title: MRI and MRS findings in fucosidosis; a rare lysosomal storage disease.
abstract: Fucosidosis is a rare lysosomal storage disorder caused by deficient activity of the enzyme l-fucosidase in all tissues. We presented magnetic resonance imaging [MRI] and MR spectroscopy [MRS] findings of a 4-year-old boy with genetically proven fucosidosis. He had a history and clinical findings of recurrent sinopulmonary infections, hypertonicity on lower extremities, gingival hypertrophy, bilateral ptosis, angiokeratoma corporis diffusum, and dysostosis multiplex. He had no organomegaly and urine glycosaminoglycan analysis were normal. MRI revealed abnormalities within the globus pallidus and periventricular and subcortical white matter. MRS showed a peak at the 3.8-3.9 ppm as a result of accumulating carbohydrate containing macromolecules and another peak at 1.2 which was doublet and inverted on TE 135, suggesting fructose peak. A final diagnosis of fucosidosis was proved by mutational analysis of FUCA1 gene which is responsible for the Fucosidosis phenotype. Two recent reports of MRS of two patients demonstrated that MRS is specific for fucosidosis. In this case, we aim to discuss fucosidosis with MRI and MRS findings accompanied by the literature.
authors.affiliation: Department of Radiology, Medeniyet University Goztepe Education and Research Hospital, Istanbul, Turkey.
authors.forename: Suna Sahin
authors.initials: SS
authors.lastname: Ediz
authors.affiliation: Department of Radiology, Bezmialem Vakif University, İstanbul, Turkey. Electronic address: aysearalasmak@hotmail.com.
authors.forename: Ayse
authors.initials: A
authors.lastname: Aralasmak
authors.affiliation: Department of Radiology, Bezmialem Vakif University, İstanbul, Turkey.
authors.forename: Temel Fatih
authors.initials: TF
authors.lastname: Yilmaz
authors.affiliation: Department of Radiology, Bezmialem Vakif University, İstanbul, Turkey.
authors.forename: Huseyin
authors.initials: H
authors.lastname: Toprak
authors.affiliation: Department of Medical Genetics, Bezmialem Vakif University, Istanbul, Turkey.
authors.forename: Gozde
authors.initials: G
authors.lastname: Yesil
authors.affiliation: Department of Radiology, Bezmialem Vakif University, İstanbul, Turkey.
authors.forename: Alpay
authors.initials: A
authors.lastname: Alkan
mesh_terms: D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D005645:Fucosidosis / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D005644:alpha-L-Fucosidase / Q000235:genetics
chemical_list: C000593239:FUCA1 protein, human; D005644:alpha-L-Fucosidase
keywords: Fucosidosis; Lysosomal storage disease; MR spectroscopy; MRI