Jeavons syndrome

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 5):

  • 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 6). 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. 7) 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. 8) have suggested that there may be an Jeavons syndrome subtype that is associated with an impaired cognition.

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