title: A case of chronic infantile type of fucosidosis: clinical and magnetic resonance image findings.
abstract: Fucosidosis is a rare autosomal recessive disorder resulting from a deficiency of alpha-L-fucosidase. In this report, we describe clinical and magnetic resonance image (MRI) findings of a chronic infantile type patient heterozygous for a nonsense mutation and a large deletion. The disease onset occurred at 2-3 years of age. She was bound to a wheelchair at 6 years of age, and developed dystonia at the age of 13 years. Brain MRI at 13 years of age showed marked cerebral and cerebellar atrophy, high intensities in the white matter of the frontal and occipital lobes, and low intensities of the bilateral thalamus, striatum, substantia nigra, red nucleus and mamillary bodies on T2-weighted images. The low intensities of basal ganglia on T2-weighted images seems characteristic of lesions in fucosidosis.
authors.affiliation: Department of Developmental Medicine (Pediatrics), Osaka University, Graduate School of Medical Science, Suita-city, Japan. koji@ped.med.osaka-u.ac.jp
authors.forename: K
authors.initials: K
authors.lastname: Inui
authors.forename: M
authors.initials: M
authors.lastname: Akagi
authors.forename: T
authors.initials: T
authors.lastname: Nishigaki
authors.forename: T
authors.initials: T
authors.lastname: Muramatsu
authors.forename: H
authors.initials: H
authors.lastname: Tsukamoto
authors.forename: S
authors.initials: S
authors.lastname: Okada
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D002908:Chronic Disease; D005260:Female; D005645:Fucosidosis / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D008279:Magnetic Resonance Imaging