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Rolandic Epilepsy

Epilepsies Rolandic

Rolandic epilepsy, sometimes also referred to as benign childhood epilepsy with centrotemporal spikes, is the most common type of childhood epilepsy. Spontaneous remission before puberty is observed in the majority of cases.


Presentation

Characteristic RE seizures are hemifacial motor seizures, sometimes also motorsensory seizures. Secondary generalization is observed in few cases. Affected children may show unilateral clonic or tonic contractions of their mimic musculature. Eye deviation may be noted. Sialorrhea is generally reported and results from the inability to close the mouth. Speech arrest, possibly emission of guttural, unintelligible sounds due to loss of control about muscles used for articulation are additional frequent findings. For this same reason, RE patients may rattle, grunt or gurgle. In some cases, involuntary muscle contractions are also observed in the ipsilateral upper limb, mainly in the respective hand. Some patients claim headaches and sensory alterations, mainly paresthesias and numbness in oral cavity, tongue and face. A tingling feeling is most often described. Awareness during RE seizures is generally unaltered, but retrograde amnesia has also been reported. Most seizures occur at night and generally last less than a minute, possibly also two or three. If an RE patient enters status epilepticus, they are likely to suffer from additional neurological anomalies.

In general, RE patients don't lag behind in development and intelligence. Their morphology is not significantly different from their peers, nor are their cognitive and motor capabilities. However, further development may be delayed over the course of the disease. After remission, children should be able to catch up with their fellows, although persistent deficiencies in cognition, literacy and language have been described [2].

Epilepsy
  • Neville, Academic achievement in children with epilepsy: A review, Epilepsy Research, 97, 1-2, (112), (2011).[doi.org]
Gaucher Disease
  • Shapiro and Igor Nestrasil, Previously unrecognized behavioral phenotype in Gaucher disease type 3, Neurology Genetics, 3, 3, (e158), (2017). Kathryn A. Salvati and Mark P.[doi.org]
Long Arm
  • Abstract We studied the seizure disorders manifested by three previously reported children with "de novo" terminal deletions of the long arm of chromosome 1 (46,XX,del(1)(q43)) and similar clinical phenotypes.[ncbi.nlm.nih.gov]
Seizure
  • The total number of seizures is low, the majority of patients having fewer than 10 seizures; 10–20% have just a single seizure. About 10–20% may have frequent seizures, but these also remit with age.[en.wikipedia.org]
  • In rare cases, seizures involve the ipsilateral upper limb. Most RE seizures last less than a minute.[symptoma.com]
  • One patient had two visual attacks only and remained seizure free after 4 years of follow-up, while the other had seizures controlled by an association of valproate and carbamazepine.[ncbi.nlm.nih.gov]
Average Intelligence
  • Tiziana Zilli, Sergio Zanini, Stefania Conte, Renato Borgatti and Cosimo Urgesi, Neuropsychological assessment of children with epilepsy and average intelligence using NEPSY II, Journal of Clinical and Experimental Neuropsychology, 37, 10, (1036), (2015[doi.org]
  • Learning disability: An abnormal condition affecting children of normal or above-average intelligence, characterized by difficulty in learning fundamentals such as reading (dyslexia), writing (dysgraphia), and math (dyscalculia).[childneurologyfoundation.org]

Workup

Typical symptoms in a prepubertal child prompt the suspicion for RE and should lead to electroencephalographic evaluation. RE patients show characteristic interictal spikes that originate from the centrotemporal area. RE-associated spikes are generally slow, diphasic and of high voltage. Anomalies may be detected bilaterally, but unilateral findings are more common. Moreover, one and the same patient may show left-sided spikes today and right-sided spikes tomorrow. Abnormal discharges increase while the patient is sleeping, but their morphology is maintained. In some patients, RE-like discharges are only observed during sleep. Neither light stimulation nor hyperventilation seem sufficient to induce abnormal discharges or seizures.

Clinical presentation and electroencephalographic findings are usually diagnostic. Should doubts remain - due to additional abnormal discharges visualized by means of electroencephalography, for instance -, neuroimaging is indicated. Magnetic resonance imaging is the method of choice to evaluate brain structures.

Focal Sharp-Waves
  • sharp waves and RD in siblings.[ncbi.nlm.nih.gov]
  • We acknowledge Professor Hermann Doose's intellectual contribution to the nosology of focal sharp wave-associated phenotypes in children.[doi.org]
Photoparoxysmal Response
  • EEG showed interictal occipital spikes, and a photoparoxysmal response limited to the occipital lobes. Visual evoked potentials were greatly increased in amplitude.[ncbi.nlm.nih.gov]
Rhythmic Slowing
  • Akihisa Mitsudome, Masaharu Ohu, Sawa Yasumoto and Atsushi Ogawa, Rhythmic Slow Activity in Benign Childhood Epilepsy with Centrotemporal Spikes, Clinical Electroencephalography, 28, 1, (44), (1997).[doi.org]
Occipital Intermittent Rhythmic Delta Activity
  • Kaplan and Thien Nguyen, Occipital Intermittent Rhythmic Delta Activity[1–5], Clinical Electrophysiology, (14-15), (2010). Lisa L.[doi.org]

Treatment

A few years ago, about 80 Canadian adults who had been diagnosed with RE in childhood have been interviewed regarding their current state of health. None of the study participants continued to suffer from epileptic seizures although nearly half of them never received any treatment for RE [8]. Other studies yielded similar results and thus, it is actually recommended not to prescribe any antiepileptic drugs to RE patients. In fact, low frequency and severity of seizures do not justify a prolonged treatment with benzodiazepines that may cause side effects like drowsiness and sleep problems upon cessation of therapy.

In severe cases - if the child is having seizures during daytime or secondary generalization occurs, for instance - carbamazepine or anticonvulsant benzodiazepines like clonazepam and levetiracetam are the drugs of choice to control seizures [9] [10]. Few RE cases may prove to be drug resistant and neither one of the above mentioned drugs nor phenobarbital, phenytoin or valproic acid reduces seizure frequency. Somewhat surprisingly, drug resistance does apparently not affect the patient's prognosis and RE is considered a self-limiting disease even in these cases. In general, antiepileptic treatment may be discontinued if a patient has been seizure-free for two years.

Prognosis

Prognosis is excellent and symptoms subside spontaneously few years after the first seizure. Some RE patients never experience a second seizure, and most have less than a dozen in total. In general, seizure frequency and severity is very low. Virtually all RE cases undergo spontaneous remission before or during early puberty even if no special treatment is provided [8]. If epilepsy persists into adulthood, the patient likely suffers from additional neurological anomalies that may or may not be detectable in electroencephalographic studies.

Recent studies propose an increased risk for cognitive and linguistic deficiencies in adults that suffered from this type of childhood epilepsy. However, no correlation could be proven between seizure frequency, treatment provided and long-term sequelae.

Etiology

As can be deduced from the alternative designation benign childhood epilepsy with centrotemporal spikes, abnormal discharges in the centrotemporal area are characteristic for RE. Such discharges are generally deemed idiopathic because no molecular triggers could be identified so far. However, a genetic disorder has long since been assumed to account for these spikes and has recent studies imply a relation to DNA sequence variants in ELP4 [3]. This gene encodes for elongator protein complex 4, which is a subunit of a histone acetyltransferase that is active during transcriptional elongation. Little is known about its inheritance, penetrance and expressivity.

Moreover, the fact that epileptiform discharges in centrotemporal areas are also observed in seizure-free children leads to the conclusion that additional pathogenetic mechanisms contribute to seizure onset. None have been described so far.

Of note, seizure-free children with RE-like electroencephalographic findings often show developmental defects in coordination, cognition, literacy and language [3].

Epidemiology

RE is the most common type of epilepsy in childhood and accounts for up to 20% of all such diagnoses. Its overall incidence has been estimated to range between 1 and 2 per 10,000 prepubertal children. Boys are more frequently diagnosed with RE than girls and the male-to-female ratio is approximately 3:2. While infants may be affected, most RE patients are aged seven to ten years. Spontaneous remission is usually expected before the age of thirteen, although some patients may have seizures until several years later.

Sex distribution
Age distribution

Pathophysiology

Epileptic discharges originating from the centrotemporal area are characteristic for RE. This brain region comprises the central sulcus, which separates frontal and parietal lobes in both hemispheres of the cerebrum, and adjacent brain tissue, and extends towards the respective temporal lobe. Historically, this region has also been referred to as Rolandic cortex or Rolandic fissure, in honor of the Italian neuroanatomist Luigi Rolando. This area is involved in distinct motor and sensory networks [4]. As depicted in an electroencephalogram, RE-like spikes originating from that brain region increase during non-REM sleep but measurements repeated at distinct times of the day don't reveal alterations in wave morphology. Bilaterally synchronous discharges, unilateral discharges on right side as well as unilateral discharges on left side have been observed in RE patients [5] although seizures are limited to one side of the face in the vast majority of patients.

During seizures, patients are unable to control their mimic musculature and may suffer from anarthria. These symptoms result from disturbances in regulation of muscle tone and do not reflect anomalies in superordinate brain structures and cognition. The child is merely unable to form a word because they cannot control muscle action required for articulation. Similarly, drooling may simply result from the inability to withhold saliva inside the oral cavity, although hypersalivation is sometimes reported. According to current knowledge, RE seizures are not related to an increase in salivary gland activity.

Few RE patients develop status epilepticus and those that do may suffer from neurological comorbidities and additional epileptic discharges [6]. In one case, a patient initially diagnosed with RE had prolonged RE-like seizures characterized by drooling and anarthria, and showed electroencephalographic alterations consistent with Foix-Chavany-Marie syndrome [7].

Prevention

To date, no specific measures can be recommended to prevent RE. Future research may shed more light on genetic factors contributing to disease onset and eventually, affected families may benefit from genetic counseling before deciding on having children.

Summary

Rolandic epilepsy (RE), sometimes also designated benign childhood epilepsy with centrotemporal spikes, accounts for up to 20% of childhood epilepsy cases and is typically diagnosed in children aged three to thirteen years. The course of the disease is mild and this type of epilepsy is generally self-limiting within a few years and before puberty. In most cases, affected individuals don't have more than a dozen seizures over the course of the disease. And although according to older literature, neither psychological nor motor sequelae are to be expected, negative impacts on development of reading and language abilities have been a matter of recent debates [1] [2].

RE seizures are non-febrile focal seizures that preferentially occur at night. In most patients, hemifacial motor seizures are observed. They are typically related with clonic contractions of the mimic musculature, drooling and anarthria. Tonic contractions are less frequently seen. Some patients report sensory alterations like numbness and paresthesias in the oral cavity and in close proximity to the lips. In rare cases, seizures involve the ipsilateral upper limb. Most RE seizures last less than a minute.

Otherwise, morphological, psychological and motor development of pediatric RE patients is normal, but further acquisition of skills over the course of the disease may be delayed. As has been stated above, these deficits are mostly caught up for after remission.

An electroencephalogram shows characteristic alterations, mainly interictal epileptic discharges in centrotemporal areas, but unless the patient suffers from any comorbidities, neuroimaging does not yield any pathological results. Discharges increase while the patient is sleeping. Interestingly, similar electroencephalographic findings may be detected in seizure-free, apparently healthy children. It is not yet completely clear which etiological factors trigger the symptom onset in pediatric patients.

Most RE patients don't require any special treatment. In severe cases, benzodiazepine anticonvulsants may be prescribed for limited periods of time.

Patient Information

Rolandic epilepsy (RE) is the most common form of childhood epilepsy. It is sometimes also referred to as benign childhood epilepsy with centrotemporal spikes, a more descriptive term that already reveals important aspects of this disease: The course of the disease is mild, epileptical seizures occur with a very low frequency and symptoms subside spontaneously a few years after the first seizure has been observed. Abnormal discharges triggering RE-like seizures originate from a brain region called the centrotemporal area.

Pediatric patient aged three to thirteen years may be diagnosed with RE, but most RE patients are younger than ten years.

Causes

The direct cause of RE-like seizures are abnormal discharges within the centrotemporal brain region, an area also designated the Rolandic cortex. Its neurons are involved in several complex motor and sensory networks. Presumably, a gene mutation affecting the ELP4 gene on chromosome 11 accounts for these spikes that may be visualized applying electroencephalographic methods.

Symptoms

Most RE seizures are hemifacial motor seizures, i.e., they affect the musculature of one side of the childs face. During a seizure, the child can't control their mimic musculature, suffers clonic contractions, drools and is unable to articulate a word. In some cases, the ipsilateral upper limb may be affected, but generalization rarely occurs. Some affected individuals report numbness and strange sensations in oral cavity, tongue or face.

In general, RE seizures don't last more than a minute. They occur preferentially at night. Some patients never experience a second seizure, few have more than a dozen.

Diagnosis

Diagnosis is based on clinical findings and electroencephalographic results. As has been mentioned above, RE is characterized by abnormal discharges that originate from the centrotemporal region. These may be visualized in an electroencephalogram.

Treatment

Due to low frequency and severity of seizures and because spontaneous remission can be expected, no special treatment is required. Antiepileptic drugs like carbamazepine, clonazepam and levetiracetam may cause side effects and should therefore be reserved for severe cases of RE. If a child receives medication to control seizures, a two-year seizure-free period is generally considered as the right point in time to cease therapy.

References

Article

  1. Camfield CS, Camfield PR. Rolandic epilepsy has little effect on adult life 30 years later: a population-based study. Neurology. 2014; 82(13):1162-1166.
  2. Smith AB, Bajomo O, Pal DK. A meta-analysis of literacy and language in children with rolandic epilepsy. Dev Med Child Neurol. 2015; 57(11):1019-1026.
  3. Strug LJ, Clarke T, Chiang T, et al. Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4). Eur J Hum Genet. 2009; 17(9):1171-1181.
  4. Farrell DF, Burbank N, Lettich E, Ojemann GA. Individual variation in human motor-sensory (rolandic) cortex. J Clin Neurophysiol. 2007; 24(3):286-293.
  5. Lin YY, Chang KP, Hsieh JC, et al. Magnetoencephalographic analysis of bilaterally synchronous discharges in benign rolandic epilepsy of childhood. Seizure. 2003; 12(7):448-455.
  6. Su XM, Zhang GP, Yang BZ, Li L. [Clinical analysis of 4 cases of childhood Rolandic epilepsy with electrical status epilepticus during sleep]. Zhongguo Dang Dai Er Ke Za Zhi. 2011; 13(4):344-345.
  7. Colamaria V, Sgro V, Caraballo R, et al. Status epilepticus in benign rolandic epilepsy manifesting as anterior operculum syndrome. Epilepsia. 1991; 32(3):329-334.
  8. Peters JM, Camfield CS, Camfield PR. Population study of benign rolandic epilepsy: is treatment needed? Neurology. 2001; 57(3):537-539.
  9. Kubota M, Takeshita K, Saitoh M, Hirose H, Kimura I, Sakakihara Y. Magnetoencephalographic analysis of rolandic discharges in a patient with rolandic epilepsy associated with oromotor deficits. J Child Neurol. 2004; 19(6):456-459.
  10. Verrotti A, Coppola G, Manco R, et al. Levetiracetam monotherapy for children and adolescents with benign rolandic seizures. Seizure. 2007; 16(3):271-275.

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Last updated: 2019-07-11 21:37