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...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2015-01-01
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| Series: | Annals of Indian Academy of Neurology |
| Subjects: | |
| Online Access: | http://www.annalsofian.org/article.asp?issn=0972-2327;year=2015;volume=18;issue=4;spage=471;epage=474;aulast=Zubarioglu |
| _version_ | 1828162991756935168 |
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| author | Tanyel Zubarioglu Ertugrul Kiykim Cigdem Aktuglu Zeybek Mehmet Serif Cansever Gulcin Benbir Ahmet Aydin Cengiz Yalcinkaya |
| author_facet | Tanyel Zubarioglu Ertugrul Kiykim Cigdem Aktuglu Zeybek Mehmet Serif Cansever Gulcin Benbir Ahmet Aydin Cengiz Yalcinkaya |
| author_sort | Tanyel Zubarioglu |
| collection | DOAJ |
| description | 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 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. |
| first_indexed | 2024-04-12T01:03:35Z |
| format | Article |
| id | doaj.art-857aed190c444fd2b85eaea1534e09d7 |
| institution | Directory Open Access Journal |
| issn | 0972-2327 1998-3549 |
| language | English |
| last_indexed | 2024-04-12T01:03:35Z |
| publishDate | 2015-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Annals of Indian Academy of Neurology |
| spelling | doaj.art-857aed190c444fd2b85eaea1534e09d72022-12-22T03:54:22ZengWolters Kluwer Medknow PublicationsAnnals of Indian Academy of Neurology0972-23271998-35492015-01-0118447147410.4103/0972-2327.160090Clinical and neuroradiological approach to fucosidosis in a child with atypical presentationTanyel ZubariogluErtugrul KiykimCigdem Aktuglu ZeybekMehmet Serif CanseverGulcin BenbirAhmet AydinCengiz YalcinkayaFucosidosis 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.http://www.annalsofian.org/article.asp?issn=0972-2327;year=2015;volume=18;issue=4;spage=471;epage=474;aulast=ZubariogluDystoniafucosidosisglobus pallidus hypointensitymagnetic resonance imaging |
| spellingShingle | Tanyel Zubarioglu Ertugrul Kiykim Cigdem Aktuglu Zeybek Mehmet Serif Cansever Gulcin Benbir Ahmet Aydin Cengiz Yalcinkaya Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation Annals of Indian Academy of Neurology Dystonia fucosidosis globus pallidus hypointensity magnetic resonance imaging |
| title | Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation |
| title_full | Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation |
| title_fullStr | Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation |
| title_full_unstemmed | Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation |
| title_short | Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation |
| title_sort | clinical and neuroradiological approach to fucosidosis in a child with atypical presentation |
| topic | Dystonia fucosidosis globus pallidus hypointensity magnetic resonance imaging |
| url | 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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