Variable phenotype and severity of sialidosis expressed in two siblings presenting with ataxia and macular cherry-red spots.

doi:10.1016/j.jocn.2012.12.014

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Article

Variable phenotype and severity of sialidosis expressed in two siblings presenting with ataxia and macular cherry-red spots.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Sept 2013

Vieira de Rezende Pinto Wladimir Bocca, Sgobbi de Souza Paulo Victor, Pedroso José Luiz, Barsottini Orlando G P

Abstract excerpt

Sialidosis is a rare lysosomal storage disease with a wide clinical spectrum ranging from nearly asymptomatic to severe presentations. We present two Brazilian siblings with sialidosis, the first patient with sialidosis type I, and the second with sialidosis type II. Our report reinforces the relevance of ophthalmologic evaluation in patients with early and late-onset ataxias, if an association with myoclonus or...

Topics

Adult
Ataxia
Diagnosis, Differential
Female
Genetic Variation
Humans
Mucolipidoses
Phenotype
Retinal Diseases
Severity of Illness Index
Siblings

Source

Open in PubMed

Identifiers

PMID: 23870618
DOI: 10.1016/j.jocn.2012.12.014

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