• Epilepsy is recurrent convulsions not associated with fever or acute cerebral damage. Sudden motor, sensory and physical function changes may occur with loss of consciousness or impairment.
• A definite etiology is not found in 80% of cases. This is called idiopathic, cryptogenic, or primary epilepsy. In 20% of the cases, the EEG is corrupted and an organic disorder can be detected, which is called organic, secondary or acquired epilepsy.
• In the first unprovoked nonfebrile seizure, the history should be taken well and the physical examination should be done carefully.
Cranial CT or MRI should be performed. Emergency cranial CT scan is useful in the acute management of seizures. ECG should be performed to exclude long QT and other cardiac dysrhythmias.
• EEG should be performed to evaluate focal abnormalities and to predict seizure recurrence.
Dravet Syndrome
(SERIOUS MYOClONIC EPILEPSY OF CHILDHOOD)
• It is one of the most severe epileptic syndromes of childhood that starts with febrile seizures.
• It usually starts around the age of one. It is characterized by recurrent febrile and afebrile, unilateral clonic seizures every 1-2 months. It is autosomal dominant.
• It usually occurs with de novo mutation, rarely inherited as autosomal dominant.
There is a loss-of-function mutation in the gene encoding SCN1A. 1/3 of the patients have a family history.
• The difference from the usual febrile convulsions is that the seizures are repeated at much longer and more frequent intervals.
• Myoclonus, atypical absences and partial seizures develop from the age of two. This is followed by developmental delay.
• Rapid spike wave activity is seen in EEG.
Partial Seizures
1. Simple Partial Seizure
• There are asynchronous tonic or clonic movements.
• It is mostly seen on the face, neck and extremities. Dizziness, conjugated eye movements are common. There is no automatism and no aura. 10-20 sec. as long as it takes.
• The motor start (Jacksonian) condition, which starts on the face and passes to the arms and then to the legs, can be seen in the form of deviated head and eyes on the contralateral side.
• Consciousness is clear, the patient can speak during the seizure.
• Postictal Todd's palsy may last for a few minutes or hours.
2. Complex Partial Seizure
• It usually starts with the aura.
• After unconsciousness, automatisms begin (chewing, swallowing, smacking, buttoning, muttering). Increased salivation, pupillary dilation and flushing occur.
• It lasts longer (1-2 minutes) than simple partial seizures and absence seizures.
• Postictal automatisms, somnolence, temporary focal weakness deficit (Todd's palsy) or aphasia may be seen.
• EEG has sharp waves and focal spikes in the anterior temporal lobe.
Special Partial Seizures
Benign Rolandic Epilepsy
(Benign partial epilepsy with centrotemporal spike wave activity)
• The first seizures are seen between the ages of 7-9. It may occur due to focal encephalitis and masses.
Mental motor development is normal. Initially, seizures occur during sleep, just after falling asleep, or just before waking up.
• Tonic seizures begin around the mouth and as a gag (Oropharyngeal symptoms) and then the tonic activity spreads. Consciousness can be on or off. History and physical examination are normal. EEG has centrotemporal repetitive spike waves.
• Treatment is started especially in those with recurrent seizures and the drug of choice is carbamazepine. Carbamazepine is used and discontinued for at least 2 years or until 14-16 years of age. The prognosis is very good.
Rasmussen encephalitis
• It is a form of chronic encephalitis. Unilateral persistent partial seizures are seen.
• Progressive hemiparesis on the affected side and progressive atrophy of the contralateral hemisphere.
• Etiology is often unknown. CMV in some cases and anti-NMDA receptor antibodies in others have been blamed for the disease.
Temporal Lobe Epilepsy
• It occurs due to temporal lobe lesions, the most common lesion being mesia/medial temporal sclerosis.
• It usually occurs after febrile convulsions, less often it is genetically caused.
• Atrophy and gliosis are seen in the hippocampus (rarely in the amygdala).
• Epilepsy in adolescents and adults is the most common epilepsy that can be corrected by surgery.
Generalized Seizures
Absence Seizures (Petit Mal)
• It is more common in girls. There is a genetic predisposition. It usually starts between the ages of 5-8, it is not common after the age of 25. Glucose transporter defects should be considered in early-onset ($4 years) absence seizures, glucose is low in CSF.
• Seizures lasting less than 10-20 seconds, characterized by a sudden cessation of motor activity and speech, and brief loss of consciousness, a typical fixed gaze episode. It can happen hundreds of times in a day.
• In the clinic, the patient characteristically loses contact with the environment for a short time. Complex partial seizures are included in the differential diagnosis.
• Falling in school success is an important finding.
• Hyperventilation and light stimulation provoke convulsions.
• The characteristic EEG finding is a frontal lobe localized 3-Hz spike wave.
• Ethosuximide and valproic acid are used in the treatment.
• In most cases, seizures pass before adulthood, and approximately 25% of patients develop generalized tonic-clonic epilepsy.
Generalized Tonic Clonic Seizures (Grand Mal)
• It is the most common form of generalized epilepsy.
• It is not seen in the neonatal period.
• The seizure begins with a very short motor and sensory "aura" period. This prodromal phase begins a few hours before the seizure and sometimes has symptoms such as localized spasm, muscle twitching, restlessness, epigastric discomfort, headache, blunted intelligence. In this way, the patient and his family understand that the motor seizure will begin.
• The onset is sudden, the tonic phase with generalized contractions is associated with loss of consciousness. The corneal reflex disappears, the eye shifts up and to the side. The face becomes misshapen, the glottis closes. The head falls to the side and back. Abdominal and chest muscles tighten. The extremities contract irregularly, as the tonic phase of the seizure continues, facial pallor is replaced by cyanosis. At the end of the tonic phase, which lasts no more than 20-40 seconds, the long clonic phase begins, characterized by rhythmic convulsive spasms. The seizure usually stops within 1-2 minutes.
• There is often incontinence and postictal period.
• Grand mal seizures can occur at night without the patient noticing. The seizure is followed by confusion and ataxia, followed by a period of several hours of deep sleep. There is also a risk of aspiration and injury during seizures.
Benign Generalized Epilepsies
• Petit mal epilepsy
• Bening myoclonic epilepsy of the infant
It starts at the first year of age, has a 3 Hz spike and slow wave, it is difficult to distinguish from severe epilepsy types.
• Febrile seizures
• Juvenile myoclonic epilepsy (Janz syndrome)
It is the most common generalized epilepsy of young adults.
It starts with myoclonic jerks in the mornings in early adolescence, and it can also be seen as generalized tonic-clonic, juvenile absences.
Photophobia is seen.
Generalized 4-5 Hz polyspike-slow waves are seen.
• Photoparoxysmal epilepsy
They are tonic-clonic, absence or myoclonic generalized seizures that occur with light stimulation.
Severe-Malignant Generalized Epilepsies
Infantile Spasm (West Syndrome)
• Usually 2-12. starts in months.
• In males, ARX gene mutations (often with cortical migration anomalies and ambigus genitalia) can cause West syndrome.
• Seizures are characterized by contractions of 2-10 seconds in the neck, trunk and arms.
The onset is a combination of flexion and extension contractions.
• There are three types of contraction (spasm): flexor, extensor and mixed.
Flexor contractions occur in clusters or sequentially and consist of sudden flexion of the neck, arm and leg on the trunk, while Extensor contractions are in the form of extension of the trunk and extremities and
It is the rarest form of infantile spasm.
In mixed infantile contractions, flexion in some attacks and extension in other attacks is the most common type of infantile spasm.
• Contractions occur during sleep (rare) and wakefulness, but tend to occur more often when falling asleep or waking up.
• Contractions in the form of crying attacks by pulling the extremities to the stomach can be confused with "gas colic".
• Attacks can be in the form of laughing and crying attacks.
• Contractions may be followed by relaxation and then relapse, and hundreds of convulsions may be experienced during the day.
• Mental retardation is common.
• While development is normal at the beginning in patients with idiopathic West syndrome, regression is seen in development after the clinic starts to appear.
• More than 3 weeks after diagnosis in idiopathic West syndromes affects the long-term prognosis badly.
Triad of West Syndrome
Myoclonic seizures
Mental retardation
"hypsarrhythmia" and "burst suppression" pattern in EEG
Etiology
• 40% idiopathic
· • 60% secondary to diseases:
- metabolic; Phenylketonuria, biotidinase deficiency, MSUD, isovaleric acidemia, nonketotic hyperglycinemia, pyridoxine dependence, hypoglycemia
- Developmental anomalies
- Neurocutaneous syndromes: Tuberous sclerosis, Sturge-Weber syndrome
- Congenital infections; Toxoplasma, CMV, syphilis
- Encephalopathies; Post-asphyxia, posthemorrhagic, trauma, post-vaccine
Treatment
• ACTH is the most useful drug. Response to ACTH is usually taken within the first 7 days, but if there is no response within 2 weeks, dose or medication change is made. The second choice drug is vigabatrin. Ketogenic diet, clonazepam, valproate, pyridoxine, IVIG can be tried.
Lennox-Gestaut Syndrome
• It begins between the ages of 2-10.
• In some patients, the clinic starts with Ohtahara syndrome, West syndrome progresses and progressively Lennox-Gestaut syndrome occurs.
• Typical triad;
1. Developmental retardation
2. Any type of seizure that recurs during the day or month (atypical absence, myoclonic, tonic, astatic, generalized tonic-clonic and partial seizures).
3. EEG findings (1-2 Hertz slow spike waves are characteristic).
• There is 90% mental retardation.
• Responsible for 70% of treatment-resistant childhood epilepsy.
• Valproate or Lamotrigine treatment is helpful. If it is resistant to anticonvulsants, the ketotic diet may be beneficial. It can be tried on IVIG.
Some Other Worse Generalized Epilepsies
• Early myoclonic infantile encephalopathy
Severe myoclonic seizures occur in the first 2 months of life. It usually occurs secondary to metabolic diseases (non-ketotic hyperglycinemia).
• Ohtahara syndrome (early infantile epileptic encephalopathy)
In the first 2 months of life, tonic seizures caused by brain malformations or syntaxin binding protein 1 mutations occur.
• Myoclonic astatic epilepsy
It is a milder form of Lennox-Gastaut syndrome, with a better prognosis.
• Progressive myoclonic epilepsy
Type 1 (Unverricht-Lundborg disease); It starts in adolescence and progresses very slowly.
There is a cytatin b mutation.
Type 2 (Lafora body disease); It may start in early childhood, but often begins in adolescence and progresses rapidly. Photophobia is seen.
2-3. It results in mortality in the decade. PAS(+) Lafora inclusions are seen in muscle or skin biopsy. There is a laforin and malignant mutation.
• Landau-Kleffner syndrome
Common in men, confused with autism
It is characteristic that the normally speaking child loses the ability to speak
Seizure accompanies 70% of patients. Valproic acid is preferred for treatment.
• Some metabolic diseases
pyridoxine-dependent epilepsy
Neonatal epileptic encephalopathy with pyridoxal phosphate response
Seizures with folinic acid response
Cerebral folate deficiency (Folate level is normal in blood, low in CSF, high-dose folate in treatment)
Tetrahydrobiopterin defect
creatine defect syndrome
Biotinidase deficiency
GLUT-1 deficiency syndrome
Status Epilepticus
• The International Society for Combating Epilepsy has made different definitions for status epilepticus according to the epilepsy type. This definition is based on two times, t1 is the time when treatment should be given, and t2 is the time when neuronal damage is thought to occur. t1=5 minutes, t2>=30 minutes for generalized tonic-clonic seizures, tl=10 minutes for focal seizures,
t2=30 minutes, tl=10-15 minutes for absence seizures, t2=unknown.
• Status epilepticus is most common in children younger than 5 years old. It is the first seizure in 30% of patients presenting with status, and epilepsy develops later in 40%. Febrile status is the most common cause of status epilepticus in children.
• The risk of status epilepticus is higher in encephalitis caused by HSV, EBV, Bartonella, Mycoplasma agents. HHV-6 can cause limbic status epilepticus.
• The fact that the patient is in EEG status without having a seizure is called Nonconvulsive status epilepticus. The patient may present confused, hyperactive with behavioral problems, changes in consciousness, hallucinations, and paranoia.
Treatment
• Continuity of airway and circulation should be ensured.
• The child should be followed and monitored in the intensive care unit.
• If hypoglycemia is detected, 10% dextrose should be given as an IV bolus.
• All drugs should be given intravenously.
• Benzodiazepines are the first-choice drug group as anticonvulsants. Diazepam IV 0.1- 0.3 mg/kg can be given outside the hospital or rectal (0.2-0.5 mg/kg) if there is no IV route. Buccal or nasal midazolam (0.5 mg/kg) is an alternative to rectal diazepam if IVol is not available. Lorazepam is a fast-acting benzodiazepine with equal efficacy but longer duration of action.
• There are many alternative drugs available after diazepam or lorazepam. If seizures are not controlled, phenytoin should be given immediately. After the loading dose, maintenance should be started. Some centers prefer phenobarbital before phenytoin.
• If seizures are not brought under control despite these, alternatives include; diazepam infusion, barbiturate coma, paraldehyde, or general anesthesia.
Midazolam/propofol/thiopental infusion is effective in refractory cases. Valproic acid is also an anticonvulsant that is very effective in many seizure types. Levetracetam can also be used. If autoimmune conditions are considered in the etiology, plasma exchange should be performed.
• A status that does not respond to a benzodiazepine and subsequent drug (phenytoin) is called refractory status epilepticus.
