RT Journal Article
SR Electronic
T1 MR Brain Imaging of Fucosidosis Type I
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 777
OP 780
VO 22
IS 4
A1 Galluzzi, Paolo
A1 Rufa, Alessandra
A1 Balestri, Paolo
A1 Cerase, Alfonso
A1 Federico, Antonio
YR 2001
UL http://www.ajnr.org/content/22/4/777.abstract
AB 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.