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

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 retraction^1,2,3. 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 SCA10^2,3.

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

• 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.
• 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.
• 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

• Publication in this collection
  Apr 2014

History

• Received
  23 Oct 2013
• Reviewed
  28 Nov 2013
• Accepted
  18 Dec 2013