Jeavons Syndrome
Encyclopedia
Jeavons Syndrome is a type of epilepsy
. It is one of the most distinctive reflex syndromes of idiopathic generalized epilepsy
characterized by the triad of eyelid
myoclonia with and without absences, eye-closure-induced seizures, EEG paroxysms, or both, and photosensitivity
. Eyelid myoclonia with or without absences
is a form of epileptic seizure manifesting with myoclonic jerks of the eyelids with or without a brief absence. These are mainly precipitated by closing of the eyes and lights. Eyelid myoclonia is the defining seizure type
of Jeavons syndrome.
with a peak at age 6–8 years (range 2–14 years). There is a twofold preponderance of girls. Prevalence and incidence is probably low.
Eyelid myoclonia consists of marked jerking of the eyelids often associated with jerky upwards deviation of the eyeballs and retropulsion of the head (eyelid myoclonia without absences). This may be associated with or followed by mild impairment of consciousness
(eyelid myoclonia with absences). The seizures are brief (3–6 s), and occur mainly and immediately after closing of the eyes (eye closure) and consistently many times a day. All patients are photosensitive.
Generalised tonic-clonic seizure
s, either induced by lights or spontaneous, are probably inevitable in the long term and are provoked particularly by precipitating factors (sleep deprivation
, alcohol
) and inappropriate AED modifications.
Myoclonic jerks of the limb
s may occur, but are infrequent and random.
Eyelid myoclonic status epilepticus
, either spontaneous (mainly on awakening) or photically induced, occurs in a fifth of patients. It consists of repetitive and discontinuous episodes of eyelid myoclonia with mild absence, rather than continuous non- convulsive absence status epilepticus.
. Most and, in some patients, all of the seizures are induced immediately after closure of the eyes in the presence of uninterrupted (non-flickering) light. Eye closure in total darkness is ineffective.
Contrary to other forms of photosensitive epilepsies
that are sensitive only to flickering lights, patients with Jeavons syndrome are also sensitive to bright, non-flickering lights. This is probably due to the enhancing effect of bright light on the sensitivity of eye closure.
are normal. 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 generalized discharges of mainly polyspikes and waves. These are brief (1–6 s, commonly 2 or 3 s) and they are typically related to eye closure, i.e. they occur immediately (within 0.5–2 s) after closing the eyes in an illuminated recording room.
Eyelid myoclonia of varying severity often occurs during these EEG discharges. Photoparoxysmal discharges induced by photic stimulation occur in all untreated young patients, but may be absent in older patients or those on medication.
Sleep
EEG patterns are normal and generalized discharges are more likely to increase during sleep, but may also decrease. The EEG and clinical manifestations deteriorate consistently after awakening. A normal EEG is rare, even in well-controlled patients.
s, sometimes for many years.
The symptom/seizure of eyelid myoclonia alone is not sufficient to characterise Jeavons syndrome, as it may also occur in symptomatic and cryptogenic epilepsies
, which are betrayed by developmental delay, learning difficulties, neurological deficits, and abnormal MRI and background EEG.
than women. There is a tendency for 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.
, the drugs of choice are those used for other idiopathic generalized epilepsies. Valproate alone, or most probably in combination with clonazepam
, levetiracetam, lamotrigine
or ethosuximide
, appears to be the most effective regimen. The choice of the second drug depends on the main seizure type. Clonazepam is highly efficacious in eyelid myoclonia and myoclonic jerks. Of the newer antiepileptic drugs, 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.
Contra-indicated drugs are: Carbamazepine
, gabapentin
, oxcarbazepine
, phenytoin
, pregabalin
, tiagabine
and vigabatrin
.
Lifestyle and avoidance of seizure precipitants are important. Non-pharmacological treatments used for photosensitive patients (such as wearing special glasses or the newly commercially available blue Z1 lenses) should be employed in Jeavons syndrome when photosensitivity persists.
Epilepsy
Epilepsy is a common chronic neurological disorder characterized by seizures. These seizures are transient signs and/or symptoms of abnormal, excessive or hypersynchronous neuronal activity in the brain.About 50 million people worldwide have epilepsy, and nearly two out of every three new cases...
. It is one of the most distinctive reflex syndromes of idiopathic generalized epilepsy
Idiopathic generalized epilepsy
Idiopathic generalized epilepsy is a group of epileptic disorders that are believed to have a strong underlying genetic basis. Patients with an IGE subtype are typically otherwise normal and have no anatomical brain abnormalities. Patients also often have a family history of epilepsy and seem to...
characterized by the triad of eyelid
Eyelid
An eyelid is a thin fold of skin that covers and protects an eye. With the exception of the prepuce and the labia minora, it has the thinnest skin of the whole body. The levator palpebrae superioris muscle retracts the eyelid to "open" the eye. This can be either voluntarily or involuntarily...
myoclonia with and without absences, eye-closure-induced seizures, EEG paroxysms, or both, and photosensitivity
Photosensitivity
Photosensitivity is the amount to which an object reacts upon receiving photons, especially visible light.- Human medicine :Sensitivity of the skin to a light source can take various forms. People with particular skin types are more sensitive to sunburn...
. Eyelid myoclonia with or without absences
Absence seizure
Absence seizures are one of several kinds of seizures. These seizures are sometimes referred to as petit mal seizures ....
is a form of epileptic seizure manifesting with myoclonic jerks of the eyelids with or without a brief absence. These are mainly precipitated by closing of the eyes and lights. Eyelid myoclonia is the defining seizure type
Seizure types
The numerous epileptic seizure types are most commonly defined and grouped according to the scheme proposed by the International League Against Epilepsy in 1981...
of Jeavons syndrome.
Classification
The International League against Epilepsy has not yet recognized Jeavons syndrome despite overwhelming evidence of its existence. Instead, only ‘eyelid myoclonia’ has been accepted as an “absence seizure with special features”.Demographic data
Onset is typically in childhoodChildhood
Childhood is the age span ranging from birth to adolescence. In developmental psychology, childhood is divided up into the developmental stages of toddlerhood , early childhood , middle childhood , and adolescence .- Age ranges of childhood :The term childhood is non-specific and can imply a...
with a peak at age 6–8 years (range 2–14 years). There is a twofold preponderance of girls. Prevalence and incidence is probably low.
Clinical manifestations
Eyelid myoclonia, not the absences, is the hallmark of Jeavons syndrome.Eyelid myoclonia consists of marked jerking of the eyelids often associated with jerky upwards deviation of the eyeballs and retropulsion of the head (eyelid myoclonia without absences). This may be associated with or followed by mild impairment of consciousness
Consciousness
Consciousness is a term that refers to the relationship between the mind and the world with which it interacts. It has been defined as: subjectivity, awareness, the ability to experience or to feel, wakefulness, having a sense of selfhood, and the executive control system of the mind...
(eyelid myoclonia with absences). The seizures are brief (3–6 s), and occur mainly and immediately after closing of the eyes (eye closure) and consistently many times a day. All patients are photosensitive.
Generalised tonic-clonic seizure
Tonic-clonic seizure
Tonic–clonic seizures are a type of generalized seizure that affects the entire brain...
s, either induced by lights or spontaneous, are probably inevitable in the long term and are provoked particularly by precipitating factors (sleep deprivation
Sleep deprivation
Sleep deprivation is the condition of not having enough sleep; it can be either chronic or acute. A chronic sleep-restricted state can cause fatigue, daytime sleepiness, clumsiness and weight loss or weight gain. It adversely affects the brain and cognitive function. Few studies have compared the...
, alcohol
Alcohol
In chemistry, an alcohol is an organic compound in which the hydroxy functional group is bound to a carbon atom. In particular, this carbon center should be saturated, having single bonds to three other atoms....
) and inappropriate AED modifications.
Myoclonic jerks of the limb
Limb (anatomy)
A limb is a jointed, or prehensile , appendage of the human or other animal body....
s may occur, but are infrequent and random.
Eyelid myoclonic status epilepticus
Status epilepticus
Status epilepticus is a life-threatening condition in which the brain is in a state of persistent seizure. Definitions vary, but traditionally it is defined as one continuous unremitting seizure lasting longer than 5 minutes, or recurrent seizures without regaining consciousness between seizures...
, either spontaneous (mainly on awakening) or photically induced, occurs in a fifth of patients. It consists of repetitive and discontinuous episodes of eyelid myoclonia with mild absence, rather than continuous non- convulsive absence status epilepticus.
Precipitating factors
The most potent precipitating factor is eye closure, whether voluntary, involuntary or reflexReflex
A reflex action, also known as a reflex, is an involuntary and nearly instantaneous movement in response to a stimulus. A true reflex is a behavior which is mediated via the reflex arc; this does not apply to casual uses of the term 'reflex'.-See also:...
. Most and, in some patients, all of the seizures are induced immediately after closure of the eyes in the presence of uninterrupted (non-flickering) light. Eye closure in total darkness is ineffective.
Contrary to other forms of photosensitive epilepsies
Photosensitive epilepsy
Photosensitive epilepsy is a form of epilepsy in which seizures are triggered by visual stimuli that form patterns in time or space, such as flashing lights, bold, regular patterns, or regular moving patterns.-Symptoms:...
that are sensitive only to flickering lights, patients with Jeavons syndrome are also sensitive to bright, non-flickering lights. This is probably due to the enhancing effect of bright light on the sensitivity of eye closure.
Self-induction in Jeavons syndrome
Self-induced seizures in Jeavons syndrome are rare. Eyelid myoclonia is a seizure and not an attempt for self-induced seizures. These patients do not need to produce conditions of intermittent photic stimulation for self-induction. Simply closing the eyes would be more potent.Aetiology
Jeavons syndrome is a genetically determined homogeneous syndrome, with a high prevalence of similar seizures in family members.Diagnostic procedures
All tests apart from the EEGEEG
EEG commonly refers to electroencephalography, a measurement of the electrical activity of the brain.EEG may also refer to:* Emperor Entertainment Group, a Hong Kong-based entertainment company...
are normal. 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 generalized discharges of mainly polyspikes and waves. These are brief (1–6 s, commonly 2 or 3 s) and they are typically related to eye closure, i.e. they occur immediately (within 0.5–2 s) after closing the eyes in an illuminated recording room.
Eyelid myoclonia of varying severity often occurs during these EEG discharges. Photoparoxysmal discharges induced by photic stimulation occur in all untreated young patients, but may be absent in older patients or those on medication.
Sleep
Sleep
Sleep is a naturally recurring state characterized by reduced or absent consciousness, relatively suspended sensory activity, and inactivity of nearly all voluntary muscles. It is distinguished from quiet wakefulness by a decreased ability to react to stimuli, and is more easily reversible than...
EEG patterns are normal and generalized discharges are more likely to increase during sleep, but may also decrease. The EEG and clinical manifestations deteriorate consistently after awakening. A normal EEG is rare, even in well-controlled patients.
Differential diagnosis
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. Nevertheless, eyelid myoclonia is often misdiagnosed as facial ticTic
A tic is a sudden, repetitive, nonrhythmic, stereotyped motor movement or vocalization involving discrete muscle groups. Tics can be invisible to the observer, such as abdominal tensing or toe crunching. Common motor and phonic tics are, respectively, eye blinking and throat clearing...
s, sometimes for many years.
The symptom/seizure of eyelid myoclonia alone is not sufficient to characterise Jeavons syndrome, as it may also occur in symptomatic and cryptogenic epilepsies
Cryptogenic disease
A cryptogenic disease is a disease of which the cause is unknown. It may be used in a particular case, when the nature of the patient's condition is known but the cause has not been found . The word cryptogenic also appears in the names of some disease entities, when the situation is sufficiently...
, which are betrayed by developmental delay, learning difficulties, neurological deficits, and abnormal MRI and background EEG.
Prognosis
Jeavons syndrome is a lifelong disorder, even if seizures are well controlled with antiepileptic drugs. Men have a better prognosisPrognosis
Prognosis is a medical term to describe the likely outcome of an illness.When applied to large statistical populations, prognostic estimates can be very accurate: for example the statement "45% of patients with severe septic shock will die within 28 days" can be made with some confidence, because...
than women. There is a tendency for 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.
Management
Based on anecdotal evidenceAnecdotal evidence
The expression anecdotal evidence refers to evidence from anecdotes. Because of the small sample, there is a larger chance that it may be true but unreliable due to cherry-picked or otherwise unrepresentative of typical cases....
, the drugs of choice are those used for other idiopathic generalized epilepsies. Valproate alone, or most probably in combination with clonazepam
Clonazepam
Clonazepamis a benzodiazepine drug having anxiolytic, anticonvulsant, muscle relaxant, and hypnotic properties. It is marketed by Roche under the trade name Klonopin in the United States and Rivotril in Australia, Brazil, Canada and Europe...
, levetiracetam, lamotrigine
Lamotrigine
Lamotrigine, marketed in the US and most of Europe as Lamictal by GlaxoSmithKline, is an anticonvulsant drug used in the treatment of epilepsy and bipolar disorder. It is also used as an adjunct in treating depression, though this is considered off-label usage...
or ethosuximide
Ethosuximide
Ethosuximide is a succinimide anticonvulsant, used mainly in absence seizures.-Approved:It is approved for absence seizures. Ethosuximide is considered the first choice drug for treating absence seizures in part because it lacks the idiosyncratic hepatotoxicity of the alternative anti-absence...
, appears to be the most effective regimen. The choice of the second drug depends on the main seizure type. Clonazepam is highly efficacious in eyelid myoclonia and myoclonic jerks. Of the newer antiepileptic drugs, 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.
Contra-indicated drugs are: Carbamazepine
Carbamazepine
Carbamazepine is an anticonvulsant and mood-stabilizing drug used primarily in the treatment of epilepsy and bipolar disorder, as well as trigeminal neuralgia...
, gabapentin
Gabapentin
Gabapentin is a pharmaceutical drug, specifically a GABA analogue. It was originally developed for the treatment of epilepsy, and currently is also used to relieve neuropathic pain...
, oxcarbazepine
Oxcarbazepine
Oxcarbazepine is a anticholinergic anticonvulsant and mood stabilizing drug, used primarily in the treatment of epilepsy. It is also used to treat anxiety and mood disorders, and benign motor tics...
, phenytoin
Phenytoin
Phenytoin sodium is a commonly used antiepileptic. Phenytoin acts to suppress the abnormal brain activity seen in seizure by reducing electrical conductance among brain cells by stabilizing the inactive state of voltage-gated sodium channels...
, pregabalin
Pregabalin
Pregabalin is an anticonvulsant drug used for neuropathic pain and as an adjunct therapy for partial seizures with or without secondary generalization in adults. It has also been found effective for generalized anxiety disorder and is approved for this use in the European Union. It was designed...
, tiagabine
Tiagabine
Tiagabine -Indications:Tiagabine is approved by U.S. Food and Drug Administration as an adjunctive treatment for partial seizures in ages 12 and up. It may also be prescribed to treat anxiety disorders and neuropathic pain . For anxiety and neuropathic pain, tiagabine is used primarily to augment...
and vigabatrin
Vigabatrin
Vigabatrin is an antiepileptic drug that inhibits the catabolism of gamma-aminobutyric acid by irreversibly inhibiting GABA transaminase. It is an analog of GABA, but it is not a receptor agonist...
.
Lifestyle and avoidance of seizure precipitants are important. Non-pharmacological treatments used for photosensitive patients (such as wearing special glasses or the newly commercially available blue Z1 lenses) should be employed in Jeavons syndrome when photosensitivity persists.