Jeavons syndrome

Jeavons syndrome also called epilepsy with eyelid myoclonia, is a rare form of generalized epilepsy that is characterized by the triad of eyelid myoclonia with or without absences, eye closure-induced generalized paroxysms and photosensitivity ¹. Jeavons syndrome typically starts between 2-14 years (most between 6-8 years) and is more common in girls. Seizures in children with Jeavons syndrome are frequent and occur multiple times a day. The patients’ early history, as well as appearance and neurological examination, is usually normal ². Cognitive development is often normal, but people with Jeavons syndrome may have some degree of learning problems or cognitive disability. Jeavons syndrome is very rare and accounts for only 1-2% of people seen at specialty epilepsy centers.

Jeavons syndrome is a rare form of generalized epilepsy that can have several possible seizure types ³:

• Eyelid myoclonia with or without absence seizures:
  • Eyelid myoclonia is the most common seizure type. These consist of brief and repeated myoclonic jerks of the eyelids, eyeballs roll upwards, and the head may move slightly backwards.
  • These events usually last less than 6 seconds but can happen many times per day.
  • They are often induced or brought about by flashing lights or closing the eyes.
  • If a person has a brief loss of awareness with the eyelid myoclonia, the seizure is called eyelid myoclonia with absence.
  • About 1 out of 5 people can develop eyelid myoclonic status epilepticus. This happens when eyelid myoclonia and absences occur back-to-back over a prolonged period.
• Generalized tonic-clonic seizures:
  • Generalized tonic-clonic seizures are seen infrequently and occur mostly in older children and adolescents. They are usually provoked by lack of sleep or light stimulation.
• Myoclonic jerks of the arms and legs may occur but are not frequent.

The cause of Jeavons syndrome (epilepsy with eyelid myoclonia) is unknown, but there is likely a genetic predisposition (tendency).  About 1 in 10 people have a history of febrile seizures.

Seizures and eyelid myoclonia can be hard to completely control with medication. Medication works better for generalized tonic-clonic seizures than for eyelid myoclonia. If seizure medicines control a person’s generalized tonic-clonic and absence seizures, other medication trials to improve isolated eyelid myoclonia often don’t help or may not be needed.

Jeavons syndrome (epilepsy with eyelid myoclonia) is typically life-long. It rarely goes away and people will need seizure medicines throughout their life.

Jeavons syndrome causes

The cause of Jeavons syndrome is unknown. A family history of seizures or epilepsy, usually generalized epilepsy, has been reported in up to 80% of children with this seizure type.

Jeavons syndrome signs and symptoms

Jeavons syndrome is a generalized epileptic condition clinically characterized by eyelid myoclonia with or without absences, eye closure‐induced electroencephalography (EEG) paroxysms, and photosensitivity; in addition, rare tonic–clonic seizures may also occur ⁴.

Jeavons syndrome can have several possible seizure types ³:

• Eyelid myoclonia with or without absence seizures:
  • Eyelid myoclonia is the most common seizure type. These consist of brief and repeated myoclonic jerks of the eyelids, eyeballs roll upwards, and the head may move slightly backwards.
  • These events usually last less than 6 seconds but can happen many times per day.
  • They are often induced or brought about by flashing lights or closing the eyes.
  • If a person has a brief loss of awareness with the eyelid myoclonia, the seizure is called eyelid myoclonia with absence.
  • About 1 out of 5 people can develop eyelid myoclonic status epilepticus. This happens when eyelid myoclonia and absences occur back-to-back over a prolonged period.
• Generalized tonic-clonic seizures:
  • Generalized tonic-clonic seizures are seen infrequently and occur mostly in older children and adolescents. They are usually provoked by lack of sleep or light stimulation.
• Myoclonic jerks of the arms and legs may occur but are not frequent.

Jeavons syndrome diagnosis

A good history is done by your health care provider. A detailed description of what happens during your seizures is very helpful.

• An EEG (electroencephalogram) is done.
  • In many instances, a prolonged video EEG is also required.
  • The video EEG is the most important test and will help in making the diagnosis of Jeavons syndrome.
  • During the EEG, you (or your child) will be asked to repeatedly close and open your eyes and photic stimulation with a strobe light will be used.
  • Between seizures, brief bursts of fast (3-6 Hz) generalized polyspike-and-wave are typical on the EEG.
  • Eye closure and photic stimulation activates the EEG and often elicits eyelid myoclonia with or without absences.
  • The EEG abnormality is also brought about by hyperventilation.
• MRI (magnetic resonance imaging) scans are usually normal, but may be done to exclude a brain abnormality.
• Genetic testing is usually negative.

Jeavons syndrome treatment

Seizures in epilepsy with Jeavons syndrome tend to be resistant to anti-seizure medication.

• Medications often tried are levetiracetam (Keppra), valproic acid (Depakote/Depakene), ethosuximide (Zarontin), lamotrigine (Lamictal), topiramate (Topamax), and clobazam (Onfi), amongst others. Medications are typically used in combination.
• Medicines such as oxcarbazepine (Trileptal/Oxtellar XR), carbamazepine (Tegretol/Epitol), lacosamide (Vimpat), and phenytoin (Dilantin/Phenytek) are typically not used as they may worsen seizures.
• Children with this form of epilepsy will benefit from using commercially available Zeiss (Z1) blue lenses. In many instances, the episodes may reduce significantly when using these lenses.
• The ketogenic diet may also be tried.

Jeavons syndrome prognosis

Jeavons syndrome (epilepsy with eyelid myoclonia) is a lifelong disease. Generalized tonic-clonic and absence seizures respond better to treatment than eyelid myoclonia.

Childhood-onset epilepsy syndromes, in general, show highly variable clinical outcome with regard to seizure remission and patient’s cognitive development and adaptive skills ⁵. Neurocognition in Jeavons syndrome patients is considered normal but is in fact poorly known. There are only two cognition-related studies. Fournier-Goodnight et al. ⁶ have defined neurocognitive functioning in a detailed manner in six young patients, whose global IQ ranged from low-average to borderline impaired. Capovilla et al. ⁷ have suggested that there may be an Jeavons syndrome subtype that is associated with an impaired cognition.

References

1. Giráldez, B.G., & Serratosa, J. (2015). Jeavons syndrome as an occipital cortex initiated generalized epilepsy: Further evidence from a patient with a photic-induced occipital seizure. Seizure, 32, 72-74. https://www.seizure-journal.com/article/S1059-1311(15)00216-2/pdf
2. Striano S, Capovilla G, Sofia V, et al. Eyelid myoclonia with absences (Jeavons syndrome): a well-defined idiopathic generalized epilepsy syndrome or a spectrum of photosensitive conditions? Epilepsia 2009; 50: 15–19.
3. Epilepsy with Eyelid Myoclonia (Jeavons Syndrome). https://www.epilepsy.com/learn/types-epilepsy-syndromes/epilepsy-eyelid-myoclonia-jeavons-syndrome
4. Striano, S., Capovilla, G., Sofia, V., Romeo, A., Rubboli, G., Striano, P. and Trenité, D.K.‐N. (2009), Eyelid myoclonia with absences (Jeavons syndrome): A well‐defined idiopathic generalized epilepsy syndrome or a spectrum of photosensitive conditions?. Epilepsia, 50: 15-19. doi:10.1111/j.1528-1167.2009.02114.x
5. Panayiotopoulos CP. Chapter 7: epileptic encephalopathies in infancy and early childhood in which the epileptiform abnormalities may contribute to progressive dysfunction. In: Panayiotopoulos CP. (ed.) The epilepsies: seizures, syndromes and management. London: Bladon Medical Publishing, 2005, pp. 137–193.
6. Fournier-Goodnight AS, Gabriel M, Perry MS. Preliminary neurocognitive outcomes in Jeavons syndrome. Epilepsy Behav 2015; 52: 260–263.
7. Capovilla G, Striano P, Gambardella A, et al. Eyelid fluttering, typical EEG pattern, and impaired intellectual function: a homogeneous epileptic condition among the patients presenting with eyelid myoclonia. Epilepsia 2009; 50: 1536–1541.