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 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. ). A 41-year-old man with ataxia, ophthalmoplegia, neuropathy and eyelid retraction; genetic test confirmed SCA2 (Figure B 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. ). A 68-year-old man with ataxia, neuropathy, nystagmus and eyelid retraction; genetic test confirmed SCA3 or Machado-Joseph disease (MJD) (Figure C 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. ).
Patients with SCA, other than MJD, in special SCA1, SCA2 and SCA10, may rarely present with eyelid retraction11 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.,22 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.,33 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.. This neurological feature presumes a more widespread degenerative process involving the midbrain33 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.. SCA patients with eyelid retraction and negative genetic test for MJD should be tested for other SCA subtypes, particularly SCA1, SCA2 and SCA1022 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.,33 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..
References
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1Jardim 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.
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2Pedroso 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.
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3Moro 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.
Publication Dates
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Publication in this collection
Apr 2014
History
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Received
23 Oct 2013 -
Reviewed
28 Nov 2013 -
Accepted
18 Dec 2013
