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

Publié dansEuropean journal of paediatric neurology, vol. 18, no. 4, p. 516-519
Date de publication2014
Résumé

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.

Mots-clés
  • Child
  • Dystonia/complications/pathology
  • Female
  • Fucosidosis/complications/diagnosis
  • Globus Pallidus/pathology
  • Humans
  • Magnetic Resonance Imaging
  • Skin Diseases/complications
Citation (format ISO)
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. 516–519. doi: 10.1016/j.ejpn.2014.02.005
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ISSN du journal1090-3798
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Création17.03.2015 13:02:00
Première validation17.03.2015 13:02:00
Heure de mise à jour14.03.2023 23:07:45
Changement de statut14.03.2023 23:07:45
Dernière indexation16.01.2024 17:37:02
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