title: Variable phenotype and severity of sialidosis expressed in two siblings presenting with ataxia and macular cherry-red spots.
abstract: 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 dysmorphic features is present or not. Also, we demonstrate that sialidosis might represent a single genetic entity with variable clinical expression through these two siblings.
authors.affiliation: Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo, Rua Botucatu, 740, Vila Clementino, São Paulo 04023-900, Brazil.
authors.forename: Wladimir Bocca
authors.initials: WB
authors.lastname: Vieira de Rezende Pinto
authors.forename: Paulo Victor
authors.initials: PV
authors.lastname: Sgobbi de Souza
authors.forename: José Luiz
authors.initials: JL
authors.lastname: Pedroso
authors.forename: Orlando G P
authors.initials: OG
authors.lastname: Barsottini
mesh_terms: D000328:Adult; D001259:Ataxia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D009081:Mucolipidoses / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype; D012164:Retinal Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D012720:Severity of Illness Index; D035781:Siblings
keywords: Clinical variability; Macular cherry-red spots; Neuraminidase deficiency; Sialidosis