Junyu Lin et al.

Confidential. © 2021 American Academy of Neurology 1

Resident & Fellow Section Teaching Video NeuroImage

A 12-year-old Girl with Oculogyric Crises

Junyu Lin et al.

Confidential. © 2021 American Academy of Neurology 2

Vignette

A 12-year-old girl presented to the emergency department for forced upward eyes deviation for two hours accompanied by craniocervical dystonia without consciousness loss.

She had experienced similar attacks several times during the half year, which were usually triggered by emotional events.

She also reported a 7-month history of sudden-onset gait disturbances which deteriorated after these attacks.

Neurological examination revealed bradykinesia and rigidity of all limbs without ataxia.

Brain magnetic resonance imaging and electroencephalogram were unremarkable.

Junyu Lin et al

^.

Confidential. © 2021 American Academy of Neurology 3

Imaging

Junyu Lin et al.

Click here to access

Video online

Confidential. © 2021 American Academy of Neurology 4

Oculogyric crises in a 12-year-old girl with rapid-onset- dystonia-parkinsonism

 Normal electroencephalogram and consciousness suggested oculogyric crises rather than epilepsia.

 A de novo pathogenic variant in ATP1A3 (c. 2767G>A) confirmed a diagnosis of rapid-onset-dystonia-parkinsonism, which is not

generally dopa-responsive

¹

.

 Since her oculogyric crises might correlate with a hypodopaminergic state

²

, levodopa was beneficial.

 Adding flunarizine improved her condition.

Junyu Lin et al.