Infantile Epileptic Syndromes Flashcards
Infantile epilepsy syndromes
Febrile seizures - Demographics
Boys slightly (60%) predominate. Prevalence is about 3% of children.
Febrile seizures - Age range of onset
Between 6 months and 5 years of age (peak at 18-22 months)
Infantile epilepsy syndromes
Febrile seizures - Semiology
Simple febrile seizures (70% of all): 1) they occur in neurologically healthy children aged between 6 months and 5 years; 2) the seizures are brief (15 min; 2) repetitive in clusters of two or more within 24 hours; 3) focal at onset or occur in children with perinatal psychomotor deficits.
Febrile seizures - Risk of Febrile fits if + FHx?
Genetic susceptibility to seizures. The risk is 4-5 fold higher children with a family history of febrile seizures
Infantile epilepsy syndromes
Febrile seizures - Differential diagnosis
It is important to differentiate febrile seizures versus seizures with fever occurring in the context of pre-existing Epilepsy.
Infantile epilepsy syndromes
Febrile seizures - Prognosis
Half the children will have a recurrent febrile seizures. Half of those with a second febrile seizure will suffer at least one additional recurrence. Recurrences are more likely when: the first febrile seizure occurs in the first year of life; or is complex or there is a family history of febrile seizures in first degree relatives or there are persistent neurological abnormalities. Overall; children with febrile seizures have a sixfold excess of subsequent non-febrile seizures and Epilepsy (3%). There is a slightly higher chance of developing generalized epilepsy then focal epilepsy. The risk is higher with complex febrile seizures; particularly when all three features are present (prolonged; repetitive and focal seizures). The risk is also higher if there is a history of neurological problems prior to the first seizure; or a family history of epilepsy
Infantile epilepsy syndromes
Febrile seizures - Management
Simple partial seizures do not require a prophylactic treatment; which is reserved for patients with neurological problems; complex febrile seizures; age less than one year; or frequent recurrences. Phenobarbital is more commonly used.
Infantile epilepsy syndromes
Epilepsy with febrile seizures plus - Demographics
This is a term used to denote febrile seizures that start earlier than the classical febrile seizures; are often multiple and continue beyond the age of five years; usually remitting by mid childhood. Both genders are equally effected.
Infantile epilepsy syndromes
Epilepsy with febrile seizures plus - Age range of onset
As a rule; it usually starts six months earlier than the classical febrile seizures; but the age of onset varies considerably between individuals.
Infantile epilepsy syndromes
Epilepsy with febrile seizures plus - Semiology
Heterogeneous clinical phenotypes. Within this spectrum; more severe syndromes are Dravet and Epilepsy with myoclonic astatic seizures.
Infantile epilepsy syndromes
Epilepsy with febrile seizures plus - Etiology
Epilepsy with febrile seizures plus is a genetic disorder with a complex pattern of inheritance. Mutations have been identified in the SCN1A; SCN1B; SCN2A (which encode the alpha1; alpha2 and beta-1 voltage gated sodium channel subunits) and GABRG2 (GABA a receptor delta 2 subunit)
Infantile epilepsy syndromes
Epilepsy with febrile seizures plus - Genetic testing or metabolic screening
Described within the specific sub syndromes
Infantile epilepsy syndromes
Epilepsy with febrile seizures plus - Imaging
Normal
Infantile epilepsy syndromes
Epilepsy with febrile seizures plus - Interictal EEG
Diverse findings which depend on the clinical phenotype. Half of the patients have normal EEGs. The most common abnormality are generalized poly spike wave discharges.
Infantile epilepsy syndromes
Epilepsy with febrile seizures plus - Ictal EEG
Depend on the clinical phenotype
Infantile epilepsy syndromes
Epilepsy with febrile seizures plus - Differential diagnosis
Usually impossible to differentiate initially from classical febrile seizures. The distinguishing features are the persistence of febrile seizures beyond the age of five years; the occurrence of non-febrile seizures and family history.
Infantile epilepsy syndromes
Epilepsy with febrile seizures plus - Prognosis
It was initially considered a benign syndrome; however this is now changed due to the inclusion of Dravet syndrome and Doose syndrome among EFS+
Infantile epilepsy syndromes
Epilepsy with febrile seizures plus - Management
Described under the specific sub syndromes
Infantile epilepsy syndromes
Benign infantile seizures (Watanabe-Vigevano syndrome; Benign Partial Epilepsy of Infancy -BPEI) - Demographics
The familial and nonfamilial forms are identical except for the family history. Boys and girls are equally affected in the sporadic form; but more girls are reported in the familial cases.
Infantile epilepsy syndromes
Benign infantile seizures (Watanabe-Vigevano syndrome; Benign Partial Epilepsy of Infancy -BPEI) - Age range of onset
Age of onset is from 3 to 20 months with a peak at five or six months.
Infantile epilepsy syndromes
Benign infantile seizures (Watanabe-Vigevano syndrome; Benign Partial Epilepsy of Infancy -BPEI) - Semiology
Seizures occur in clusters of 5 to 10 per day for 1 to 3 days and may recur after 1 to 3 months. seizures are focal; predominantly diurnal and brief. Usually impairment of consciousness and mild unilateral clonic convulsions. They may alternate from one side to the other.
Infantile epilepsy syndromes
Benign infantile seizures (Watanabe-Vigevano syndrome; Benign Partial Epilepsy of Infancy -BPEI) - Etiology
In the familial form; linkage has been found two chromosomes 19q; 2q and 16p. There is no relationship with benign neonatal seizures. However; there are some intermediate forms such as benign familial neonatal – infantile seizures; familial infantile convulsions and choreoathetosis and familial hemiplegic migraine with benign infantile seizures (this last one associated with ATP1A2 mutations).
Infantile epilepsy syndromes
Benign infantile seizures (Watanabe-Vigevano syndrome; Benign Partial Epilepsy of Infancy -BPEI) - Genetic testing or metabolic screening
Normal metabolic
Infantile epilepsy syndromes
Benign infantile seizures (Watanabe-Vigevano syndrome; Benign Partial Epilepsy of Infancy -BPEI) - Imaging
Normal
Infantile epilepsy syndromes
Benign infantile seizures (Watanabe-Vigevano syndrome; Benign Partial Epilepsy of Infancy -BPEI) - Interictal EEG
Normal
Infantile epilepsy syndromes
Benign infantile seizures (Watanabe-Vigevano syndrome; Benign Partial Epilepsy of Infancy -BPEI) - Ictal EEG
Focal discharges of fast activity with spikes. Onset may occur from all lobes and may vary within patients.
Infantile epilepsy syndromes
Benign infantile seizures (Watanabe-Vigevano syndrome; Benign Partial Epilepsy of Infancy -BPEI) - Differential diagnosis
Difficult at first in the sporadic form.
Infantile epilepsy syndromes
Benign infantile seizures (Watanabe-Vigevano syndrome; Benign Partial Epilepsy of Infancy -BPEI) - Prognosis
Excellent. Seizures remit within 2 years. No neuropsychological sequela.
Infantile epilepsy syndromes
Benign infantile seizures (Watanabe-Vigevano syndrome; Benign Partial Epilepsy of Infancy -BPEI) - Management
AED treatment is usually very effective. CBZ; VPA or PNB can be used.
Infantile epilepsy syndromes
Myoclonic epilepsy in infancy - Demographics
Probably the earliest form of idiopathic generalized epilepsy syndrome. 1% of all epilepsies starting before the age of three years. Boys are twice as likely to be affected.
Infantile epilepsy syndromes
Myoclonic epilepsy in infancy - Age range of onset
Usually between six months and three years.
Infantile epilepsy syndromes
Myoclonic epilepsy in infancy - Semiology
Myoclonic seizures are the predominant and often the only type of seizures. The upper limbs usually fling upwards and outwards. The jerks are exaggerated by drowsiness and non-rem sleep. Seizures can sometimes be elicited by sounds or by photo sensitivity.
Infantile epilepsy syndromes
Myoclonic epilepsy in infancy - Etiology
The earliest form of IGE.
Infantile epilepsy syndromes
Myoclonic epilepsy in infancy - Genetic testing or metabolic screening
Normal.
Infantile epilepsy syndromes
Myoclonic epilepsy in infancy - Imaging
Normal.
Infantile epilepsy syndromes
Myoclonic epilepsy in infancy - Interictal EEG
Normal. GPSWD are exceptional
Infantile epilepsy syndromes
Myoclonic epilepsy in infancy - Ictal EEG
GPSWD maximal at rolandic and vertex regions.
Infantile epilepsy syndromes
Myoclonic epilepsy in infancy - Differential diagnosis
Hypnagogic jerks and Fejerman syndrome (benign nonepileptic myoclonus)
Infantile epilepsy syndromes
Myoclonic epilepsy in infancy - Prognosis
Remission usually occurs between six months and five years of onset. Psychomotor development is often normal.
Infantile epilepsy syndromes
Myoclonic epilepsy in infancy - Management
Excellent response to a AED treatment. Valproate is the drug of choice.
Infantile epilepsy syndromes
West Syndrome - Demographics
Defined by the unique triad epileptic spasms; gross EEG abnormalities of hypsarrhythmia and psychomotor impairment. Males predominate. 3 to 5 cases per 10000 live births.
Infantile epilepsy syndromes
West Syndrome - Age range of onset
Typically between three and 12 months
Infantile epilepsy syndromes
West Syndrome - Semiology
Spasms are bilateral tonic contractions that are slower than myoclonic jerks and faster than tonic seizures. They start insidiously and eventually group in clusters with increased intensity. Spasms may be flexor (salaam spams); more often flexor-extensor and less frequently extensor. They typically occur during wakefulness. Developmental delay predates the onset of spasms in about two thirds of the cases.
Infantile epilepsy syndromes
West Syndrome - Etiology
The etiology is multiple and diverse. 80% of cases are symptomatic. Tuberous sclerosis is a common cause. Of note – drugs such as the theophylline or histamine receptor antagonists such as ketotifen can induce epileptic spasms and hypsarrhythmia that are entirely reversible upon drug discontinuation.
Infantile epilepsy syndromes
West Syndrome - Genetic testing or metabolic screening
Metabolic screening usually normal. However; in infants with frequent vomiting; lethargy and failure to thrive; one should check: urine and serum amino acids and serum ammonia; organic acid; lactate; pyruvate and liver function tests.
Infantile epilepsy syndromes
West Syndrome - Imaging
Variable. PET is highly sensitive in detecting focal cortical abnormalities in patients with West syndrome.
Infantile epilepsy syndromes
West Syndrome - Interictal EEG
Hypsarhythmia with no recognizable normal rhythms. Some etiologies are associated with typical features: Aicardi syndrome and Lissencephaly have burst suppression; tuberous sclerosis has spike foci with rapid bilateral synchronization.
Infantile epilepsy syndromes
West Syndrome - Ictal EEG
Variable
Infantile epilepsy syndromes
West Syndrome - Differential diagnosis
Typically not a difficult diagnosis
Infantile epilepsy syndromes
West Syndrome - Prognosis
Half of the patients have permanent motor disabilities and two thirds have usually severe cognitive and psychological impairments. Approximately 10% of patients may have normal mental and motor development. Prognosis is largely determined by the causative factor. Idiopathic West syndrome has a significantly better prognosis.
Infantile epilepsy syndromes
West Syndrome - Management
ACTH and vigabatrin are the drugs of choice. However; no treatment has been conclusively shown to improve long-term development. A trial. Of pyridoxine during EEG monitoring is acceptable. Vegas nerve stimulation is not recommended.
Infantile epilepsy syndromes
Dravet syndrome (severe myoclonic epilepsy in infancy) - Demographics
Twice as many boys are affected. Accounts for 3 to 6% of epilepsies starting before the age of three years.
Infantile epilepsy syndromes
Dravet syndrome (severe myoclonic epilepsy in infancy) - Age range of onset
Usually within the first year of life with a peek at five months. It affects previously normal children.
Infantile epilepsy syndromes
Dravet syndrome (severe myoclonic epilepsy in infancy) - Semiology
Most medications are ineffective
Infantile epilepsy syndromes
Dravet syndrome (severe myoclonic epilepsy in infancy) - Etiology
Mostly genetically determined but the mode of inheritance is unknown. De novo mutations of SCN1A are found in a high percentage of patients (35 to 100%). This is the EFS plus gene. However Dravet syndrome is likely to result from the cumulative effects or interaction of a few or several genes of which this is one of the players.
Infantile epilepsy syndromes
Dravet syndrome (severe myoclonic epilepsy in infancy) - Genetic testing or metabolic screening
There is no metabolic abnormality. The SCN1A gene should be tested. An abnormality is strongly supportive but not diagnostic of the syndrome
Infantile epilepsy syndromes
Dravet syndrome (severe myoclonic epilepsy in infancy) - Imaging
Normal
Infantile epilepsy syndromes
Dravet syndrome (severe myoclonic epilepsy in infancy) - Interictal EEG
similar progression to that of the clinical state; from normal to severely abnormal. The background progressively deteriorates with diffuse theta and delta waves. Brief asymmetrical paroxysms of poly spike/ spike–slow-wave discharges (GPSWD) usually dominate the EEG. Focal discharges are also frequent. Photo paroxysmal responses may occur initially.
Infantile epilepsy syndromes
Dravet syndrome (severe myoclonic epilepsy in infancy) - Ictal EEG
Depends on the type of seizure; with focal discharges or GPSWD.
Infantile epilepsy syndromes
Dravet syndrome (severe myoclonic epilepsy in infancy) - Differential diagnosis
The sequence of polymorphic seizures; their resistance to treatment and the progression to mental and neurological deterioration are characteristic of Dravet syndrome. Febrile seizures are the most important differential diagnosis. Paediatricians should maintain a high index of suspicion for Dravet syndrome if febrile seizures are complex; or clonic or precipitated by low fever. The diagnosis is nearly certain if intractable myoclonic jerks or cognitive deterioration appears 1 to 2 years from onset.
Infantile epilepsy syndromes
Dravet syndrome (severe myoclonic epilepsy in infancy) - Prognosis
Severe encephalopathy with marked mental and neurological deficits. Sinister prognosis. Less than 10% preserve communication skills.
Infantile epilepsy syndromes
Dravet syndrome (severe myoclonic epilepsy in infancy) - Management
Mainly intractable. Cbz; phenytoin and lamotrigine are contraindicated.
Infantile epilepsy syndromes
Lennox-Gastaut syndrome - Demographics
It is a childhood epileptic encephalopathy characterized by the triad: 1- polymorphic intractable seizures that are mostly tonic; atonic and atypical absences; 2- cognitive and behavioral abnormalities; 3- EEG with slow generalized spike and waves. Boys are slightly more affected than girls. The prevalence is relatively high – about 5 to 10% of children with seizures.
Infantile epilepsy syndromes
Lennox-Gastaut syndrome - Age range of onset
Between one and seven years; with a peek at 3 to 5 years.