Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin.
Fucosidosis is a rare lysosomal storage disease. A 14-year-old girl is presented, with recurrent infections, progressive dystonic movement disorder and mental retardation with onset in early childhood. The clinical picture was also marked by mild morphologic features, but absent dysostosis multiplex and organomegaly. MRI images at 6.5 years of age were reminiscent of pallidal iron deposition ("eye-of-the-tiger" sign) seen in neurodegeneration with brain iron accumulation (NBIA) disorders. Progressively spreading angiokeratoma corporis diffusum led to the correct diagnosis. This case extends the scope of clinical and neuroradiological manifestations of fucosidosis.
['Gautschi|Matthias|M|', 'Merlini|Laura|L|', 'Calza|Anne-Marie|AM|', 'Hayflick|Susan|S|', 'Nuoffer|Jean-Marc|JM|', 'Fluss|Joel|J|']
D002648:Child D004421:Dystonia D005260:Female D005645:Fucosidosis D005917:Globus Pallidus D006801:Humans D008279:Magnetic Resonance Imaging D012871:Skin Diseases
Fucosidosis Dystonia MRI Neurodegeneration with brain iron accumulation NBIA Angiokeratoma