Jeavons Syndrome

Video EEGs show “frequent and brief high-amplitude (3 to 6 Hz) generalized spike and wave discharges of polyspikes, which occur after eye closure” and are frequently associated with eyelid myoclonia1. Typically, generalized tonic-clonic seizures do not occur, and all young untreated patients are photosensitive. Jeavons described it in 1977, JS has an onset in childhood (ranging from the age of 2 to 14 years with a peak at the age of 8), lasts a lifetime and is two-times more common in females2,3. Jeavons syndrome is not usually associated with abnormal development or intellectual disability4,5. Some identical twin studies support a genetic component to the syndrome2. Antimyoclonic drugs, such as levetiracetam have shown good clinical result.

Demographic data -Onset is typically in childhood with a peak at age 6-8 years (range 2-14 years).
-Predominant in girls.
-The prevalence of Jeavons syndrome is around 3% among adult patients with epileptic disorders and 13% among those with Idiopathic generalized epilepsy with absences.

Definition
Jeavons triad of: 1. eyelid myoclonia with and without absences 2. eye closure-induced seizures, EEG paroxysms 3. photosensitivity Jeavons syndrome refers to an idiopathic reflex epilepsy, which eyelid myoclonia is the defining seizure type.  -However, they continue eyelid fluttering on eye closure even after the phenomenon has regressed, as a habit, with no associated EEG discharges on eye closure.
-Jerking of the eyelids, upward deviation of the eyes and retropulsive movements of the head, immediately after eye closure, associated with generalized poly spike wave in the EEG.
-The head, instead of jerking, is drawn towards the light, as if by a magnet.
-When asked about their feelings, during the events, the patients are unable to explain, though the majority will admit that it is a pleasant feeling.
-If left untreated, may lead to a habitual urge for eye closure during periods of inactivity and boredom.
prolonged confusion states.

Pathophysiology
• The intensity of light alters the volume of the occipital cortex, thereby activating the epileptic cortex and/or the level of excitability. • Eye closure and IPS activate the epileptic occipital cortex and the excitabilities spread to the brainstem to produce EM. • EDs spread to the frontocentral cortex via either thalamocortical pathways to project generalized spike and waves associated EM with absences.
These spiky posterior alpha activities in JS may support the hypothesis of alpha rhythm generator malfunction in the occipital lobe

Diagnostic procedures
All tests apart from the EEG are normal.

Electroencephalography
Video-EEG is the single most important procedure for the diagnosis of eyelid myoclonia with or without absences. It shows frequent high-amplitude 3-6 Hz of mainly polyspikes .
Typically these are -related to eye closure, i.e. they occur immediately (within 0.5-2 s) on closing the eyes in an illuminated recording room and they are eliminated in total darkness -brief (1-6 s, commonly 2 or 3 s).

Differential Diagnosis
Eyelid myoclonia is often misdiagnosed as facial tics, sometimes for many years.

Management
-Valproate alone, or most probably in combination with clonazepam, levetiracetam, lamotrigine or ethosuximide, appears to be the most effective regimen.
-Clonazepam monotherapy is highly efficacious in eyelid myoclonia and myoclonic jerks; -Levetiracetam may be the most effective, because of its anti myoclonic and anti photosensitive properties.
-Lamotrigine is very effective in absence seizures but may exaggerate myoclonic jerks.
-Non-pharmacological treatments used for photosensitive patients (such as wearing special glasses or the newly commercially available blue Z1 lenses)

Prognosis
• Jeavons syndrome is a lifelong disorder, even if seizures are well controlled with AEDs.
• Men have a better prognosis than women.
• There is a tendency or photosensitivity to disappear in middle age, but eyelid myoclonia persists.
• It is highly resistant to treatment and occurs many times a day, often without apparent absences and even without demonstrable photosensitivity.

Take Home Message
• As a simple rule of thumb, eyelid myoclonia is highly suggestive of Jeavons syndrome. This becomes more likely when eyelid myoclonia is combined with photosensitivity, and it is pathognomonic of the syndrome when it also occurs after eye closure. • The diagnosis of Jeavons syndrome is simple because the characteristic eyelid myoclonia, if seen once, will never be forgotten or confused with other conditions. Furthermore, the EEG with the characteristic eye-closure-related discharges and photosensitivity leaves no room for diagnostic error.