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Title

Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin

Authors
Gautschi, Matthias
Hayflick, Susan
Nuoffer, Jean-Marc
Published in European Journal of Paediatric Neurology. 2014, vol. 18, no. 4, p. 516-9
Abstract 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.
Keywords ChildDystonia/complications/pathologyFemaleFucosidosis/complications/diagnosisGlobus Pallidus/pathologyHumansMagnetic Resonance ImagingSkin Diseases/complications
Identifiers
PMID: 24636010
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Structures
Research group Radiologie neuro-diagnostique et neuro-interventionnelle en pédiatrie (842)
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GAUTSCHI, Matthias et al. Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin. In: European Journal of Paediatric Neurology, 2014, vol. 18, n° 4, p. 516-9. https://archive-ouverte.unige.ch/unige:55174

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Deposited on : 2015-04-07

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