Rolandic epilepsy
Encyclopedia
In neurology
and pediatrics
, benign rolandic epilepsy or benign (childhood) epilepsy with centrotemporal (EEG) spikes (also known as sylvian seizures) is the most common epilepsy syndrome in childhood
. Most children will outgrow the syndrome (it starts around the age of 3-13 with a peak around 8–9 years and stops around age 14-18), hence the label benign
. The seizures start around the central sulcus
of the brain
(also called the centrotemporal area, located around the Rolandic fissure, after Luigi Rolando
).
tonic-clonic seizure
s. There can be one-sided somatosensory
manifestations such as tingling (paresthesia
) of one side of the tongue, speech arrest (anarthria), gurgling or grunting noises or drooling
. Seizures tend to occur more often during the night. Psychic manifestations, aura
s and automatisms are lacking. The seizure frequency is often low. These children usually have normal intelligence and development. Atypical features however, such as developmental delay or daytime seizures, are common.
There is increasing data that a subset of children with atypical EEG or clinical features appear to be at risk for cognitive and behavioral problems, thus in some children the diagnosis may not be as "benign" as previously thought. Most children however appear to do well, typically outgrowing their seizures by adolescence.
(EEG). Typically, high-voltage spikes followed by slow waves are seen. Given the nocturnal activity, a sleep EEG can often be helpful. Technically, the label "benign" can only be confirmed if the child's development continues to be normal during follow-up. Neuroimaging, usually with an MRI scan, is only advised for cases with atypical presentation or atypical findings on clinical examination or EEG.
, gabapentin
, levetiracetam and sultiame have been found effective as well. Bedtime dosing is advised by some. Treatment can be short and drugs can almost certainly be discontinued after two years without seizures and with normal EEG findings, perhaps even earlier.
. An autosomal dominant inheritance with age dependency and variable penetrance has been reported, although not all studies support this theory. Linkage studies
have pointed to a possible susceptibility region on chromosome 15q14, in the vicinity of the alpha-7 subunit of the acetylcholine receptor
. Most studies show a slight male predominance. Because of the benign course and age-specific occurrence, it is thought to represent a hereditary impairment of brain maturation.
An association with ELP4
has been identified.
from several other conditions, especially centrotemporal spikes without seizures, centrotemporal spikes with local brain pathology, central spikes in Rett syndrome
and fragile X syndrome
, malignant rolandic epilepsy, temporal lobe epilepsy
and Landau-Kleffner syndrome
.
Neurology
Neurology is a medical specialty dealing with disorders of the nervous system. Specifically, it deals with the diagnosis and treatment of all categories of disease involving the central, peripheral, and autonomic nervous systems, including their coverings, blood vessels, and all effector tissue,...
and pediatrics
Pediatrics
Pediatrics or paediatrics is the branch of medicine that deals with the medical care of infants, children, and adolescents. A medical practitioner who specializes in this area is known as a pediatrician or paediatrician...
, benign rolandic epilepsy or benign (childhood) epilepsy with centrotemporal (EEG) spikes (also known as sylvian seizures) is the most common epilepsy syndrome in childhood
Childhood
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...
. Most children will outgrow the syndrome (it starts around the age of 3-13 with a peak around 8–9 years and stops around age 14-18), hence the label benign
Benign
A benign tumor is a tumor that lacks the ability to metastasize. Common examples of benign tumors include moles and uterine fibroids.The term "benign" implies a mild and nonprogressive disease. Indeed, many kinds of benign tumors are harmless to human health...
. The seizures start around the central sulcus
Central sulcus
-External links:* via the Neuroscience Information Framework...
of the brain
Brain
The brain is the center of the nervous system in all vertebrate and most invertebrate animals—only a few primitive invertebrates such as sponges, jellyfish, sea squirts and starfishes do not have one. It is located in the head, usually close to primary sensory apparatus such as vision, hearing,...
(also called the centrotemporal area, located around the Rolandic fissure, after Luigi Rolando
Luigi Rolando
Luigi Rolando was an Italian anatomist.As a University of Turin professor, he devoted his life in studying brain anatomy.The Substantia gelatinosa of Rolando and the fissure of Rolando are named for him.-External links:*...
).
Symptoms
Benign rolandic epilepsy is characterized by either simple partial seizures involving the mouth and face or generalizedGeneralised epilepsy
Generalised epilepsy, also known as primary generalised epilepsy or idiopathic epilepsy, is a form of epilepsy characterised by generalised seizures with no apparent cause...
tonic-clonic seizure
Tonic-clonic seizure
Tonic–clonic seizures are a type of generalized seizure that affects the entire brain...
s. There can be one-sided somatosensory
Somatosensory system
The somatosensory system is a diverse sensory system composed of the receptors and processing centres to produce the sensory modalities such as touch, temperature, proprioception , and nociception . The sensory receptors cover the skin and epithelia, skeletal muscles, bones and joints, internal...
manifestations such as tingling (paresthesia
Paresthesia
Paresthesia , spelled "paraesthesia" in British English, is a sensation of tingling, burning, pricking, or numbness of a person's skin with no apparent long-term physical effect. It is more generally known as the feeling of "pins and needles" or of a limb "falling asleep"...
) of one side of the tongue, speech arrest (anarthria), gurgling or grunting noises or drooling
Drooling
Drooling is when saliva flows outside the mouth...
. Seizures tend to occur more often during the night. Psychic manifestations, aura
Aura (symptom)
An aura is a perceptual disturbance experienced by some migraine sufferers before a migraine headache, and the telltale sensation experienced by some people with epilepsy before a seizure. It often manifests as the perception of a strange light, an unpleasant smell or confusing thoughts or...
s and automatisms are lacking. The seizure frequency is often low. These children usually have normal intelligence and development. Atypical features however, such as developmental delay or daytime seizures, are common.
There is increasing data that a subset of children with atypical EEG or clinical features appear to be at risk for cognitive and behavioral problems, thus in some children the diagnosis may not be as "benign" as previously thought. Most children however appear to do well, typically outgrowing their seizures by adolescence.
Diagnosis
The diagnosis can be confirmed when the characteristic centrotemporal spikes are seen on electroencephalographyElectroencephalography
Electroencephalography is the recording of electrical activity along the scalp. EEG measures voltage fluctuations resulting from ionic current flows within the neurons of the brain...
(EEG). Typically, high-voltage spikes followed by slow waves are seen. Given the nocturnal activity, a sleep EEG can often be helpful. Technically, the label "benign" can only be confirmed if the child's development continues to be normal during follow-up. Neuroimaging, usually with an MRI scan, is only advised for cases with atypical presentation or atypical findings on clinical examination or EEG.
Treatment
Given the benign nature of the condition and the low seizure frequency, treatment is often unnecessary. If treatment is warranted or preferred by the child and its family, antiepileptic drugs can usually control the seizures easily. Carbamazepine is the most frequently used first-line drug, but many other antiepileptic drugs, including valproate, phenytoinPhenytoin
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...
, 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...
, levetiracetam and sultiame have been found effective as well. Bedtime dosing is advised by some. Treatment can be short and drugs can almost certainly be discontinued after two years without seizures and with normal EEG findings, perhaps even earlier.
Genetics and disease mechanism
Benign epilepsy with centrotemporal spikes is thought to be a genetic disorderGenetic disorder
A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions....
. An autosomal dominant inheritance with age dependency and variable penetrance has been reported, although not all studies support this theory. Linkage studies
Genetic linkage
Genetic linkage is the tendency of certain loci or alleles to be inherited together. Genetic loci that are physically close to one another on the same chromosome tend to stay together during meiosis, and are thus genetically linked.-Background:...
have pointed to a possible susceptibility region on chromosome 15q14, in the vicinity of the alpha-7 subunit of the acetylcholine receptor
Acetylcholine receptor
An acetylcholine receptor is an integral membrane protein that responds to the binding of acetylcholine, a neurotransmitter.-Classification:...
. Most studies show a slight male predominance. Because of the benign course and age-specific occurrence, it is thought to represent a hereditary impairment of brain maturation.
An association with ELP4
ELP4
Elongation protein 4 homolog , also known as ELP4, is a protein which in humans is encoded by the ELP4 gene.-Function:...
has been identified.
Differential diagnosis
The disorder should be differentiatedDifferential diagnosis
A differential diagnosis is a systematic diagnostic method used to identify the presence of an entity where multiple alternatives are possible , and may also refer to any of the included candidate alternatives A differential diagnosis (sometimes abbreviated DDx, ddx, DD, D/Dx, or ΔΔ) is a...
from several other conditions, especially centrotemporal spikes without seizures, centrotemporal spikes with local brain pathology, central spikes in Rett syndrome
Rett syndrome
Rett syndrome is a neurodevelopmental disorder of the grey matter of the brain that almost exclusively affects females. The clinical features include small hands and feet and a deceleration of the rate of head growth . Repetitive hand movements, such as wringing and/or repeatedly putting hands into...
and fragile X syndrome
Fragile X syndrome
Fragile X syndrome , Martin–Bell syndrome, or Escalante's syndrome , is a genetic syndrome that is the most commonly known single-gene cause of autism and the most common inherited cause of intellectual disability...
, malignant rolandic epilepsy, temporal lobe epilepsy
Temporal lobe epilepsy
Temporal lobe epilepsy a.k.a. Psychomotor epilepsy, is a form of focal epilepsy, a chronic neurological condition characterized by recurrent seizures. Over 40 types of epilepsies are known. They fall into two main categories: partial-onset epilepsies and generalized-onset epilepsies...
and Landau-Kleffner syndrome
Landau-Kleffner syndrome
Landau–Kleffner syndrome , also called infantile acquired aphasia, acquired epileptic aphasia or aphasia with convulsive disorder, is a rare, childhood neurological syndrome....
.