Blepharoclonus and Arnold-Chiari malformation

OBJECTIVE: Blepharoclonus (BLC) denotes a large amplitude, involuntary tremors of the orbicularis oculi muscles, observed during gentle closure of the eyelids. BLC may follow major head trauma. Four patients with Arnold-Chiari malformation (ACM) and BLC are described. MATERIALS AND METHODS: The first patient had facial numbness for 5 months; the remaining patients had headaches following minor head or cervical spinal injuries. Brain magnetic resonance imaging (MRI), electroencephalogram (EEG) blink reflexes, mental and facial nerve responses and facial electromyogram (EMG) were performed. RESULTS: All patients exhibited ACM on brain MRI. The first patient had coincidental dural venous malformation, empty-sella turcica and familial digital dysplasia. She exhibited oculopterygoid synkinesis. The last 3 patients had posttraumatic headache; the second and third patients had limited features of Ehlers-Danlos syndrome (EDS). The second patient had cervical spinal fusion and the fourth a cervical syrinx. All the patients had BLC on gentle eyelid closure. CONCLUSION: BLC is an underdiagnosed neuro-ophthalmological sign of ACM.