Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation

Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation

Fucosidosis is a rare lysosomal storage disease with clinical presentation of developmental retardation, coarse facial features, hepatosplenomegaly, dysostosis multiplex, and angiokeratomas. Here, a 7-year-old female patient with progressive dystonic movement disorder and loss of acquired motor skil...

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Bibliographic Details
Main Authors: Tanyel Zubarioglu, Ertugrul Kiykim, Cigdem Aktuglu Zeybek, Mehmet Serif Cansever, Gulcin Benbir, Ahmet Aydin, Cengiz Yalcinkaya
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2015-01-01
Series:Annals of Indian Academy of Neurology
Subjects:
Dystonia
fucosidosis
globus pallidus hypointensity
magnetic resonance imaging
Online Access:http://www.annalsofian.org/article.asp?issn=0972-2327;year=2015;volume=18;issue=4;spage=471;epage=474;aulast=Zubarioglu

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http://www.annalsofian.org/article.asp?issn=0972-2327;year=2015;volume=18;issue=4;spage=471;epage=474;aulast=Zubarioglu

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