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MRI and MRS findings in fucosidosis; a rare lysosomal storage disease

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dc.contributor.authorEDIZ, Suna Sahin
dc.contributor.authorAralasmak, AYŞE
dc.contributor.authorYILMAZ, TEMEL FATİH
dc.contributor.authorToprak, HÜSEYİN
dc.contributor.authorYesil, GÖZDE
dc.contributor.authorAlkan, ALPAY
dc.contributor.institutionauthorARALAŞMAK, AYŞE
dc.contributor.institutionauthorYILMAZ, TEMEL FATİH
dc.contributor.institutionauthorTOPRAK, HÜSEYİN
dc.contributor.institutionauthorYEŞİL, GÖZDE
dc.contributor.institutionauthorALKAN, ALPAY
dc.date.accessioned2019-10-05T21:40:05Z
dc.date.available2019-10-05T21:40:05Z
dc.date.issued2016-04-01
dc.description.abstractFucosidosis 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. (c) 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights
dc.identifier
dc.identifier.citationEDIZ S. S. , Aralasmak A., YILMAZ T. F. , Toprak H., Yesil G., Alkan A., -MRI and MRS findings in fucosidosis; a rare lysosomal storage disease-, BRAIN & DEVELOPMENT, cilt.38, ss.435-438, 2016
dc.identifier.doi10.1016/j.braindev.2015.09.013
dc.identifier.pubmed26515723
dc.identifier.scopus84959187391
dc.identifier.urihttps://hdl.handle.net/20.500.12645/7903
dc.identifier.wosWOS:000372685000013
dc.language.isoen
dc.titleMRI and MRS findings in fucosidosis; a rare lysosomal storage disease
dc.typeArticle
dspace.entity.typePublication
local.article.journalnameÇocuk Sağlığı ve Hastalıkları Dergisi 2000; 43: 173-176.
local.avesis.idc4844e42-8cad-40e9-918a-b0973bfc7385
local.avesis.response7779
local.publication.isinternational1
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