MR brain imaging of fucosidosis type I.
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
P
Unit of Diagnostic and Therapeutic Neuroradiology, Azienda Ospedaliera Senese, Italy.
Rufa
A
A
Balestri
P
P
Cerase
A
A
Federico
A
A
D001284:Atrophy; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D005645:Fucosidosis / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009460:Neurologic Examination