Jeavons syndrome

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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. [1] [2] Eyelid myoclonia is the defining seizure type of Jeavons syndrome. [3]

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Signs and symptoms

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 (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 seizures, 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 limbs 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. [4] It consists of repetitive and discontinuous episodes of eyelid myoclonia with mild absence, rather than continuous non- convulsive absence status epilepticus.

Onset is typically in childhood 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.

Precipitating factors

The most potent precipitating factor is eye closure, whether voluntary, involuntary or reflex. 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.

Cause

Jeavons syndrome is a genetically determined homogeneous syndrome, with a high prevalence of similar seizures in family members.

Diagnosis

All tests apart from the EEG 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.

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”.

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 tics, 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.

Management

Based on anecdotal evidence, the drugs of choice are those used for other idiopathic generalized epilepsies. [5] [6] 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.

Prognosis

Jeavons syndrome is a lifelong disorder, even if seizures are well controlled with antiepileptic drugs. Men have a better prognosis 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.

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<span class="mw-page-title-main">Epilepsy</span> Group of neurological disorders causing seizures

Epilepsy is a group of non-communicable neurological disorders characterized by recurrent epileptic seizures. An epileptic seizure is the clinical manifestation of an abnormal, excessive, and synchronized electrical discharge in the neurons. The occurrence of two or more unprovoked seizures defines epilepsy. The occurrence of just one seizure may warrant the definition in a more clinical usage where recurrence may be able to be prejudged. Epileptic seizures can vary from brief and nearly undetectable periods to long periods of vigorous shaking due to abnormal electrical activity in the brain. These episodes can result in physical injuries, either directly such as broken bones or through causing accidents. In epilepsy, seizures tend to recur and may have no detectable underlying cause. Isolated seizures that are provoked by a specific cause such as poisoning are not deemed to represent epilepsy. People with epilepsy may be treated differently in various areas of the world and experience varying degrees of social stigma due to the alarming nature of their symptoms.

Absence seizures are one of several kinds of generalized seizures. In the past, absence epilepsy was referred to as "pyknolepsy," a term derived from the Greek word "pyknos," signifying "extremely frequent" or "grouped". These seizures are sometimes referred to as petit mal seizures ; however, usage of this terminology is no longer recommended. Absence seizures are characterized by a brief loss and return of consciousness, generally not followed by a period of lethargy. Absence seizures are most common in children. They affect both sides of the brain.

<span class="mw-page-title-main">Myoclonus</span> Involuntary, irregular muscle twitch

Myoclonus is a brief, involuntary, irregular twitching of a muscle, a joint, or a group of muscles, different from clonus, which is rhythmic or regular. Myoclonus describes a medical sign and, generally, is not a diagnosis of a disease. It belongs to the hyperkinetic movement disorders, among tremor and chorea for example. These myoclonic twitches, jerks, or seizures are usually caused by sudden muscle contractions or brief lapses of contraction. The most common circumstance under which they occur is while falling asleep. Myoclonic jerks occur in healthy people and are experienced occasionally by everyone. However, when they appear with more persistence and become more widespread they can be a sign of various neurological disorders. Hiccups are a kind of myoclonic jerk specifically affecting the diaphragm. When a spasm is caused by another person it is known as a provoked spasm. Shuddering attacks in babies fall in this category.

<span class="mw-page-title-main">Lennox–Gastaut syndrome</span> Rare form of childhood-onset epilepsy

Lennox–Gastaut syndrome (LGS) is a complex, rare, and severe childhood-onset epilepsy syndrome. It is characterized by multiple and concurrent seizure types including tonic seizure, cognitive dysfunction, and slow spike waves on electroencephalogram (EEG), which are very abnormal. Typically, it presents in children aged 3–5 years and most of the time persists into adulthood with slight changes in the electroclinical phenotype. It has been associated with perinatal injuries, congenital infections, brain malformations, brain tumors, genetic disorders such as tuberous sclerosis and numerous gene mutations. Sometimes LGS is observed after infantile epileptic spasm syndrome. The prognosis for LGS is marked by a 5% mortality in childhood and persistent seizures into adulthood.

Reflex seizures are epileptic seizures that are consistently induced by a specific stimulus or trigger, making them distinct from other epileptic seizures, which are usually unprovoked. Reflex seizures are otherwise similar to unprovoked seizures and may be focal, generalized, myoclonic, or absence seizures. Epilepsy syndromes characterized by repeated reflex seizures are known as reflex epilepsies. Photosensitive seizures are often myoclonic, absence, or focal seizures in the occipital lobe, while musicogenic seizures are associated with focal seizures in the temporal lobe.

Myoclonic epilepsy refers to a family of epilepsies that present with myoclonus. When myoclonic jerks are occasionally associated with abnormal brain wave activity, it can be categorized as myoclonic seizure. If the abnormal brain wave activity is persistent and results from ongoing seizures, then a diagnosis of myoclonic epilepsy may be considered.

In the field of neurology, seizure types are categories of seizures defined by seizure behavior, symptoms, and diagnostic tests. The International League Against Epilepsy (ILAE) 2017 classification of seizures is the internationally recognized standard for identifying seizure types. The ILAE 2017 classification of seizures is a revision of the prior ILAE 1981 classification of seizures. Distinguishing between seizure types is important since different types of seizures may have different causes, outcomes, and treatments.

Dravet syndrome (DS), previously known as severe myoclonic epilepsy of infancy (SMEI), is an autosomal dominant genetic disorder which causes a catastrophic form of epilepsy, with prolonged seizures that are often triggered by hot temperatures or fever. It is very difficult to treat with anticonvulsant medications. It often begins before one year of age, with six months being the age that seizures, char­ac­ter­ized by prolonged convulsions and triggered by fever, usually begin.

Childhood absence epilepsy (CAE), formerly known as pyknolepsy, is an idiopathic generalized epilepsy which occurs in otherwise normal children. The age of onset is between 4–10 years with peak age between 5–7 years. Children have absence seizures which although brief, they occur frequently, sometimes in the hundreds per day. The absence seizures of CAE involve abrupt and severe impairment of consciousness. Mild automatisms are frequent, but major motor involvement early in the course excludes this diagnosis. The EEG demonstrates characteristic "typical 3Hz spike-wave" discharges. The presence of any other seizure type at time of diagnosis rules out the diagnose of CAE. Prognosis is usually good in well-defined cases of CAE with most patients "growing out" of their epilepsy.

Idiopathic generalized epilepsy (IGE) is a group of epileptic disorders that are believed to have a strong underlying genetic basis. IGE is considered a subgroup of Genetic Generalized Epilepsy (GGE). Patients with an IGE subtype are typically otherwise normal and have no structural brain abnormalities. People also often have a family history of epilepsy and seem to have a genetically predisposed risk of seizures. IGE tends to manifest itself between early childhood and adolescence although it can be eventually diagnosed later. The genetic cause of some IGE types is known, though inheritance does not always follow a simple monogenic mechanism.

Juvenile myoclonic epilepsy (JME), also known as Janz syndrome or impulsive petit mal, is a form of hereditary, idiopathic generalized epilepsy, representing 5–10% of all epilepsy cases. Typically it first presents between the ages of 12 and 18 with myoclonic seizures. These events typically occur after awakening from sleep, during the evening or when sleep-deprived. JME is also characterized by generalized tonic–clonic seizures, and a minority of patients have absence seizures. It was first described by Théodore Herpin in 1857. Understanding of the genetics of JME has been rapidly evolving since the 1990s, and over 20 chromosomal loci and multiple genes have been identified. Given the genetic and clinical heterogeneity of JME some authors have suggested that it should be thought of as a spectrum disorder.

<span class="mw-page-title-main">Generalized epilepsy</span> Epilepsy syndrome that is characterised by generalised seizures with no apparent cause

Generalized epilepsy is a form of epilepsy characterised by generalised seizures with no apparent cause. Generalized seizures, as opposed to focal seizures, are a type of seizure that impairs consciousness and distorts the electrical activity of the whole or a larger portion of the brain.

Progressive Myoclonic Epilepsies (PME) are a rare group of inherited neurodegenerative diseases characterized by myoclonus, resistance to treatment, and neurological deterioration. The cause of PME depends largely on the type of PME. Most PMEs are caused by autosomal dominant or recessive and mitochondrial mutations. The location of the mutation also affects the inheritance and treatment of PME. Diagnosing PME is difficult due to their genetic heterogeneity and the lack of a genetic mutation identified in some patients. The prognosis depends largely on the worsening symptoms and failure to respond to treatment. There is no current cure for PME and treatment focuses on managing myoclonus and seizures through antiepileptic medication (AED).

<span class="mw-page-title-main">Spike-and-wave</span>

Spike-and-wave is a pattern of the electroencephalogram (EEG) typically observed during epileptic seizures. A spike-and-wave discharge is a regular, symmetrical, generalized EEG pattern seen particularly during absence epilepsy, also known as ‘petit mal’ epilepsy. The basic mechanisms underlying these patterns are complex and involve part of the cerebral cortex, the thalamocortical network, and intrinsic neuronal mechanisms.

<span class="mw-page-title-main">Rolandic epilepsy</span> Most common epilepsy syndrome in childhood, usually subsiding with age

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Chrysostomos "Tomis" P. Panayiotopoulos FRCP was a Greek neurologist in the field of the epilepsies. Panayiotopoulos syndrome is named after him.

Idiopathic childhood occipital epilepsy of Gastaut (ICOE-G) is a pure but rare form of idiopathic occipital epilepsy that affects otherwise normal children and adolescents. It is classified amongst benign idiopathic childhood focal epilepsies such as rolandic epilepsy and Panayiotopoulos syndrome.

An epilepsy syndrome is defined as "a characteristic cluster of clinical and EEG features, often supported by specific etiological findings ."

SYNGAP1-related intellectual disability is a monogenetic developmental and epileptic encephalopathy that affects the central nervous system. Symptoms include intellectual disability, epilepsy, autism, sensory processing deficits, hypotonia and unstable gait.

References

  1. ↑ Panayiotopoulos CP, Agathonikou A, Koutroumanidis M, Giannakodimos S, Rowlinson S, Carr CP. Eyelid myoclonia with absences: the symptoms. In: Duncan JS, Panayiotopoulos CP, editors. Eyelid myoclonia with absences. London: John Libbey and Company Ltd, 1996:17–26
  2. ↑ Capovilla, Giuseppe; Striano, Pasquale; Gambardella, Antonio; Beccaria, Francesca; Hirsch, Edouard; Casellato, Susanna; Romeo, Antonino; Rubboli, Guido; Sofia, Vito; Teutonico, Federica; Valenti, Maria Paola; Striano, Salvatore (June 2009). "Eyelid fluttering, typical EEG pattern, and impaired intellectual function: A homogeneous epileptic condition among the patients presenting with eyelid myoclonia". Epilepsia. 50 (6): 1536–1541. doi:10.1111/j.1528-1167.2008.02002.x. PMID   19490056. S2CID   782878.
  3. ↑ Giannakodimos, Stylianos; Panayiotopoulos, Chrysostomos P. (January 1996). "Eyelid Myoclonia with Absences in Adults: A Clinical and Video-EEG Study". Epilepsia. 37 (1): 36–44. doi:10.1111/j.1528-1157.1996.tb00509.x. PMID   8603622. S2CID   40928184.
  4. ↑ Agathonikou A, Panayiotopoulos CP, Giannakodimos S, Koutroumanidis M. Typical absence status in adults: diagnostic and syndromic considerations. Epilepsia 1998; 39(12):1265–1276.
  5. ↑ Panayiotopoulos CP. Reflex seizures and related epileptic syndromes. In: A Clinical Guide to Epileptic Syndromes and Their Treatment. Revised 2nd edition. London: Springer, 2010:497–531.
  6. ↑ Covanis A. Jeavons syndrome. In: Panayiotopoulos CP, editor. Atlas of epilepsies. London: Springer; 2010. 1081–1092.
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