| ACKNOWLEDGEMENTS AND DISCLOSURES
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Current disclosure:
Dr. Panayiotopoulos is a consultant emeritus in the department of Clinical
Neurophysiology and Epilepsies, St.Thomas' hospital, London, UK and he
also has a consultancy with UCB Pharma, Brussels, Belgium.
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Current thumbnail: Eyelid myoclonia with absences is
a form of epileptic seizures manifesting with myoclonic jerks of the
eyelids and brief absences. These 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 constitute an idiopathic epileptic syndrome (also known
as Jeavons syndrome), which is a genetically determined, age related and affects
otherwise normal children with a female preponderance. It is probably life
long with continuing seizures in adult life. In this update, C P Panayiotopoulos
MD PhD FRCP, Consultant Emeritus, Department of Clinical Neurophysiology and
Epilepsies, St. Thomas' Hospital, London details recent developments in the
pathophysiology, genetics and pharmacological treatment of eyelid myoclonia
with absences.
HISTORICAL NOTE AND NOMENCLATURE
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 with absences as a clinico-EEG
entity: "The characteristic seizure is a brief episode of marked
jerking of the eyelids with upwards deviation of the eyes, associated
with a generalized discharge of spike-wave, and occurring on closure
of the eyes. All patients are photosensitive. The mean age of onset is
6 years" (Jeavons 1977). Eyelid myoclonia with absences has been
studied extensively in recent years (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; 1996b; Striano et al 2002; Ferrie 2004). In recognition
of Jeavon's contribution, Duncan and Panayiotopoulos proposed the name “Jeavon
syndrome” for eyelid myoclonia with absences in a book devoted to this
condition (Duncan and Panayiotopoulos 1996; Panayiotopoulos 2005). However,
the current ILAE Task Force on Classification did not recognize Jeavon
syndrome (eyelid myoclonia with absences) as a separate syndrome (Engel
2001). Eyelid myoclonia with and without absences is the only accepted
separate seizure type, and is the topic of this chapter.
The most recent reviews on eyelid myoclonia with absences are by Covanis
(Covanis 2005) and Panayiotopoulos (Panayiotopoulos 2005).
CLINICAL MANIFESTATIONS
Eyelid myoclonia with absences has two components. The initial and more prominent
of these components is eyelid myoclonia. This may or may not progress to the
second component, which is mild impairment of consciousness (absence). The seizure
starts and ends abruptly with a duration of 3 to 5 seconds. Giannakodimos and
Panayiotopoulos documented the clinical manifestations of eyelid myoclonia with
absences with video-EEG studies as follows (Giannakodimos and Panayiotopoulos
1996):
Eyelid myoclonia. Eyelid myoclonia occurs mainly during the first
second of the EEG discharge and consists of repetitive, often rhythmic,
fast (4 Hz to 6 Hz), small- or large-range myoclonic jerks of the
eyelids. The eyelid jerks vary in force, amplitude, and numbers,
even for the same patient. In each seizure, there are more than 3
repetitive eyelid jerks.|{video:EMACP1v.avi}{caption:Video-EEG of
eyelid myoclonia with absences}{label:The patient exhibits eyelid
myoclonia with absences mainly on eye-closure and intermittent photic
stimulation.}||{diagram:eap1.bmp}{label:EEG of seizure in eyelid
myoclonia with absences (1)}{title:EEG of seizure in eyelid myoclonia
with absences}|Occasionally, there may only be a single jerk, but
often there is a series of rapid eyelid tremor-like jerks.|{video:EMACP3v.avi}{caption:Video-EEG
of long-standing eyelid myoclonia with absences}{label:In this Video-EEG of
a woman with long-standing eyelid myoclonia with absences, eyelid myoclonia
is consistently induced by eye closure in a lit room. This is completely abolished
when eye closure is performed in total darkness achieved with underwater goggles
covered with opaque tape.}||{diagram:eap2.bmp}{label:EEG of seizure in long-standing
eyelid myoclonia with absences}{title:EEG of seizure in long-standing eyelid
myoclonia with absences}|There typically is a concomitant tonic contraction
of the eyelids, where the eyes often assume a semi-open position, irrespective
of the position of the eyes at the start of seizure. Vertical jerking and upwards
deviation of the eyeballs as well as simultaneous jerks of the eyebrows and
the head frequently occur, as does lateral deviation of the eyes and the head.
Eyelid myoclonia may also be associated with jerks of the hands.|{video:eap3v.avi}{caption:Video-EEG
of seizure in eyelid myoclonia with absences}{label:Video-EEG of a 17-year-old
woman with eyelid myoclonia with absences. Note that hand jerking occurs during
the eyelid myoclonia.}|Rarely, the tonic component of the eyelid semi-opening
and the deviation of the eyes and head may be more predominant than the clonic
components.
Once seen, eyelid myoclonia will not be forgotten. It is distinctly different
from the random or rhythmic eyelid closing or fluttering during the course
of typical absences in other epileptic syndromes (Panayiotopoulos et al
1996a).
Impairment of consciousness (absence). Absence follows the eyelid myoclonia
while the eyelid jerking continues less violently than in the onset. Impairment
of consciousness is usually mild, manifested with cessation, repetition, errors,
and delays of breath counting on video-EEG. Automatisms are not observed.
An interesting symptom is the rare occurrence of a “pleasurable” feeling
during the absence, which may be related to “self-induction” in some patents
Precipitating factors of eyelid myoclonia with absences. The most potent precipitating
factor is eye closure: voluntary, involuntary, or reflex. The majority of the
seizures are induced immediately after closure of the eyes in the presence
of uninterrupted light. Eye closure in total darkness is ineffective. Intermittent
photic stimulation potentates the effect of eye closure and is capable of inducing
seizures when eyes are open or closed. Photosensitivity declines with age,
whereas eye closure is likely to remain a life-long precipitating factor (Giannakodimos
and Panayiotopoulos 1996). However, there are patients in whom eyelid myoclonia
occurs only during photic stimulation.|{video:eap6v.avi}{caption:Video-EEG
and interview of a photosensitive patient not suffering from eyelid myoclonia
with absences}{label:In this Video-EEG and interview of a photosensitive patient
not suffering from eyelid myoclonia with absences, note that eyelid myoclonia
is induced by intermittent photic stimulation. She also has self-induced seizures
by rapid successive movements of the left hand in front of her eyes while watching
television or in the sun. Generalized discharges of spike-and-wave occurred
during hyperventilation with no detectable clinical symptoms.}|
LOCALIZATION
Eyelid myoclonia with absences is a generalized epileptic seizure with generalized
multiple spike-and slow-wave discharges that may be of higher amplitude in the
anterior or posterior regions.
PATHOPHYSIOLOGY
The EEG ictal accompaniments of eyelid myoclonia with absences
are generalized discharges of mainly polyspikes and polyspike-slow
waves at a frequency of 3 to 6 Hz (usually more than 4 Hz) and a
duration of 3 to 6 seconds (typically around 3 seconds and seldom
more than 5 seconds).|{video:EMACP1v.avi}{caption:Video-EEG of eyelid
myoclonia with absences}{label:The patient exhibits eyelid myoclonia
with absences mainly on eye-closure and intermittent photic stimulation.}||{diagram:eap1.bmp}{label:EEG
of seizure in eyelid myoclonia with absences (1)}{title:EEG of seizure in eyelid
myoclonia with absences}||{video:EMACP3v.avi}{caption:Video-EEG of long-standing
eyelid myoclonia with absences}{label:In this Video-EEG of a woman with long-standing
eyelid myoclonia with absences, eyelid myoclonia is consistently induced by
eye closure in a lit room. This is completely abolished when eye closure is
performed in total darkness achieved with underwater goggles covered with opaque
tape.}||{diagram:eap2.bmp}{label:EEG of seizure in long-standing eyelid myoclonia
with absences}{title:EEG of seizure in long-standing eyelid myoclonia with
absences}|Polyspikes are more abundant and are often continuous (uninterrupted
by slow waves) in the first 1 to 2 seconds from onset. Polyspike-and-slow waves
usually follow this multiple-spike opening phase of the discharge. The onset
of the EEG discharge either precedes the eyelid jerks or is simultaneous to
them (Giannakodimos and Panayiotopoulos 1996). However, on some occasions,
fast eyelid movements (with eyes closed) following eye closure may precede
the discharge.|{video:eap4v.avi}{label:Video-EEG of 10-year-old girl with eyelid
myoclonia}{title:Video-EEG of 10-year-old girl with eyelid myoclonia}||{diagram:eap3.bmp}{label:EEG
of habitual seizure of eyelid myoclonia}{title:EEG of habitual seizure of eyelid
myoclonia}||{diagram:eap4.bmp}{label:EEG of photic stimulation-induced eyelid
myoclonia}{title:EEG of photic stimulation-induced eyelid myoclonia}|
The underlying pathogenesis is not known. Eyelid myoclonia with absences
mainly manifests with regional eyelid myoclonia. As opposed to other
photosensitive epilepsies, eye closure is more potent than photic stimulation
as a triggering factor. However, eye closure requires the presence of
light, and is entirely ineffective in darkness (Giannakodimos and Panayiotopoulos
1996; Panayiotopoulos 1998), which may explain why continuous light also
triggers seizures in these patients. Another intriguing feature is that
some patients may manifest with features of photosensitivity and fixation-off
sensitivity, which have opposing characteristics (Panayiotopoulos 1998).
It is possible that in patients with eyelid myoclonia with absences,
there is a malfunctioning of alpha rhythm generators (Panayiotopoulos
et al 1996b) and that both the magnocellular and parvocellular systems
are functionally disturbed (Wilkins 1995).
Eyelid myoclonia (the seizure) may occur in various conditions. Those supporting
eyelid myoclonia with absences as a syndrome argue that this is a genetically
determined homogeneous condition that may be different from most other
idiopathic generalized epilepsy syndromes (Bianchi and Italian League Against
Epilepsy 1995; Parker et al 1996). In a large-scale genetic study of idiopathic
generalized epilepsies, Bianchi and colleagues reported concordance of
the syndrome in families of probands with eyelid myoclonia with absences
(Bianchi and Italian League Against Epilepsy 1995). Parker and colleagues
reported that of 18 patients with eyelid myoclonia with absences, 14 had
a family history of epilepsies (Parker et al 1996). Four patients had other
family members affected by a similar type of epileptic condition.
DIFFERENTIAL DIAGNOSIS
Eyelid myoclonia is often misdiagnosed as facial tics, sometimes
for many years even though the characteristic eyelid myoclonia,
if seen once, will never be forgotten or confused with other conditions
(Panayiotopoulos 1997; Burneo et al 2004; Panayiotopoulos 2005).
Eyelid myoclonia with or without absences is usually the prominent
seizure type of an idiopathic photosensitive epilepsy (Jeavon syndrome)
which is defined as follows (Panayiotopoulos 2005):
Jeavon syndrome (eyelid myoclonia with absences) is an idiopathic
epileptic syndrome manifested with frequent (pyknoleptic) seizures,
consisting of eyelid myoclonia often associated with absences.
Onset is usually in early childhood. The seizures are brief (3
to 6 s) and occur mainly after eye closure. They consist of eyelid
myoclonia, which persists throughout the attack with or without
absences. Absences without eyelid myoclonia do not occur. The eyelid
myoclonia consists of marked, rhythmic, and fast jerks of the eyelids,
often associated with jerky upward deviation of the eyeballs and
retropulsion of the head. There is probably an associated tonic
component of the involved muscles. If the seizure is prolonged,
impairment of consciousness occurs. The latter is mild or moderately
severe without associated automatisms. Milder seizures of eyelid
myoclonia without absences are common, particularly in adults and
treated patients, and may occur without EEG accompaniments. All
patients are highly photosensitive in childhood, but this declines
with age. Infrequent GTCS, either induced by light or spontaneous,
are probably inevitable in the long-term and are likely to occur
after sleep deprivation, fatigue, and alcohol indulgence. Myoclonic
jerks of the limbs may occur but are infrequent and random. The
eyelid myoclonia of Jeavon syndrome is resistant to treatment and
may be life-long. However, clinical absences may become less frequent
with age.
The EEG ictal manifestations consist mainly of generalised polyspike-waves
at 3 Hz to 6 Hz, which are more likely to occur after eye closure
in an illuminated room. Total darkness abolishes the abnormalities
related to eye closure. PPR are recorded from all untreated young
patients.
However, eyelid myoclonia may also occur in symptomatic or idiopathic
generalized epilepsies with absences (Duncan and Panayiotopoulos
1996; Incorpora et al 2002). Nonepileptic paroxysmal eyelid movements
have been recently described in patients with generalized photosensitive
epilepsy (Camfield et al 2004).
Symptomatic or cryptogenic epilepsies. In symptomatic or cryptogenic epilepsies, eyelid myoclonia with absences may
be a predominant seizure type with or without photosensitivity. Diagnostic confusion
between patients with symptomatic or cryptogenic epilepsies who exhibit ictal
eyelid myoclonia, and those suffering from eyelid myoclonia with absences, will
rarely be a problem if the clinical background is considered in detail. Mental
retardation, neurologic signs, and severely abnormal background EEG as found
in patients with symptomatic or cryptogenic epilepsies are incompatible with
an idiopathic syndrome such as eyelid myoclonia with absences. Focal EEG abnormalities
are common in eyelid myoclonia with absences, but when severe or persistent,
they are likely to indicate an underlying structural abnormality. Seizures in
this syndrome are brief and stereotyped; occasional independent myoclonic jerks
of the limbs or body and GTCS are the only other seizure types that occur (Giannakodimos
and Panayiotopoulos 1996). In cryptogenic or symptomatic cases, eyelid myoclonia
may be an inconstant ictal feature and may be associated with seizures both
of variable duration and of different types, such as atypical absences and tonic,
atonic, or partial seizures. Activation of seizures by eye closure in symptomatic
or cryptogenic cases may be more rare than eyelid myoclonia with absences (Ferrie
et al 1994; 1996).
Idiopathic generalized epilepsies with absences. In
idiopathic generalized epilepsies with absences, eyelid myoclonia should
be differentiated from other eyelid manifestations that may occur during the
absence. In particular, Panayiotopoulos and colleagues studied 90 patients
with idiopathic generalized epilepsy, along with 536 video-EEG recordings of
typical absences (greater than 2.5 to 3 Hz spike- or polyspike-and-slow waves
with clinical manifestations) (Panayiotopoulos et al 1996a). All patients had
typical absences either alone, with myoclonic jerks, GTCS, or both. Syndromes
included: childhood absence epilepsy, juvenile absence epilepsy, myoclonic
absence epilepsy, perioral myoclonia with absences, phantom absences with GTCS,
absences with single myoclonic jerks, and other unclassified syndromes of idiopathic
generalized epilepsy with typical absences (Panayiotopoulos 1997; 2005). Thirty
nine (43.3%) of the 90 patients had eyelid or eye-related ictal clinical manifestations.
Only the most prominent eyelid manifestations were considered. They
were classified as consistent if they occurred in every absence of the
same patient. An inconsistent classification was given if they were present
in some but not all of the absences. Symptoms often overlapped in the
same patient and even for the same seizure. It was found that:
- Eyelid myoclonia consistently occurred in five patients.
- Eyelid fluttering consistently occurred in four patients and
was inconsistent in another four patients.
- Random or repetitive eyelid blinks, similar to spontaneous normal
eyelid blinking, consistently occurred in six patients. Another 14
had inconsistent eyelid blinking during the absence ictus.
- Predominantly rhythmic and vertical eyebrow oscillations were
observed in five patients.
- One patient had vertical nystagmus.
Thus, 39 out of the 90 patients had ictal manifestations from the eyelids
and eyes, but in only five of them (5.6%) were the ictal manifestations
similar to those occurring in the syndrome of eyelid myoclonia with absences.|{diagram:eap5.bmp}{caption:EEG
of eyelid myoclonia with absences but without photosensitivity}{label:Eyelid
myoclonia and the impairment of cognition during discharge is followed
with eyelid tremor-like movements and disturbance of consciousness despite
the apparent cessation of the discharge. The arrows indicate the duration
of the clinical seizure. The patient was counting (numbers are annotated
at top).}|Only one of those five patients was photosensitive, and only
one experienced absences provoked by eye closure.
Conversely, 20 patients (22.2 %) had clinical or video-EEG-documented
photosensitivity, but only 5 of them had eyelid and eye-related ictal
clinical manifestations during the absences. Two patients had random
eyelid blinking, which is strikingly different from the eyelid myoclonia.
Two patients had fast rhythmic eyelid fluttering. One patient had eyelid
myoclonia with absences-like manifestations.
Eye closures and eyelid myoclonia-like attempts for self-induction in photosensitive epilepsy. Eyelid
myoclonia with absences, often occurring after eye closure in the presence
of light and often exaggerated by intermittent photic stimulation, should not
be considered as a self-induced maneuver (Panayiotopoulos et al 1996b). The
EEG ictal discharge precedes or coincides with the eyelid myoclonia. These
patients do not need to produce conditions of intermittent photic stimulation
for self-induction. Simply closing the eyes would be more potent.
However, self-induced photosensitive epilepsy is well known and well
documented. These patients need to produce intermittent photic stimulation
in order to deliberately self-induce seizures. (Binnie 1996; Panayiotopoulos
et al 1996b; Panayiotopoulos 1999). They do this by using various maneuvers
such as waving their hands in front of their eyes or with repetitive
eye-closures while looking at the sun or a bright light source. The latter
may sometimes imitate eyelid myoclonia.
A clinical vignette from one patient shows the difficulty in differentiating
genuine seizures of eyelid myoclonia from self-induced eyelid myoclonia.
This 10-year-old girl had onset of frequent daily seizures at 4 years
of age. The seizures averaged 3 to 5 seconds. They consisted of marked
eyelid myoclonia and the tonic upward deviation of her eyes accompanied
by, at most, a mild impairment of consciousness. In more severe attacks,
there was retropulsive jerk of the head, shoulders, and sometimes limbs.
These occasionally would lead to falls. The vast majority of the seizures
were light-induced with sudden increases in background illumination,
especially when going into bright sunlight. Watching television and playing
video-games were less powerful stimuli. Occasional independent myoclonic
jerks of her limbs were described. Typical absences unaccompanied by
eyelid phenomena did not occur. She did not have GTCS (Parker et al 1996).
One of her habitual daily seizures was captured on video-EEG.|{video:eap4v.avi}{label:Video-EEG
of 10-year-old girl with eyelid myoclonia}{title:Video-EEG of 10-year-old
girl with eyelid myoclonia}|On slow motion study, closing of the eyes
is followed within half a second by 3 fast eyelid movements while the
eyes remain closed. Opening of the eyes coincides with the first spike
of the generalized discharge. During some of the seizures, there is also
myoclonic jerking of limbs.
The opening and closing of the eyes is an ictal event as it starts together
with the spike and wave. It is important to note the manifestations of
the first half second without EEG abnormalities. Similar clinical events
also occurred during intermittent photic stimulation immediately preceding
the generalized discharges when closing the eyes on command.|{diagram:eap4.bmp}{label:EEG
of photic stimulation-induced eyelid myoclonia}{title:EEG of photic stimulation-induced
eyelid myoclonia}|It seems that these are also ictal events induced by
eye closure and light. However, one cannot completely deny the possibility
of a light-dependent tick that may generate a seizure (Kent et al 1998).
Certainly, these are not deliberate attempts for self-induction.
In view of reports implicating slow eye closure in self-induction (Darby
et al 1980; Binnie 1996), Panayiotopoulos and colleagues extensively
interviewed and studied video-EEG of 17 adult patients with eyelid myoclonia
with absences (Panayiotopoulos et al 1996b). None of 15 patients admitted
were suspected of self-induced seizures. On the contrary, they considered
eyelid myoclonia as a socially embarrassing condition. They were relieved
when the seizures improved with medication, and they showed excellent
compliance. Although other types of seizures were controlled in most
patients, the eyelid myoclonia continued, but was less severe and frequent
than before appropriate treatment began. This is contrary to self-induction,
in which eyelid myoclonia should be more forceful after treatment if
its purpose was to induce seizures. Furthermore, the authors considered
it unlikely that self-induction would be attempted in social situations,
such as the patients' weddings. “The eyes flicker is a reflex to the
light,” explained one of their patients. "I will be looking over
there, and the sunshine will be coming through on that side. And my head,
without me even knowing, it automatically turns. You cannot stop it.
And it goes like this, and your head has an automatic reaction to go
back to the sunlight and start flickering the eyes, and you try to pull
yourself away…" This description may be arbitrarily taken as indirect
evidence of self-induction despite strong denial as such by the patients.
However, this is similar to the well known phenomenon of the “attraction
movement” when light is presented and other manifestations of the optic
fixation reflexes when volitional movements of the eyes are unattainable
or weak (Walsh 1957).
Two patients were suspected of self-induction. One of them had frequent
slow eye-closure EEG abnormalities, but she never admitted self-induction.
She insisted “I do not know when I am doing it…It gives me no pleasure,
and it is a social embarrassment.” The other patient admitted in a video
recorded interview that she occasionally does it voluntarily: "Yes,
I can do it on purpose like that (she imitates rapid eyelid blinking
with upwards deviation of the eyes). But that is because there are times
that my eyes start to want to go and do it, and I know they want to do
it because they are strained and sore and they will sting, and so if
I just do it, it relaxes them…that is a rare occasion. But other than
that, I do not know. It just goes on. There have been incidences I have
walked into a pole, or into a car. I did not do that on purpose."|{video:EMACP5v.avi}{caption:Video-EEG
of a photosensitive patient not suffering from eyelid myoclonia with
absences}{label:This photosensitive patient is not suffering from the
syndrome of eyelid myoclonia with absences. She has self-induced seizures
by rapid successive eye closures as she admits and imitates in the video.}|
Kent and colleagues reported that five of the six patients with eyelid
myoclonia with absences demonstrated various compulsive or tic-like symptoms,
including premonitory sensations, compulsive urges, and a sense of relief
associated with the absence attacks. Separate facial tics not associated
with absences were also evident in at least two children. They stressed
that "the argument that self-induction does not occur in eyelid myoclonia
with absences assumes its deliberate nature, which may not necessarily
be the case for a proportion of these children. Compulsive “self-induction” may
be similar to the phenomenology described in Tourette syndrome, where individuals
experience motor and vocal tics and obsessive compulsive symptoms. The
relationship between this argument and EEG findings in eyelid myoclonia
with absences would presume that the initial eye ball roll/eye closure
and eye blinking (seen in Tourette syndrome) are tic-like symptoms, which
cause the absences and discharges of eyelid myoclonia with absences in
those who are photosensitive. In this model, the self-induction of discharges
in an individual may or may not be deliberate, or might even go unnoticed
by the patient. The beneficial response of some so-called “self-inducers” to
the proconvulsive dopamine antagonists (commonly prescribed for Tourette
syndrome) lends further support to this argument" (Kent et al 1998).
Forced eyelid closures and eyelid fluttering in occipital seizures.
Forced eyelid closure and eyelid blinking is also an ictal clinical symptom
in partial seizures described both in symptomatic and idiopathic occipital
epilepsy. It may be an early ictal sign and has a forced quality that may be
distinguished from the more casual blinking associated with many other partial
seizures. It usually occurs after the phase of visual hallucinations, at a
stage in which consciousness is impaired, and heralds the impending secondarily
generalized convulsions (Panayiotopoulos 1999). However, it may also occur
alone, inconspicuous in appearance and not suspected as a seizure event, documented
only with video-EEG recordings in occipital photosensitive patients (Panayiotopoulos
1999).
Paroxysmal eyelid movements are a confusing feature of generalized photosensitive
epilepsy. Recently Camfield and colleagues (Camfield et al 2004) reported
persistent, frequent, nonepileptic paroxysmal eyelid movements in 19
children and adults with well controlled generalized photosensitive epilepsy.
Seventeen patients were female and 2 male. In 2 children, paroxysmal
eyelid movements began 2 to 4 years before their epilepsy was noted.
In the remainder, it was noted when epilepsy was first diagnosed. Age
at last follow-up was 8 to 38 years (average 21 years) with an average
follow-up of 9 years. All patients showed photosensitive generalized
spike-wave discharges on EEG. Paroxysmal eyelid movements were a source
of diagnostic confusion, but direct examination and video during EEG
recording distinguished the attacks from absence seizures. In all cases,
epileptic seizures were completely or nearly completely controlled with
AEDs, but the paroxysmal eyelid movements did not resolve with age. In
12 cases, there was a family history of the eyelid disorder without epilepsy.
Eyelid manifestations in normal people. With the possible
exception of the violent myoclonic jerks of eyelid myoclonia, all other
eyelid symptoms during absence seizures are manifested by normal people
in their every day life. The eyes and the eyelids are the most sensitive
and expressive parts of our body. There is considerable literature on the subject
and its neuropathy (Hall 1945; Bour et al 2000).
From a small sample of people appearing in televised interviews, round
table discussions, and debates, Panayiotopoulos and colleagues reached
the following conclusions (Panayiotopoulos et al 1996a):
- When under tension, the rate of the spontaneous blinks increases
significantly. In some people this may become repetitive in clusters
of 3 to 5 per second, showing close similarities to that described
in self-induced photosensitive epilepsy. This type of repetitive blinking
was apparent either at the beginning of the utterance (like a breath
before starting a sentence) or at the end (like a relief). It was
particularly apparent when talking on sensitive matters and was not
observed when the same people were not participating in the discussion.
These eyelid manifestations are like tics. Other normal subjects may
close their eyelids partially, with brief transient fluttering.
- Slow and sustained eye-closure was rarely manifested. It was
observed mainly in women who were discussing their distress, anger,
or frustrations.
- Less frequently, eyes were widely opened with a cessation of
spontaneous blinks.
What the eyelids do could not be simpler: they
open and close. However, this limited repertoire belies the complexity
of the behavioral requirements of the eyelids. They must protect
the eyes and especially the cornea…or an efficient compromise between
and unobstructed vision the eyelids must change position in synchrony
with vertical eye movements…Eyelid position is modulated by autonomic
functions regulating, for example, arousal…They are intimately
concerned with facial expression…Thus, we have a simple movement
that is under voluntary, automatic, reflex, emotional, and autonomic
control (Plant 1996). |
DIAGNOSTIC WORKUP
The video-EEG is the single most important procedure for diagnosis of
eyelid myoclonia with absences. The EEG is dominated with high amplitude
discharges of spike-and-slow waves at 3 to 6 Hz. These are brief (1 to
5 seconds) and are commonly associated with clinical manifestations of
eyelid myoclonia of varying severity. They occasionally appear simultaneous
with any impairment of cognition. They often occur immediately (within
0.5 to 2 seconds) after closing the eyes in an illuminated recording
room. They are eliminated in total darkness. Photoparoxysmal responses
are recorded from all untreated young patients and may be absent in older
patients on medication. Photosensitivity and fixation-off sensitivity
may occur together (Panayiotopoulos 1998). A normal EEG is rare, even
in well-controlled patients. EEG discharges are also enhanced by hyperventilation.
Sleep EEG patterns are normal. Generalized discharges of polyspikes-and-slow
waves are more likely to increase during sleep, but a reduction is occasionally
observed. The discharges are shorter and devoid of discernible clinical
manifestations of any type, even in those patients who have numerous
seizures during the alert state.
EEG and clinical manifestations deteriorate consistently after awakening.
SYNDROMES AND DISEASES IN WHICH THE SEIZURE TYPE OCCURS
Eyelid myoclonia with absences is usually the prominent seizure type of an idiopathic
generalized epilepsy condition that has not been accepted in the ILAE's current
designation of a syndrome (Engel 2001). However, it may also occur in symptomatic
or cryptogenic epilepsies as a predominant seizure type, with or without photosensitivity.
Eyelid myoclonia may also occur in other idiopathic generalized epilepsies with
absences.
Eyelid and other ictal manifestations may cluster together in an idiopathic generalized epilepsy. The
following conclusions are based on long video-EEG studies and extensive
reviews of 17 adults and 3 children with eyelid myoclonia with absences (Ferrie
et al 1996;Giannakodimos and Panayiotopoulos 1996; Panayiotopoulos et al 1996a,
1996b; Parker et al 1996; Panayiotopoulos 2005):
- Eyelid myoclonia with absences is the most typical type of seizures
with this syndrome.
- Eyelid myoclonia is often associated with jerks of the eyeballs,
head, or other muscles, and may terminate without discernible absence.
This is the most common type of seizure in this syndrome. This may
be the only seizure type for treated patients. These seizures are brief,
usually lasting for 1 to 2 seconds. The ictal EEG manifestations
are mainly polyspike discharges of brief duration (1 to 2 seconds,
or rarely 3 to 5 seconds).
- Milder ictal eyelid manifestations consist of either abortive
eyelid myoclonia with eyelid tremor-like jerks or fast eyelid fluttering.
The eyes remain closed while the upper eyelids exhibit small range,
fast fluttering that would be difficult to appreciate without close-up
video-EEG recordings. They are brief seizures, usually lasting for
less than 1 second or, sometimes, 1 to 3 seconds. These may be seen
together with the more severe types of eyelid myoclonia with or without
absences. However, they can also be the only type of seizures, particularly
in patients on the appropriate medication. They are associated with
polyspikes in the ictal EEG.
Slow eye-closure may occur, but the EEG
discharges of mainly polyspikes are usually apparent before the termination
of the eye-closure artifact, indicating that the tonic component of
the eye-closure was an ictal phenomenon. We have never observed the
repetitive eye blink-like movements of self-induced photosensitive
epilepsy in ictal absences of eyelid myoclonia with absences. Absences
never occurred without some form of eyelid myoclonia preceding their
onset.
- Absence status epilepticus with eyelid myoclonia. Continuous
clusters of prolonged seizures of eyelid myoclonia with absences may
occur as the result of accumulating precipitating factors, discontinuation,
or inappropriate treatment. It is more likely to occur on awakening.
(Smith 1996; Agathonikou et al 1998; Wakamoto et al 1999; Baykan et
al 2002; Panayiotopoulos 2005).
Eyelid ictal manifestations in typical absence seizures of other idiopathic generalized epilepsies. Eyelid
myoclonia can only rarely be seen in typical absence seizures of idiopathic
generalized epilepsies. In a study of 60 patients with video-EEG recorded absence
seizures, only 5 had eyelid myoclonia. Of these 5 patients, only 1 was also
photosensitive, and only 1 experienced seizures precipitated by eye-closure
(Panayiotopoulos et al 1996a).
Some patients may have eyelid myoclonia with absences without photosensitivity.|{diagram:eap5.bmp}{caption:EEG
of eyelid myoclonia with absences but without photosensitivity}{label:Eyelid
myoclonia and the impairment of cognition during discharge is followed
with eyelid tremor-like movements and disturbance of consciousness despite
the apparent cessation of the discharge. The duration of the clinical
seizure is indicated by the arrows. The patient was counting (numbers
are annotated at top).}|Also rarely, eyelid myoclonia with or without
absences may occur in the same child, along with typical absence seizures
without eyelid myoclonia (Ferrie et al 1996).|{diagram:eap6.bmp}{caption:EEG
of eyelid myoclonia and absences together or independently.}{label:This
EEG is from a normal 9-year-old girl with onset of seizures at 6 years
of age. These consisted of episodes lasting up to 45 seconds of psychomotor
arrest, accompanied by head slumping either to the right or left. Video-EEG
showed characteristic eye-closure-related abnormalities accompanied by
prominent eyelid myoclonia. She also had typical absences, both preceded
by and independently of seizures with eyelid myoclonia.}|
Eyelid myoclonia with absences in cryptogenic or symptomatic
generalized epilepsies. Eyelid phenomena are commonly seen
during nonconvulsive seizures in children with cryptogenic and symptomatic
generalized epilepsies. These include eyelid blinking and flutter.
True eyelid myoclonia is less common (Ferrie et al 1996; Panayiotopoulos
1998).
PROGNOSIS AND COMPLICATIONS
Eyelid myoclonia is highly resistant to treatment, occurring many
times per day, often without apparent absences, and even without demonstrable
photosensitivity. Generalized tonic-clonic seizures and absence status
may be unavoidable in adult life, either as the result of accumulating
precipitating factors, or more often, due to inappropriate medication
(Panayiotopoulos 2005).
MANAGEMENT
Life-long treatment with medication may be necessary for patients with
eyelid myoclonia with absences. In the absence of controlled therapeutic
trials, it is not possible to draw scientifically-valued conclusions
about the most effective approach to the drug treatment of eyelid myoclonia
with absences. Based on anecdotal evidence, the drugs of choice are those
also used for other idiopathic generalized epilepsies with absences and
myoclonias (Panayiotopoulos 2001; 2005). Historically, a combination
of sodium valproate and ethosuximide has been considered to be the most
effective regimen. However, clonazepam, which is highly effective in
myoclonic jerks, may be a valid option. Small doses of lamotrigine added
to sodium valproate may result in dramatic improvement because of their
possible pharmacodynamic interaction (Ferrie et al 1995). Lamotrigine
alone may exaggerate myoclonic jerks. Levetiracetam may be the most effective
because of its antimyoclonic and antiphotosensitive properties (Panayiotopoulos
2005).
Carbamazepine, oxcarbazepine, vigabatrin, tiagabine, gabapentin and
probably pregabalin are contraindicated, and the same may be true for
phenytoin (Panayiotopoulos 2001; 2005).
Nonpharmacological treatments in photosensitive patients as detailed
by Wilkins may have a beneficial effect and should be employed (Wilkins
1995). Self-induced seizures might be modifiable by psychiatric intervention
or behavioral modification.
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ILAE
ILAE Copyright Notice
ABBREVIATIONS
MRI: magnetic resonance imaging
GTCS :Generalized tonic clonic seizures
SYNONYMS
Jeavons syndrome
MAJOR KEYWORD DESCRIPTORS
absences
alpha rhythm generators
eye closure
eyelid myoclonia
eyelids
idiopathic generalized epilepsies
intermittent photic stimulation
jerks of eyeballs, eyebrows, head, hands
myoclonic jerks of eyelids
photosensitivity
self-induction
spike-and-slow waves
tonic-clonic seizures
uninterrupted light
video-EEG studies
MINOR KEYWORD DESCRIPTORS
epilepsy
hyperventilation
seizures
AGE OF PRESENTATION
02-05 years
06-12 years
13-18 years
AGE OF TYPICAL PRESENTATION
06-12 years
13-18 years
GLOSSARY - ILLUSTRATION CAPTIONS
Video-clip 1. Three video-EEG seizures of the same patient are presented. The first is during hyperventilation with onset when the eyes were closed. The ictal discharge starts before the eyelid myoclonia. The second seizure is elicited by eye closure, and that last by intermittent photic stimulation.
Video clip 2. Video EEG of a woman with long-standing eyelid myoclonia with absences. Eyelid myoclonia is consistently induced by eye closure in a lit room, but this is completely abolished when eye closure is performed in total darkness (achieved with underwater goggles covered with opaque tape).
Video clip 3. Video EEG of a 17-year-old lady with eyelid myoclonia with absences. Note that hand jerking occurs during the eyelid myoclonia.
Video clip 4. Video EEG of a 10-year-old normal girl with onset of frequent daily seizures at age of 4 years (Parker et al 1996). Seizures lasted 3 to 5 seconds. They consisted of marked eyelid myoclonia and tonic upward deviation of the eyes accompanied by, at most, a mild impairment of consciousness. In more severe attacks, there was retropulsive jerk of head, shoulders, and sometimes limbs--occasionally leading to falls. Typical absences unaccompanied by eyelid phenomena have not occurred. She did not have GTCS.
Video clip 5. From an interview with a patient with eyelid myoclonia with absences explaining the pleasurable feelings of the eyelid myoclonia seizure. Self-induction was suspected, but she firmly denied it, despite good rapport and a long follow up with us.
Video clip 6. Video EEG and interview with a photosensitive patient not suffering of the syndrome of eyelid myoclonia with absences. Note that eyelid myoclonia is induced by intermittent photic stimulation. She also has self-induced seizures by rapid successive movements of the left hand in front of her eyes (which she illustrates) while watching television or in the sun. Generalized discharges of spike and wave occurred during hyperventilation with no detectable clinical symptoms.
Video clip 7. Video EEG and interview with a photosensitive patient not suffering of the syndrome of eyelid myoclonia with absences. She also has self-induced seizures by rapid successive eye closures looking at the sun as she admits and imitates on video.
Figure 1. EEG during a seizure from video clip 1.
Figure 2. EEG during a seizure from video clip 2.
Figure 3. EEG during a habitual seizure from video clip 4.
Figure 4. EEG during an intermittent photic stimulation-induced seizure from video clip 4.
Figure 5. From video-EEG of a 10 years old normal girl with eyelid myoclonia with absences. She is not clinically or EEG photosensitive. Thirteen out of 23 eye-closures were followed by generalized discharges that were clinically manifested with eyelid myoclonia, upward tonic or clonic deviation of the eyeballs and occasionally by a single backward jerk of the head. Mild impairment of cognition was always a feature and was manifested with errors in counting. The discharges were totally inhibited in darkness. In this figure, eyelid myoclonia and impairment of cognition during the discharge is followed with eyelid tremor-like movements and disturbance of consciousness despite the apparent cessation of the discharge.
The duration of the clinical seizure is indicated with the arrows. Patient was counting (annotated numbers).
Figure 6. From video EEG of a normal 9-year-old girl with eyelid myoclonia and absences together or independently from age 6 years. Seizures, lasting up to 45 seconds, consisted of psychomotor arrest, accompanied by head slumping to the right or left. She was photosensitive. Video-EEG showed characteristic eye-closure related abnormalities accompanied by prominent eyelid myoclonia. In addition, she had typical absences, both preceded by and independently of seizures with eyelid myoclonia.
PERMUTED TOPIC, SYNONYMS, VARIANTS
Eyelid myoclonia with and without absences
myoclonia with and without absences, Eyelid
with and without absences, Eyelid myoclonia
without absences, Eyelid myoclonia with and
absences, Eyelid myoclonia with and without
Jeavons syndrome
RELATED TOPICS
Absence status epilepticus
Epilepsy
Eyelid myoclonia with absences
Myoclonic absences
Other visual-sensitive epilepsies
DIFFERENTIAL DIAGNOSIS
symptomatic generalized epilepsy
idiopathic generalized epilepsy with absences
cryptogenic generalized epilepsy
atypical absences
tonic seizures
atonic seizures
partial seizures
random eyelid blinking
self-induced photosensitive epilepsy
self-induced eyelid myoclonia
attraction movement
tics
obsessive-compulsive symptoms
forced eyelid closures
eyelid fluttering
symptomatic occipital epilepsy
idiopathic occipital epilepsy
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