Ontology highlight
ABSTRACT:
SUBMITTER: Zubarioglu T
PROVIDER: S-EPMC4683895 | biostudies-literature | 2015 Oct-Dec
REPOSITORIES: biostudies-literature
Zubarioglu Tanyel T Kiykim Ertugrul E Zeybek Cigdem Aktuglu CA Cansever Mehmet Serif MS Benbir Gulcin G Aydin Ahmet A Yalcinkaya Cengiz C
Annals of Indian Academy of Neurology 20151001 4
<h4>Unlabelled</h4>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 des ...[more]