Benign Rolandic epilepsy or benign childhood epilepsy with centrotemporal spikes (BCECTS) is the most common
epilepsy syndrome in
childhood
A child (plural, : children) is a human being between the stages of childbirth, birth and puberty, or between the Development of the human body, developmental period of infancy and puberty. The legal definition of ''child'' generally refers ...
.
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
Malignancy () is the tendency of a medical condition to become progressively worse.
Malignancy is most familiar as a characterization of cancer. A ''malignant'' tumor contrasts with a non-cancerous benign tumor, ''benign'' tumor in that a malign ...
.
The seizures, sometimes referred to as ''sylvian seizures'', start around the
central sulcus
In neuroanatomy, the central sulcus (also central fissure, fissure of Rolando, or Rolandic fissure, after Luigi Rolando) is a sulcus, or groove, in the cerebral cortex in the brains of vertebrates. It is sometimes confused with the longitudinal ...
of the
brain
A brain is an organ that serves as the center of the nervous system in all vertebrate and most invertebrate animals. It is located in the head, usually close to the sensory organs for senses such as vision. It is the most complex organ in a v ...
(also called the centrotemporal area, located around the Rolandic fissure, after
Luigi Rolando
Luigi Rolando (16 June 1773, Turin – 20 April 1831, Turin) was an Italian anatomist known for his pioneering research in brain localization of function.
He studied medicine in Turin, later continuing his education in Florence, where he studie ...
).
[Benign Rolandic epilepsy]
Retrieved August 8, 2008.
Signs and symptoms
![Central sulcus superior view](https://upload.wikimedia.org/wikipedia/commons/c/c2/Central_sulcus_superior_view.png)
The cardinal features of Rolandic epilepsy are infrequent, often single, focal seizures consisting of:
:a. unilateral facial sensorimotor symptoms (30% of patients)
:b. oropharyngolaryngeal manifestations (53% of patients)
:c. speech arrest (40% of patients), and
:d. hypersalivation (30% of patients)
Hemifacial sensorimotor seizures are often entirely localised in the lower lip or spread to the ipsilateral hand. Motor manifestations are sudden, continuous or bursts of clonic contractions, usually lasting from a few seconds to a minute. Ipsilateral tonic deviation of the mouth is also common. Hemifacial sensory symptoms consist of unilateral numbness mainly in the corner of the mouth.
Hemifacial seizures are often associated with an inability to speak and hypersalivation:
''The left side of my mouth felt numb and started jerking and pulling to the left, and I could not speak to say what was happening to me.''
Negative myoclonus can be observed in some cases, as an interruption of tonic muscular activity
Oropharyngolaryngeal ictal manifestations are unilateral sensorimotor symptoms inside the mouth. Numbness, and more commonly paraesthesias (tingling, prickling, freezing), are usually diffuse on one side or, exceptionally, may be highly localised even to one tooth. Motor oropharyngolaryngeal symptoms produce strange sounds, such as death rattle, gargling, grunting and guttural sounds, and combinations:
''In his sleep, he was making guttural noises, with his mouth pulled to the right, ‘as if he was chewing his tongue’''. ''We heard her making strange noises ‘like roaring’ and found her unresponsive, head raised from the pillow, eyes wide open, rivers of saliva coming out of her mouth, rigid.''
Arrest of speech is a form of anarthria. The child is unable to utter a single intelligible word and attempts to communicate with gestures.
''My mouth opened and I could not speak. I wanted to say I cannot speak. At the same time, it was as if somebody was strangling me.''
Hypersalivation, a prominent autonomic manifestation, is often associated with hemifacial seizures, oro-pharyngo-laryngeal symptoms and speech arrest. Hypersalivation is not just frothing:
''Suddenly my mouth is full of saliva, it runs out like a river and I cannot speak.''
Syncope-like epileptic seizures may occur, probably as a concurrent symptom of
Panayiotopoulos syndrome
Panayiotopoulos syndrome (named after Chrysostomos P. Panayiotopoulos, C. P. Panayiotopoulos) is a common idiopathic childhood-related seizure disorder that occurs exclusively in otherwise normal children (idiopathic epilepsy) and manifests mainly ...
:
''She lies there, unconscious with no movements, no convulsions, like a wax work, no life.''
Consciousness and recollection are fully retained in more than half (58%) of Rolandic seizures.
''I felt that air was forced into my mouth, I could not speak and I could not close my mouth. I could understand well everything said to me. Other times I feel that there is food in my mouth and there is also a lot of salivation. I cannot speak.''
In the remainder (42%), consciousness becomes impaired during the ictal progress and in one third there is no recollection of ictal events.
Progression to hemiconvulsions or generalised tonic-clonic seizures occurs in around half of children and hemiconvulsions may be followed by postictal Todd's hemiparesis.
Duration and circadian distribution: Rolandic seizures are usually brief, lasting for 1–3 minutes. Three-quarters of seizures occur during nonrapid eye movement sleep, mainly at sleep onset or just before awakening.
Status epilepticus: Although rare, focal motor status or hemiconvulsive status epilepticus is more likely to occur than secondarily generalised convulsive status epilepticus, which is exceptional.
Opercular status epilepticus usually occurs in children with atypical evolution or may be induced by carbamazepine or lamotrigine. This state lasts for hours to months and consists of ongoing unilateral or bilateral contractions of the mouth, tongue or eyelids, positive or negative subtle perioral or other myoclonus,
dysarthria
Dysarthria is a speech sound disorder resulting from neurological injury of the motor component of the motor–speech system and is characterized by poor articulation of phonemes. In other words, it is a condition in which problems effectively ...
, speech arrest, difficulties in swallowing, buccofacial apraxia and hypersalivation. These are often associated with continuous spikes and waves on an EEG during
NREM sleep
Non-rapid eye movement sleep (NREM), also known as quiescent sleep, is, collectively, sleep stages 1–3, previously known as stages 1–4. Rapid eye movement sleep (REM) is not included. There are distinct electroencephalographic and other cha ...
.
Other seizure types: Despite prominent hypersalivation, focal seizures with primarily autonomic manifestations (
autonomic seizures) are not considered part of the core clinical syndrome of Rolandic epilepsy. However, some children may present with independent autonomic seizures or seizures with mixed Rolandic-autonomic manifestations including emesis as in
Panayiotopoulos syndrome
Panayiotopoulos syndrome (named after Chrysostomos P. Panayiotopoulos, C. P. Panayiotopoulos) is a common idiopathic childhood-related seizure disorder that occurs exclusively in otherwise normal children (idiopathic epilepsy) and manifests mainly ...
.
Atypical forms: Rolandic epilepsy may present with atypical manifestations such early age at onset, developmental delay or learning difficulties at inclusion, other seizure types, atypical EEG abnormalities.
These children usually have normal intelligence and development.
Learning can remain unimpaired while a child is afflicted with Rolandic epilepsy.
Cause
Benign epilepsy with centrotemporal spikes is thought to be a
genetic disorder
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders ...
. An autosomal dominant inheritance with age dependency and variable penetrance has been reported, although not all studies support this theory.
Linkage studies
Genetic linkage is the tendency of DNA sequences that are close together on a chromosome to be inherited together during the meiosis phase of sexual reproduction. Two genetic markers that are physically near to each other are unlikely to be separ ...
have pointed to a possible
susceptibility region
Susceptibility may refer to:
Physics and engineering
In physics the susceptibility is a quantification for the change of an extensive property under variation of an intensive property. The word may refer to:
* In physics, the susceptibility of a ...
on
chromosome 15
Chromosome 15 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 15 spans about 102 million base pairs (the building material of DNA) and represents between 3% and 3.5% of the total DN ...
q14, in the vicinity of the alpha-7 subunit of the
acetylcholine receptor
An acetylcholine receptor (abbreviated AChR) is an integral membrane protein that responds to the binding of acetylcholine, a neurotransmitter.
Classification
Like other transmembrane receptors, acetylcholine receptors are classified according ...
.
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
Elongation protein 4 homolog (S. cerevisiae), also known as ELP4, is a protein which in humans is encoded by the ''ELP4'' gene.
Function
This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that a ...
has been identified.
Diagnosis
The diagnosis can be confirmed when the characteristic centrotemporal spikes are seen on
electroencephalography
Electroencephalography (EEG) is a method to record an electrogram of the spontaneous electrical activity of the brain. The biosignals detected by EEG have been shown to represent the postsynaptic potentials of pyramidal neurons in the neocortex ...
(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
Magnetic resonance imaging (MRI) is a medical imaging technique used in radiology to form pictures of the anatomy and the physiological processes of the body. MRI scanners use strong magnetic fields, magnetic field gradients, and radio waves ...
, is only advised for cases with atypical presentation or atypical findings on
clinical examination
In a physical examination, medical examination, or clinical examination, a medical practitioner examines a patient for any possible medical signs or symptoms of a medical condition. It generally consists of a series of questions about the patie ...
or EEG.
The disorder should be
differentiated from several other conditions, especially centrotemporal spikes without seizures, centrotemporal spikes with local brain pathology, central spikes in
Rett syndrome
Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6–18 months of age and almost exclusively in females. Symptoms include impairments in language and coordination, and repetitive movements. Those affected often h ...
and
fragile X syndrome
Fragile X syndrome (FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability. The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled. Physical features may ...
,
malignant Rolandic epilepsy,
temporal lobe epilepsy
Temporal lobe epilepsy (TLE) is a chronic disorder of the nervous system which is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes. TLE is the most common f ...
and
Landau-Kleffner syndrome.
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 his or her family,
antiepileptic drugs can usually control the seizures easily.
Carbamazepine
Carbamazepine (CBZ), sold under the trade name Tegretol among others, is an anticonvulsant medication used primarily in the treatment of epilepsy and neuropathic pain. It is used as an adjunctive treatment in schizophrenia along with other m ...
is the most frequently used first-line drug, but many other
antiepileptic drugs
Anticonvulsants (also known as antiepileptic drugs or recently as antiseizure drugs) are a diverse group of pharmacological agents used in the treatment of epileptic seizures. Anticonvulsants are also increasingly being used in the treatment of b ...
, including
valproate
Valproate (VPA) and its valproic acid, sodium valproate, and valproate semisodium forms are medications primarily used to treat epilepsy and bipolar disorder and prevent migraine headaches. They are useful for the prevention of seizures in those ...
,
phenytoin
Phenytoin (PHT), sold under the brand name Dilantin among others, is an anti-seizure medication. It is useful for the prevention of tonic-clonic seizures (also known as grand mal seizures) and focal seizures, but not absence seizures. The intr ...
,
gabapentin
Gabapentin, sold under the brand name Neurontin among others, is an anticonvulsant medication primarily used to treat partial seizures and neuropathic pain. It is a first-line medication for the treatment of neuropathic pain caused by diabet ...
,
levetiracetam
Levetiracetam, sold under the brand name Keppra among others, is a medication used to treat epilepsy. It is used for partial-onset, myoclonic, or tonic–clonic seizures and is taken either by mouth as an immediate or extended release formul ...
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.
Parental education about Rolandic epilepsy is the cornerstone of correct management. The traumatizing, sometimes long-lasting effect on parents is significant.
It is unclear if there are any benefits to
clobazam
Clobazam, sold under the brand names Frisium, Onfi and others, is a benzodiazepine class medication that was patented in 1968. Clobazam was first synthesized in 1966 and first published in 1969. Clobazam was originally marketed as an anxioselec ...
over other seizure medications.
Prognosis
The prognosis for Rolandic seizures is invariably excellent, with probably less than 2% risk of developing absence seizures and less often
GTCS in adult life.
Remission usually occurs within 2–4 years from onset and before the age of 16 years. 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.
Children with Rolandic seizures may develop usually mild and reversible linguistic, cognitive and behavioural abnormalities during the active phase of the disease. These may be worse in children with onset of seizures before 8 years of age, high rate of occurrence and multifocal EEG spikes.
The development, social adaptation and occupations of adults with a previous history of Rolandic seizures were found normal.
Epidemiology
The age of onset ranges from 1 to 14 years with 75% starting between 7–10 years. There is a 1.5 male predominance, prevalence is around 15% in children aged 1–15 years with non-febrile seizures and incidence is 10–20/100,000 of children aged 0–15 years
See also
*
Generalized epilepsy with febrile seizures plus
Generalized epilepsy with febrile seizures plus (GEFS+) is a syndromic autosomal dominant disorder where affected individuals can exhibit numerous epilepsy phenotypes. GEFS+ can persist beyond early childhood (i.e., 6 years of age). GEFS+ is a ...
References
External links
{{Seizures and epilepsy
Channelopathies
Epilepsy types