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

Gautschi, Matthias; Merlini, Laura; Calza, Anne-Marie; Hayflick, Susan; Nuoffer, Jean-Marc; Fluss, Joel (2014). 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, 18(4), pp. 516-519. Elsevier 10.1016/j.ejpn.2014.02.005

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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.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Institute of Clinical Chemistry
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine

UniBE Contributor:

Gautschi, Matthias and Nuoffer, Jean-Marc

Subjects:

600 Technology > 610 Medicine & health

ISSN:

1090-3798

Publisher:

Elsevier

Language:

English

Submitter:

Barbara Keller

Date Deposited:

05 Mar 2015 16:30

Last Modified:

09 Nov 2015 11:40

Publisher DOI:

10.1016/j.ejpn.2014.02.005

PubMed ID:

24636010

Uncontrolled Keywords:

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

BORIS DOI:

10.7892/boris.64130

URI:

https://boris.unibe.ch/id/eprint/64130

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