1 results match your criteria: "Istanbul University Cerrahpasa Medical Faculty Kocamustafapasa Fatih[Affiliation]"
Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation.
Ann Indian Acad Neurol
December 2015
Department of Neurology, Division of Pediatric Neurology, Istanbul University Cerrahpasa Medical Faculty Kocamustafapasa Fatih, Istanbul, Turkey.
Article Synopsis
- Fucosidosis is a rare lysosomal storage disorder with symptoms including developmental delays and distinct facial features.
- A case study of a 7-year-old girl diagnosed with fucosidosis demonstrates atypical symptoms, such as dystonic movement and abnormal MRI findings, despite not exhibiting some common features like hepatosplenomegaly.
- The study emphasizes the importance of recognizing fucosidosis in differential diagnoses for specific MRI findings and urges awareness of its atypical manifestations to prevent diagnostic delays among clinicians.