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

• 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

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.