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Arquivos de Neuro-Psiquiatria

Print version ISSN 1678-4227

Online version ISSN 0004-282X

Arq. Neuro-Psiquiatr.  vol. 72n. 4

Images in Neurology

Eyelid retraction is not a pathognomonic sign of Machado-Joseph disease in the context of spinocerebellar ataxias

Retração palpebral não é um sinal patognomônico da doença de Machado-Joseph no contexto das ataxias espinocerebelares

Pedroso, José Luiz

Souza, Paulo Victor Sgobbi de

Pinto, Wladimir Bocca Vieira de Rezende

Albuquerque, Marcus Vinicius Cristino

Barsottini, Orlando G. P.

We describe three patients with spinocerebellar ataxia (SCA) and marked eyelid retraction: A 33-year-old woman with ataxia, pyramidal signs and eyelid retraction; genetic test confirmed SCA1 (Figure A). A 41-year-old man with ataxia, ophthalmoplegia, neuropathy and eyelid retraction; genetic test confirmed SCA2 (Figure B). A 68-year-old man with ataxia, neuropathy, nystagmus and eyelid retraction; genetic test confirmed SCA3 or Machado-Joseph disease (MJD) (Figure C).

Patients with SCA, other than MJD, in special SCA1, SCA2 and SCA10, may rarely present with eyelid retraction1,2,3. This neurological feature presumes a more widespread degenerative process involving the midbrain3. SCA patients with eyelid retraction and negative genetic test for MJD should be tested for other SCA subtypes, particularly SCA1, SCA2 and SCA102,3.

Thumbnail

                    . All three patients, SCA1 (A), SCA2 (B) and SCA3 (C) have widening of
                        the eyelid opening with white parts of the sclera appearing above and below
                        the limbus, characterizing eyelid retraction or Collier’s sign.
Figure
. All three patients, SCA1 (A), SCA2 (B) and SCA3 (C) have widening of the eyelid opening with white parts of the sclera appearing above and below the limbus, characterizing eyelid retraction or Collier’s sign.

References

  • 1
    Jardim LB, Pereira ML, Silveira I, Ferro A, Sequeiros J, Giugliani R. Neurologic findings in Machado-Joseph disease: relation with disease duration, subtypes, and (CAG)n. Arch Neurol 2001;58:899-904. Links
  • 2
    Pedroso JL. Diagnosis at a first glance? “Bulging eyes” as a clue for a more accurate diagnosis in spinocerebellar ataxias. Arq Neuropsiquiatr 2013;71:421-422. Links
  • 3
    Moro A, Munhoz RP, Arruda WO, Raskin S, Teive HA. Clinical relevance of “bulging eyes” for the differential diagnosis of spinocerebellar ataxias. Arq Neuropsiquiatr 2013;71:428-430. Links
Eyelid retraction is not a pathognomonic sign of Machado-Joseph disease in the context of spinocerebellar ataxias
  • Arq. Neuro-Psiquiatr.  vol. 72n. 4Eyelid retraction is not a pathognomonic sign of Machado-Joseph disease in the context of spinocerebellar ataxias Pedroso José Luiz Souza Paulo Victor Sgobbi de Pinto Wladimir Bocca Vieira de Rezende Albuquerque Marcus Vinicius Cristino Barsottini Orlando G. P. Author affiliationPermissions