title: Neuroradiologic findings in fucosidosis, a rare lysosomal storage disease.
abstract: Fucosidosis is a rare lysosomal storage disorder with the clinical features of mental retardation, cardiomegaly, dysostosis multiplex, progressive neurologic deterioration, and early death. The neuroradiologic findings in two patients are reported, and include abnormalities within the globus pallidus (both patients) and periventricular white matter (one patient).
authors.affiliation: Department of Radiology, Duke University Medical Center, Durham, NC 27710, USA.
authors.forename: J M
authors.initials: JM
authors.lastname: Provenzale
authors.forename: D P
authors.initials: DP
authors.lastname: Barboriak
authors.forename: K
authors.initials: K
authors.lastname: Sims
mesh_terms: D001706:Biopsy; D001921:Brain / Q000473:pathology*; D001928:Brain Diseases, Metabolic / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D002552:Cerebral Ventricles / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D005645:Fucosidosis / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005917:Globus Pallidus / Q000473:pathology; D006801:Humans; D008247:Lysosomes / Q000648:ultrastructure; D008279:Magnetic Resonance Imaging; D008297:Male; D009460:Neurologic Examination; D012867:Skin / Q000473:pathology; D014057:Tomography, X-Ray Computed