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

European Journal of Paediatric Neurology

Volumn 18, Issue 4, 2014, Pages 516-519

  Gautschi, Matthias ^a   Merlini, Laura ^b   Calza, Anne Marie ^c   Hayflick, Susan ^d   Nuoffer, Jean Marc ^a   Fluss, Joel ^b  

^a UNIVERSITY OF BERN   (Switzerland)

^b Geneva Children's Hospital   (Switzerland)

^c GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

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

Indexed keywords

ALPHA LEVO FUCOSIDASE; BACLOFEN;

ADOLESCENT; ARTICLE; BRAIN ATROPHY; CASE REPORT; CHILDHOOD DISEASE; CLINICAL FEATURE; DYSTONIC DISORDER; FABRY DISEASE; FEMALE; FUCOSIDOSIS; GASTROSTOMY; HUMAN; MENTAL DEFICIENCY; MUSCLE WEAKNESS; NEUROIMAGING; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RECURRENT INFECTION; VOMITING; CHILD; COMPLICATION; DYSTONIA; GLOBUS PALLIDUS; PATHOLOGY; SKIN DISEASE;

CHILD; DYSTONIA; FEMALE; FUCOSIDOSIS; GLOBUS PALLIDUS; HUMANS; MAGNETIC RESONANCE IMAGING; SKIN DISEASES;

EID: 84903180175     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2014.02.005     Document Type: Article

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