title: Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pediatrics, Division of Nutrition and Metabolism, Istanbul University Cerrahpasa Medical Faculty Kocamustafapasa Fatih, Istanbul, Turkey.
authors.forename: Tanyel
authors.initials: T
authors.lastname: Zubarioglu
authors.affiliation: Department of Pediatrics, Division of Nutrition and Metabolism, Istanbul University Cerrahpasa Medical Faculty Kocamustafapasa Fatih, Istanbul, Turkey.
authors.forename: Ertugrul
authors.initials: E
authors.lastname: Kiykim
authors.affiliation: Department of Pediatrics, Division of Nutrition and Metabolism, Istanbul University Cerrahpasa Medical Faculty Kocamustafapasa Fatih, Istanbul, Turkey.
authors.forename: Cigdem Aktuglu
authors.initials: CA
authors.lastname: Zeybek
authors.affiliation: Department of Pediatrics, Division of Nutrition and Metabolism, Istanbul University Cerrahpasa Medical Faculty Kocamustafapasa Fatih, Istanbul, Turkey.
authors.forename: Mehmet Serif
authors.initials: MS
authors.lastname: Cansever
authors.affiliation: Department of Neurology, Division of Pediatric Neurology, Istanbul University Cerrahpasa Medical Faculty Kocamustafapasa Fatih, Istanbul, Turkey.
authors.forename: Gulcin
authors.initials: G
authors.lastname: Benbir
authors.affiliation: Department of Pediatrics, Division of Nutrition and Metabolism, Istanbul University Cerrahpasa Medical Faculty Kocamustafapasa Fatih, Istanbul, Turkey.
authors.forename: Ahmet
authors.initials: A
authors.lastname: Aydin
authors.affiliation: Department of Neurology, Division of Pediatric Neurology, Istanbul University Cerrahpasa Medical Faculty Kocamustafapasa Fatih, Istanbul, Turkey.
authors.forename: Cengiz
authors.initials: C
authors.lastname: Yalcinkaya
keywords: Dystonia; fucosidosis; globus pallidus hypointensity; magnetic resonance imaging