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

Matthias Gautschi, Laura Merlini, Anne Marie Calza, Susan Hayflick, Jean Marc Nuoffer, Joel Fluss

Research output: Contribution to journalArticle

11 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)516-519
Number of pages4
JournalEuropean Journal of Paediatric Neurology
Volume18
Issue number4
DOIs
StatePublished - Jul 2014

Keywords

  • Angiokeratoma
  • Dystonia
  • Fucosidosis
  • MRI
  • NBIA
  • Neurodegeneration with brain iron accumulation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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