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 Victor

doi:10.1016/j.ejpn.2014.02.005

Scientific article

Case report

English

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

Contributors

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

Published in

European journal of paediatric neurology, vol. 18, no. 4, p. 516-519

Publication date

2014

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.

Keywords

Child
Dystonia/complications/pathology
Female
Fucosidosis/complications/diagnosis
Globus Pallidus/pathology
Humans
Magnetic Resonance Imaging
Skin Diseases/complications

UNIGE affiliation entities

UNIGE research groups

Radiologie neuro-diagnostique et neuro-interventionnelle en pédiatrie (842)

Citation (ISO format)

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

Article (Published version)

Identifiers

PID : unige:55174
DOI : 10.1016/j.ejpn.2014.02.005
PMID : 24636010

Journal ISSN

1090-3798

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17/03/2015 13:02:00

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17/03/2015 13:02:00

Update

14/03/2023 23:07:45

Status update

14/03/2023 23:07:45

Last indexation

30/10/2024 23:47:20

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

Contributors

Published in

Publication date

Abstract

Keywords

UNIGE affiliation entities

UNIGE research groups

Citation (ISO format)

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Journal ISSN

Technical informations

Creation

First validation

Update

Status update

Last indexation