Annals of Indian Academy of Neurology
  Users Online: 1744 Home | About the Journal | InstructionsCurrent Issue | Back IssuesLogin      Print this page Email this page  Small font size Default font size Increase font size
CASE REPORT
Year : 2015  |  Volume : 18  |  Issue : 4  |  Page : 471-474

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


1 Department of Pediatrics, Division of Nutrition and Metabolism, Istanbul University Cerrahpasa Medical Faculty Kocamustafapasa Fatih, Istanbul, Turkey
2 Department of Neurology, Division of Pediatric Neurology, Istanbul University Cerrahpasa Medical Faculty Kocamustafapasa Fatih, Istanbul, Turkey

Correspondence Address:
Tanyel Zubarioglu
Department of Pediatrics, Division of Nutrition and Metabolism, Istanbul University Cerrahpasa Medical Faculty Kocamustafapasa Fatih, Istanbul
Turkey
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-2327.160090

Rights and Permissions

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.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed2541    
    Printed28    
    Emailed0    
    PDF Downloaded48    
    Comments [Add]    

Recommend this journal