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dc.contributor.authorYalcinkaya, Cengiz
dc.contributor.authorCansever, Mehmet Serif
dc.contributor.authorAydin, Ahmet
dc.contributor.authorKiykim, Ertugrul
dc.contributor.authorZubarioglu, Tanyel
dc.contributor.authorZeybek, Cigdem Aktuglu
dc.contributor.authorBenbir, Gulcin
dc.date.accessioned2021-03-02T23:04:45Z
dc.date.available2021-03-02T23:04:45Z
dc.date.issued2015
dc.identifier.citationZubarioglu T., Kiykim E., Zeybek C. A. , Cansever M. S. , Benbir G., Aydin A., Yalcinkaya C., "Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation", ANNALS OF INDIAN ACADEMY OF NEUROLOGY, cilt.18, sa.4, ss.471-474, 2015
dc.identifier.issn0972-2327
dc.identifier.otherav_104e13ba-5aaf-465e-959f-1cf0d3b5f8d0
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/16477
dc.identifier.urihttps://doi.org/10.4103/0972-2327.160090
dc.description.abstractFucosidosis 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 skills is presented. Coarse facial feature and abnormal globuspallidus signaling in brain magnetic resonance imaging (MRI) led the patient to be investigated in terms of fucosidosis despite absence of hepatosplenomegaly, dysostosis multiplex, and angiokeratomas. Markedly decreased enzyme activity of alpha-fucosidosis led to the correct diagnosis. Conclusion: Various neurological findings have recently been reported in fucosidosis. However, neuroimaging findings have not been studied in detail except a few studies. It is critically important to discuss the wide neuroradiological spectrum of the disease and to highlight fucosidosis in differential diagnosis of bilateral pallidalhypointensity on T2-weighted images in brain MRI. In addition, description of atypical clinical findings of fucosidosis should avoid clinicians from diagnostic delay.
dc.language.isoeng
dc.subjectNöroloji
dc.subjectDahili Tıp Bilimleri
dc.subjectSağlık Bilimleri
dc.subjectTıp
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectKLİNİK NEUROLOJİ
dc.titleClinical and neuroradiological approach to fucosidosis in a child with atypical presentation
dc.typeMakale
dc.relation.journalANNALS OF INDIAN ACADEMY OF NEUROLOGY
dc.contributor.departmentİstanbul Üniversitesi , ,
dc.identifier.volume18
dc.identifier.issue4
dc.identifier.startpage471
dc.identifier.endpage474
dc.contributor.firstauthorID224857


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