Eyelid myoclonia with and without absences

C P Panayiotopoulos MD PhD (Dr. Panayiotopoulos of St. Thomas' Hospital has no relevant financial relationships to disclose.)
Jerome Engel Jr MD PhD, editor. (Dr. Engel of the David Geffen School of Medicine at the University of California, Los Angeles, has no relevant financial relationships to disclose.)
Originally released July 13, 1999; last updated April 18, 2017; expires April 18, 2020

This article includes discussion of eyelid myoclonia with and without absences, eyelid myoclonia, eyelid myoclonus, and Jeavons syndrome. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.

Overview

Eyelid myoclonia with or without absences is a form of epileptic seizure manifesting with myoclonic jerks of the eyelids, often with brief absences. These seizures are mainly precipitated by closing of the eyes and lights. They occur in symptomatic, possibly symptomatic, and idiopathic generalized epilepsies. Most authors support the view that eyelid myoclonia with absences is the defining seizure type of an idiopathic syndrome (Jeavons syndrome) of reflex epilepsy, which is genetically determined, has age-related onset, and affects otherwise normal children, with a female preponderance. Jeavons syndrome is probably lifelong with continuing seizures in adult life. Eyelid myoclonia is often confused with facial tics or self-induction of seizures. In this article, the author details developments in the clinical manifestations, pathophysiology, genetics, and pharmacological treatment of eyelid myoclonia with absences.

Key points

 

• Eyelid myoclonia with absences is a distinct type of epileptic seizure that is often misdiagnosed as facial tics or another nonepileptic paroxysmal event of eyelid jerking.

 

• The characteristic eyelid myoclonia, if seen once, will never be forgotten or confused with other conditions.

 

• A main misconception is that eyelid myoclonia with or without absences is an attempt to self-induce seizures.

 

• Jeavons syndrome is a type of reflex photosensitive epilepsy that is clinically marked with eyelid myoclonia.

 

• Jeavons syndrome is myoclonic, rather than absence, epilepsy.

Historical note and terminology

The first documentation of eyelid myoclonia was by Radovici and colleagues. They reported and filmed the seizures of a 20-year-old man who, from the age of 10 years, had photically induced "frequent and spasmodic blinking of the eyelids with rhythmical movements [of] both rotating and elevating of the head towards the sun" (Radovici et al 1932).

In 1977 Jeavons described “eyelid myoclonia and absences” as follows (Jeavons 1977):

 

Eyelid myoclonia and absences show a marked jerking of the eyelids immediately after eye-closure and there is an associated brief bilateral spike and wave activity. The eyelid movement is like rapid blinking and the eyes deviate upwards, in contrast to the very slight flicker of eyelids which may be seen in a typical absence in which the eyes look straight ahead. Brief absences may occur spontaneously and are accompanied by 3 Hz spike and wave discharges…. All patients are photosensitive. The mean age of onset is 6 years.

Eyelid myoclonia with absences has been studied extensively (Dalla Bernandina et al 1989; Gobbi et al 1989; Appleton et al 1993; Bianchi and Italian League Against Epilepsy 1995; Ferrie et al 1996; Giannakodimos and Panayiotopoulos 1996; Panayiotopoulos et al 1996a; Panayiotopoulos et al 1996b; Striano et al 2002; Striano et al 2009; Ferrie 2004; Covanis 2007; Covanis 2010; Panayiotopoulos 2005; Panayiotopoulos 2010; Joshi and Patrick 2007; Capovilla et al 2009; Caraballo et al 2009; Perez-Errazquin et al 2010; Vaudano et al 2014; Nar Senol et al 2015). In recognition of Jeavons' contribution, Duncan and Panayiotopoulos proposed the name “Jeavons syndrome” for eyelid myoclonia with absences in a book devoted to this condition (Duncan and Panayiotopoulos 1996); see also (Panayiotopoulos 2005; Panayiotopoulos 2010; Covanis 2007; Covanis 2010; Striano et al 2009). However, the ILAE formal reports do not recognize Jeavons syndrome (eyelid myoclonia with absences) as a separate syndrome (Engel 2001; Engel 2006; Berg 2010). Instead, eyelid myoclonia, the seizure, is classified as a myoclonic seizure type by the ILAE Task Force as follows:

 

Eyelid myoclonia: The degree to which these recurrent events (5 to 6 Hz) are associated with impairment of consciousness has not been adequately documented, and should be. In some patients, they can be provoked by eye closure. The seizure type, however, does exist as a unique entity (Engel 2006).

Furthermore, the 2010 ILAE proposals classify eyelid myoclonia as a type of absence seizure with special features: (1) typical, (2) atypical, and (3) absence with special features (myoclonic absence and eyelid myoclonia) (Berg et al 2010). In the ILAE “Epilepsy Diagnosis” manual, absences with eyelid myoclonia are considered as 1 of the 4 types of generalized absence seizures (typical, atypical, myoclonic, with eyelid myoclonia) and are described as follows (Commission on Classification and Terminology of the International League Against Epilepsy 2017):

 

Absence with eyelid myoclonia. Absence with eyelid myoclonia is absence seizures accompanied by brief, repetitive, often rhythmic, fast (4 to 6 Hz) myoclonic jerks of the eyelids with simultaneous upward deviation of the eyeballs and extension of the head. Seizures are typically very brief (less than 6 seconds in duration), and multiple seizures occur on a daily basis. Mostly awareness is retained.

   

Caution. If myoclonic seizure with abduction of the upper limbs, then consider myoclonic absence seizures.

 

EEG background. Please refer to specific syndrome in which this seizure type occurs.

 

Ictal EEG. High amplitude generalized spike-and-wave and polyspike-and-wave at a frequency of 3 to 6Hz, triggered by eye closure and intermittent photic stimulation.

   

Caution. Slow spike-and-wave (less than 2.5 Hz) is not seen.

 

Differential diagnosis.

   

• Myoclonic absence: 3 Hz myoclonic jerks of upper limbs with tonic abduction.

 

 

• Typical absence (with eyelid flutter)

 

Related syndromes.

   

• Epilepsy with eyelid myoclonias

 

 

• Occasionally seen in other genetic generalized epilepsies and Dravet syndrome

A genetic generalized epilepsy is an epilepsy with generalized seizures associated with generalized epileptiform EEG patterns, such as generalized spike wave activity (Commission on Classification and Terminology of the International League Against Epilepsy 2017).

The latest ILAE position paper of the operational classification of seizure types considers “absence with eyelid myoclonia” as a new seizure type categorized as a nonmotor seizure (Fisher et al 2017a; Fisher et al 2017b):

 

Generalized seizures are divided into motor and nonmotor (absence) seizures. Nonmotor (absence) seizures are typical or atypical, or seizures that present prominent myoclonic activity or eyelid myoclonia. Further subdivisions are similar to those of the 1981 classification, with the addition of myoclonic-atonic seizures, common in epilepsy with myoclonic-atonic seizures (Doose syndrome), myoclonic-tonic-clonic seizures common in juvenile myoclonic epilepsy, myoclonic absence, and absence seizures with eyelid myoclonia seen in the syndrome described by Jeavons and elsewhere. Generalized manifestations of seizures can be asymmetrical, rendering difficult the distinction from focal-onset seizures. The word “absence” has a common meaning, but an “absent stare” is not synonymous with an absence seizure, since arrest of activity also occurs in other seizure types.

Further, this report clarifies the following (Fisher et al 2017a; Fisher et al 2017b):

 

“Seizures with eyelid myoclonia could logically have been placed under the motor category, but since eyelid myoclonia are most significant as features of absence seizures, seizures with eyelid myoclonia were placed in the nonmotor/absence category. Seizures with eyelid myoclonia may even rarely display focal features. Similarly, myoclonic absence seizures potentially have features of both absence and motor seizures, and could have been placed in either group. However, it is recognized that awareness and responsiveness can be at least partially retained during some generalized seizures, for example, with brief absence seizures, including absence seizures with eyelid myoclonias or myoclonic seizures.

In this article and other publications, a significant number of video-EEG recordings are included to document that eyelid myoclonia is the more obvious clinical manifestation and can also occur alone without impairment of consciousness (Burneo et al 2004; Panayiotopoulos 2005; Covanis 2007; Hannawi et al 2014; Brinciotti and Matricardi 2015). In eyelid myoclonia with absences, impairment of consciousness is usually mildly impaired (absence). “The eyelid movements are very obvious and can be seen at a distance--parents often regard them as ticks” (Jeavons 1996).

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