOURNAL OF NEURORADIOLOGY, 22(4), 777-780.

MR brain imaging of fucosidosis type I

RUFA, ALESSANDRA;BALESTRI, PAOLO;FEDERICO, ANTONIO
2001

Abstract

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.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11365/18522
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