OVERVIEW
一种自限性癫痫综合征，主要发生在3至14岁的儿童
主要表现为短暂的口、面、咽部肌肉抽搐、言语障碍、流口水，偶尔出现局部肢体或全身抽搐。大多数患儿仅在睡眠中发作
确切原因尚不清楚，可能与遗传、环境因素有关
大部分患儿预后良好，症状通常会在青春期自行消退
Definition.
Benign childhood epilepsy with central temporal spikes (BCECTS), also known as Rolandic epilepsy or benign epilepsy with central temporal spikes.
The term “benign” is used because the disease usually does not cause intellectual disability or other neurological damage. However, the term “benign” is no longer used in the medical community because of the presence of other disorders in some patients. The current standardized term is self-limited epilepsy with central temporal spikes (SelECTS).
It is usually seen in children between the ages of 3 and 14 years and is characterized by seizures that usually occur during sleep. It manifests as seconds-long episodes of twitching or numbness of the face or mouth, sometimes spreading to the ipsilateral arm or leg.
The child has a characteristic electroencephalogram (EEG) examination that often shows characteristic central temporal lobe spikes or rolandic spikes that occur during sleep. These spikes are concentrated in the central temporal region of the brain and represent abnormal electrical activity in the brain. However, the child’s neurologic examination, cognitive functioning, and imaging show no abnormalities.
Over time, children with the disease usually experience a gradual decrease in symptoms, and the frequency and severity of seizures usually decrease, resolving on their own by adolescence or early adulthood. In most cases, no treatment is needed, and antiepileptic drugs may be given to a few children whose seizures are frequent or interfere with daily life.
Morbidity
It is the most common form of self-limited focal epilepsy, accounting for about 6% to 7% of all childhood epilepsies.
The annual incidence is about 6.1 per 100,000 children under 16 years of age.
The age range of onset is 3 to 13 years in 90% of patients, with 90% clustered between the ages of 4 and 10 years, and the peak age of onset is 7 years.
There are slightly more males than females, with a male-to-female ratio of about 3:2.
Children usually have normal growth and development, and 5% to 15% have a history of febrile convulsions.
Causes
Causes
The exact cause of the disease is not fully understood and may be related to genetic factors, developmental factors, neurotransmitters, and environmental factors.
The disease usually runs in families, and the GRIN2A gene, which is involved in regulating calcium channels in the brain, may be important in the development of the disease. Siblings of affected children may show similar EEG abnormalities without seizures.
The disease may also be related to the developmental maturity of the brain. The central temporal region of the brain is the source of seizures in this disease and is also a rapidly developing brain region during childhood. If this region develops or matures abnormally, it is possible that it may increase the risk of developing this disease.
Neurotransmitters are chemicals that transmit signals between nerve cells, and an imbalance in neurotransmitter function may result in abnormal electrical activity in the brain, which can lead to seizures. And exposure to certain toxins or infections during early childhood development may also increase the risk of developing the disease.
Symptoms
Main Symptoms
Children with the disease may experience abnormal sensations, twitching of the muscles of the mouth and face, speech disorders, drooling (salivation), and in rare cases, grand mal seizures.
Seizures are short-lived, usually less than 2 to 3 minutes, and are few and sporadic, with most children having fewer than 10 seizures in their lifetime, with frequent seizures occurring for days or weeks before returning at intervals of several months.
Sensory abnormalities
Sensory abnormalities are one of the most common symptoms of the disease.
Patients may experience tingling, numbness, or burning sensations on the lips, tongue, gums, and inside of the cheeks (inside the mouth).
These sensations may occur on one or both sides of the face and may extend to the arm or leg on the same side.
The abnormal sensations usually last a few seconds and may occur multiple times a day.
Orofacial muscle twitching
Involuntary twitching and stiffening of the muscles of the face, tongue or jaw may occur.
Tonic or clonic contractions of one side of the face, mouth and tongue in particular, which then involve one side of the face
Usually occurs on one side of the face, mouth, and tongue, resulting in drooping of the mouth, eyelids, salivation (drooling), or difficulty speaking.
As with sensory abnormalities, muscle twitching in the mouth and face is usually brief and does not cause any serious injury.
Speech disorders
During or after an attack, children may have difficulty speaking and slurring their words, but can understand what is said to them.
Salivation (drooling)
The cause is unknown and may be related to involuntary twitching of the muscles of the face and mouth or an abnormally high level of salivary secretion that interferes with salivary swallowing.
Grand mal seizures
Rarely, this can evolve from a limb convulsion to a grand mal seizure, also known as a generalized tonic clonic seizure. The child experiences loss of consciousness, convulsions and muscle rigidity.
Grand mal seizures may be followed by brief weakness of the limbs (Todd’s palsy).
Medical Treatment
Department of Medicine
Neurology
When symptoms such as seizures and sensory abnormalities occur, prompt medical attention is recommended in neurology, pediatrics, and especially pediatric neurology.
Preparation
Preparing for your visit: registering, preparing your documents, and frequently asked questions.
Preparation checklist
症状清单
Pay special attention to the time of onset of symptoms, special behavior, etc.
Are there any sensory abnormalities? Is it accompanied by hallucinations of taste, fear, etc.?
Is the convulsion generalized or localized? How is the twitching of the limbs?
Are there any oral or facial movements? Is there any speech disorder? Is there salivation?
Are there any upturned eyes, clenched teeth, or salivation at the corners of the mouth during the seizure?
Is there any impaired movement of the limbs after the seizure?
Is this the first seizure? How many times did the seizure occur? When was the last seizure? Was there a trigger before the seizure?
Were the seizures during waking hours or during sleep? How long after sleep?
病史清单
Has there been a family history of similar patients?
Does the child have a history of other brain trauma or illness?
Has the child had any recent manifestations of infection such as fever, cough, vomiting, or diarrhea?
Are there any external stimuli such as electrolyte disturbances, sleep deprivation, poor diet, hyperventilation, excessive water intake, etc.?
What was the mother’s condition during pregnancy? Was there any birth injury or asphyxia?
Is there any history of severe jaundice, brain injury, craniocerebral developmental abnormalities, or febrile convulsions after birth? Is growth and development normal?
检查清单
Examination results in the last six months, which can be brought to the doctor’s office
Imaging tests: cranial CT, cranial MRI, EEG, etc.
Laboratory tests: blood, urine, stool routine, blood biochemistry, cerebrospinal fluid examination.
用药清单
Medication use in the last 3 months, if available, bring the box or package with you to the doctor’s appointment
Traditional antiepileptic drugs: carbamazepine, sodium valproate, phenytoin sodium, phenobarbital, etc.
Newer antiepileptic drugs: levetiracetam, lamotrigine, topiramate, oxcarbazepine, etc.
Diagnosis
Diagnosis is based on
Medical history
The child may have a family history of the disease.
The child may have a previous history of similar seizures or a history of febrile convulsions.
Clinical manifestations
症状
The main manifestations are transient twitching and numbness of the muscles of the mouth, face, and pharynx during sleep, impaired speech, drooling, and localized limb or generalized convulsions.
体征
Doctors check the patient’s limb muscle strength and muscle tone, whether sensation is abnormal, whether ataxia, etc., and check the video of the patient during the seizure.
Laboratory Tests
实验室检查
Including liver and kidney function, cardiac enzymes, blood routine, electrolytes, blood gas analysis, and blood drug concentration.
The purpose is to assess the systemic condition and detect liver and kidney function impairment, electrolyte abnormality, etc.
During the course of treatment, some of the items may need to be reviewed periodically in order to assess the effect of treatment, as well as to monitor the physical condition and adjust the treatment program.
影像学检查
This includes cranial MRI examination, CT examination. There are no abnormalities in the brain structure of children with this disease, mainly to exclude hippocampal asymmetry, white matter abnormalities, enlarged lateral ventricles, focal cortical dysplasia, ectopic, brain tumors and other lesions.
Note: Patients wearing metal dentures, having cardiac stents, pacemakers, and other metal objects in their bodies should consult with their doctor before the examination to determine whether the examination can be performed.
脑电图检查
EEG is an important test to confirm the diagnosis of the disease.
Typical spikes can be found in the central temporal region, with wide waveforms and high amplitude (100-300 μV), mostly biphasic or triphasic waves, alone or in clusters, unilateral or bilateral, etc.
基因检测
For children with insufficient clinical evidence but high suspicion of the disease, the detection of specific genetic manifestations can help to confirm the diagnosis. For example, GRIN2A gene mutation.
Differential diagnosis
Nocturnal frontal lobe epilepsy
Similarities: Seizures usually occur during sleep and may be characterized by orofacial movements such as chewing or lip smacking.
Differences: Nocturnal frontal lobe seizures are more frequent, can present with more complex motor behavior, and can lead to severe impairment of daily functioning. An EEG shows that the seizure waves originate in the frontal lobe of the brain, and most require ongoing treatment with antiepileptic drugs.
Migraine with aura
Similarities: Both can cause abnormal sensations, tingling or numbness in the face or extremities.
Difference: Migraines with aura have headache symptoms. There are usually no facial or mouth twitches or motor symptoms. Attacks are not limited to nighttime and are often triggered by factors such as stress, lack of sleep, or certain foods, and there are no significant EEG abnormalities.
Tourette’s syndrome
Similarities: Both have a childhood onset and resolve spontaneously in adolescence, and may present with orofacial tics or convulsions.
Differences: Children with Tourette’s syndrome have more frequent and varied tics, and the EEG is not abnormal.
Treatment
Aims of treatment: Symptomatic treatment and improvement of quality of life.
Treatment principle: Most children do not need treatment; a few children with frequent seizures can use antiepileptic drugs.
Medication
Drug selection
The first-line drugs are lamotrigine, levetiracetam, carbamazepine, oxcarbazepine, sodium valproate.
If first-line medication is ineffective or not tolerated, the addition of carbamazepine, clobazam, gabapentin, lamotrigine, levetiracetam, oxcarbazepine, valproate, or topiramate may be considered.
Treatment with medications such as phenobarbital, phenytoin sodium, zonisamide, pregabalin, tegabalin, aminocaproic acid, eslicarbazepine, lacosamide, and pirempanel may also be considered.
Commonly used drugs
Only some of the most commonly used drugs are described below:
Lamotrigine: commonly used to treat partial seizures and effective for BCECTS. Side effects may include rash, dizziness and headache. Rarely, it can cause a severe skin reaction called Stevens-Johnson syndrome.
Levetiracetam: More commonly used, it may work by reducing abnormal activity in the brain, effectively controlling seizures. Common side effects may be dizziness, fatigue and mood changes such as irritability or depression.
Carbamazepine, Oxcarbazepine: commonly used to treat partial seizures and also effective in BCECTS. Side effects may include dizziness, drowsiness and gastrointestinal problems such as constipation or diarrhea.
Zonisamide: commonly used to treat absence seizures and also effective in controlling seizures in people with BCECTS. Side effects may include dizziness, fatigue, and gastrointestinal problems such as nausea and vomiting.
Prognosis
Cure.
The majority of children experience spontaneous remission during adolescence, but in a few cases it can last until the age of 18, and the prognosis is usually good.
Most children stop having seizures by adolescence and have normal cognitive and intellectual development.
Seizures respond well to antiepileptic drugs, and even initially difficult to control seizures eventually resolve well.
Hazards.
Although the disease does not affect cause persistent, long-term neurologic impairment, it can still have a negative impact on the child.
The child may experience shame, anxiety, depression, and low self-esteem as a result of seizures, medical treatment, and medication side effects, which can affect productive life, schooling, and socialization.
These problems usually improve or disappear with age, and the child has good social behavior as an adult.
Daily
Daily management
There are no special dietary restrictions for children with this disease. A regular, balanced and nutritious diet is sufficient.
Do not drink alcohol, do not smoke, and avoid large amounts of foods and beverages that affect nerve excitability, such as strong tea and coffee.
Avoid overexertion, maintain a regular work schedule and get enough sleep.
Exercise regularly, maintain emotional stability, and pay attention to the mental health of the child.
Disease monitoring
Parents and children should monitor the frequency of seizures, changes in symptoms, and side effects of antiepileptic drugs.
Follow-up
Doctors may recommend regular follow-up visits, usually every 3 to 6 months, to monitor the patient’s seizure activity and treatment progress.
Review of blood tests, long-duration electroencephalograms (EEGs) and magnetic resonance imaging (MRIs) of the head may be an option depending on changes in condition.
Prevention.
The cause of the disease is unknown and there is no way to completely eliminate seizures. The following measures may help reduce the risk of seizures and improve the quality of life for children with the condition.
Maintain a healthy lifestyle, including a balanced diet, regular exercise and adequate sleep.
Some children may have specific triggers, such as stress or sleep deprivation. Parents should identify these triggers and take steps to avoid them.
It is important that patients taking antiepileptic medications follow their doctor’s regimen and do not change or stop their medications without authorization.
People with a family history of the disease can be genetically counseled about the risk of developing the disease.
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