title: Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin.
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.
authors.affiliation: University Children's Hospital, Inselspital Bern, Switzerland. Electronic address: matthias.gautschi@insel.ch.
authors.forename: Matthias
authors.initials: M
authors.lastname: Gautschi
authors.affiliation: Pediatric Radiology Unit, Geneva Children's Hospital, Switzerland.
authors.forename: Laura
authors.initials: L
authors.lastname: Merlini
authors.affiliation: Department of Dermatology, University Hospital Geneva, Switzerland.
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Calza
authors.affiliation: Molecular & Medical Genetics, Oregon Health & Science University, USA.
authors.forename: Susan
authors.initials: S
authors.lastname: Hayflick
authors.affiliation: University Institute of Clinical Chemistry, Inselspital Bern, Switzerland.
authors.forename: Jean-Marc
authors.initials: JM
authors.lastname: Nuoffer
authors.affiliation: Pediatric Neurology, Geneva Children's Hospital, Switzerland.
authors.forename: Joel
authors.initials: J
authors.lastname: Fluss
mesh_terms: D002648:Child; D004421:Dystonia / Q000150:complications* / Q000473:pathology*; D005260:Female; D005645:Fucosidosis / Q000150:complications* / Q000175:diagnosis*; D005917:Globus Pallidus / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D012871:Skin Diseases / Q000150:complications*
keywords: Angiokeratoma; Dystonia; Fucosidosis; MRI; NBIA; Neurodegeneration with brain iron accumulation