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Related Experiment Videos

Blepharoclonus and Arnold-Chiari malformation.

D E Jacome1

  • 1Department of Medicine, Franklin Medical Center, 164 High Street, Greenfield, Massachusetts 01301, USA. dj@crocker.com

Acta Neurologica Scandinavica
|August 9, 2001
PubMed
Summary

Blepharoclonus (BLC), involuntary eyelid tremors, is a sign of Arnold-Chiari malformation (ACM). This study highlights BLC as an underdiagnosed neuro-ophthalmological indicator of ACM, often following head trauma.

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Area of Science:

  • Neuro-ophthalmology
  • Neurology
  • Genetics

Background:

  • Arnold-Chiari malformation (ACM) is a structural defect in the cerebellum.
  • Blepharoclonus (BLC) involves involuntary tremors of the orbicularis oculi muscles during eyelid closure.
  • BLC can occur after head trauma.

Observation:

  • Four patients with ACM and BLC were studied.
  • Patients presented with symptoms like facial numbness, headaches, and post-traumatic symptoms.
  • Associated conditions included dural venous malformation, empty-sella turcica, familial digital dysplasia, Ehlers-Danlos syndrome (EDS), cervical spinal fusion, and cervical syrinx.

Findings:

  • All patients demonstrated ACM on brain MRI.
  • BLC was consistently observed during gentle eyelid closure in all patients.
  • Oculopterygoid synkinesis was noted in one patient.

Implications:

  • BLC is an underdiagnosed neuro-ophthalmological sign associated with ACM.
  • Recognizing BLC may aid in the early diagnosis of ACM.
  • Further research is needed to understand the BLC-ACM connection.

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