Temporal Seizure Emerging From a Cluster of Eyelid Myoclonia in a Teenager With Jeavon Syndrome

PRACTICAL IMPLICATIONS

In addition to focal occipital seizures, eyelid myoclonia with absences (EMA) can present with focal seizures arising from the temporoperisylvian region. Recognition of focal seizures in EMA can have implications in the management and can be helpful in avoiding focal resections in this generalized epilepsy syndrome.

Eyelid myoclonia with absences (EMA) or Jeavon¹ syndrome is an idiopathic generalized epilepsy (IGE) characterized by eyelid myoclonia with or without absences, eye closure elicited EEG paroxysms (generalized polyspikes or spike-wave complexes), and photosensitivity.

Interictal EEG shows generalized discharges. There are infrequent reports of irregular posterior quadrant epileptiform discharges² and photic-induced focal occipital seizures^3–5 in patients with EMA. Pathophysiology analysis has implicated the role of the occipital cortex in EMA.

We describe a rare case of a temporoperisylvian seizure emerging from an eyelid myoclonia cluster in a patient with EMA.

Case

A 13-year-old girl presented with poorly controlled absence and generalized tonic clonic seizure seizures that initially started at age 10 years. She had daily seizures in the morning and while practicing outdoor sports. During some seizures, she experienced head version to the right. Birth and development were normal. Outpatient EEG showed generalized spikes, polyspikes, eyelid myoclonia, and photosensitivity, suggesting the diagnosis of EMA.

At age 13 years, she was admitted to the Epilepsy Monitoring Unit for seizure burden assessment and medication optimization because of inadequate seizure control. During video EEG, normal posterior dominant rhythm and sleep structures were seen. Eye closure elicited generalized polyspikes and generalized spikes maximum over the bioccipital regions were seen (figure 1, A and E). Some EEG paroxysms were associated with eyelid myoclonia. In addition, EEG showed independent and bisynchronous right and left parieto-occipital discharges (figure 1C). Left posterior lateral and posterior temporal sharp waves were seen during sleep (figure 1D). Photoparoxysmal response was noted at frequencies of 10–20 Hz (figure 1B). Frequent seizures characterized by eyelid myoclonia were seen. Associated EEG demonstrated generalized polyspikes maximum in the biposterior head regions elicited by eye closure (figure 1F). These findings confirmed the diagnosis of EMA.

Figure 1. EEG Findings in the Patient.

(A) Generalized spikes maximum in the bioccipital regions. (B) Photoparoxysmal response at 15 Hz characterized by generalized polyspikes maximum in the bioccipital regions. (C) Bisynchronous polyspikes seen over the parieto-occipital regions. (D) Note focal left posterior temporal spike (black arrow). Two seconds later, a generalized polyspike discharge is seen. (E) Eyelid closure induced EEG paroxysms. Note the generalized polyspikes bioccipital discharges immediately at the end of each eyelid closure. (F) Note the generalized polyspike discharges elicited by eyelid closure. The epileptiform discharges continue for several seconds in association with a clinical seizure characterized by eyelid myoclonia. All EEGs are shown in montage 1.

During this video EEG, we also recorded a 9-minute-long seizure out of sleep. It began when the lights were turned off. It started with a cluster of eyelid myoclonia, ∼1 per second as the only symptoms for ∼4.5 minutes (figure 2). During this phase, the patient was responsive. Corresponding EEG showed bursts of posterior-dominant generalized polyspikes concurrent with eyelid myoclonia. Then, she became unresponsive and had oral automatisms. EEG in this phase showed a rhythmic theta activity in the left posterior temporal region (maximum T7-P7). As the seizure progressed, the patient developed clonic activity on the right side of the neck that marched to the right arm and right leg. She also had right head version.

Figure 2. EEG Findings During Focal Posterior Temporal Seizure Emerging From a Cluster of Eyelid Myoclonia.

(A) Onset of seizure with a cluster of eyelid myoclonia. The patient continues to respond during this phase of seizure. (B) Four minutes after the seizure onset, clusters of eyelid myoclonia continue and the patient continues to respond. (C) Four minutes and 45 seconds after the seizure onset, note the concomitant left temporal seizure onset (black arrow). The patient stops responding and is observed to have a versive head deviation to the right. (D) Five minutes and 10 seconds after the seizure onset, note the ongoing seizure in the left temporal region. The patient has oral automatisms and right neck/arm clonic activity at this time. (E) Five minutes and 45 seconds after the seizure onset, EEG demonstrates evolving left temporal seizure with ongoing repetitive spiking. The patient has right leg clonic activity at this time. (F) Seven minutes and 15 seconds after the seizure onset, theta/delta activity is seen evolving over the left hemisphere, which spreads to involve the left parieto-occipital region. The patient experiences head clonic activity to the right and continues to remain unresponsive. Postictal EEG (not shown in the figure), seizure stopped abruptly after 9 minutes. Then, there was postictal suppression of the posterior epileptiform discharges in the left hemisphere while spikes persisted in the right hemisphere (P8). All EEGs are shown in montage 1. Green arrows indicate the sequence of the seizures starting left and down. The sequence of seizures is also represented but the letter A-F.

She was loaded with levetiracetam, following which photoparoxysmal response and eye closure activated interictal discharges dramatically improved. Brain MRI was normal. However, fluorodeoxyglucose PET and quantitative PET scans showed bilateral asymmetric hypometabolism maximum in the left hemisphere, especially in the posterior quadrant.

Discussion

Focal posterior quadrant discharges in EMA may be seen because of alpha-rhythm generator malfunction in the occipital cortex,² which may play a part in seizures induced by eye closure and photic stimulation.

A study investigating functional MRI findings in EMA compared with other patients found greater blood oxygenation level–dependent signal in relation to eye closure in the posterior thalamus and visual cortex.⁶ Connectivity of neuronal electrical activity in patients with EMA during the resting state has shown reduced physiologic alpha over the occipital cortex.⁷ There are reports of photic stimulation–induced seizures with electroclinical features localizing to the occipital cortex.^3–5 These findings provide evidence of altered occipital cortex activity, its relation with photosensitivity, and its role in generating epileptiform activity in EMA.

Our patient represents a rare case of EMA with spontaneous concomitant left temporoperisylvian seizure. It is possible that she has independent focal and generalized epilepsy. However, the posterior temporal and the occipital cortex have anatomic proximity, and they are connected via an association fiber tract called the inferior longitudinal fasciculus. Therefore, in this case, focal temporoperisylvian seizures triggered by a hyperexcitable posterior temporo-occipital cortex are more likely. This may suggest the involvement of the posterior temporal cortex in addition to the occipital cortex in the pathophysiology of EMA. This case has important implications in expanding the phenotypic spectrum of EMA. Understanding this expanded spectrum can be helpful in avoiding unnecessary focal surgeries in patients with IGE with EMA.

Appendix. Authors

Study Funding

No targeted funding reported.

Disclosure

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