Infantile Epileptic Syndromes Flashcards
1
Q
Infantile epilepsy syndromes
Febrile seizures - Demographics
A
Boys slightly (60%) predominate. Prevalence is about 3% of children.
2
Q
Infantile epilepsy syndromes
Febrile seizures - Age range of onset
A
Between 6 months and 5 years of age (peak at 18–22 months)
3
Q
Infantile epilepsy syndromes
Febrile seizures - Semiology
A
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.
4
Q
Infantile epilepsy syndromes
Febrile seizures - Etiology
A
Genetic susceptibility to seizures. The risk is 4-5 fold higher children with a family history of febrile seizures
5
Q
Infantile epilepsy syndromes
Febrile seizures - Genetic testing or metabolic screening
A
lumbar puncture; particularly in children under 2 years of age with or without meningism that show features of being unwell for a few days; vomiting; drowsiness; petechiae; decreased feeding; complex febrile seizures and; in particular; febrile status epilepticus
6
Q
Infantile epilepsy syndromes
Febrile seizures - Imaging
A
Febrile seizures do not require any investigations if the diagnosis is certain. The EEG and brain imaging are unhelpful and should therefore be discouraged.
7
Q
Infantile epilepsy syndromes
Febrile seizures - Interictal EEG
A
None
8
Q
Infantile epilepsy syndromes
Febrile seizures - Ictal EEG
A
None
9
Q
Infantile epilepsy syndromes
Febrile seizures - Differential diagnosis
A
It is important to differentiate febrile seizures versus seizures with fever occurring in the context of pre-existing Epilepsy.
10
Q
Infantile epilepsy syndromes
Febrile seizures - Prognosis
A
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
11
Q
Infantile epilepsy syndromes
Febrile seizures - Management
A
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.
12
Q
Infantile epilepsy syndromes
Epilepsy with febrile seizures plus - Demographics
A
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.
13
Q
Infantile epilepsy syndromes
Epilepsy with febrile seizures plus - Age range of onset
A
As a rule; it usually starts six months earlier than the classical febrile seizures; but the age of onset varies considerably between individuals.
14
Q
Infantile epilepsy syndromes
Epilepsy with febrile seizures plus - Semiology
A
Heterogeneous clinical phenotypes. Within this spectrum; more severe syndromes are Dravet and Epilepsy with myoclonic astatic seizures.
15
Q
Infantile epilepsy syndromes
Epilepsy with febrile seizures plus - Etiology
A
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)
16
Q
Infantile epilepsy syndromes
Epilepsy with febrile seizures plus - Genetic testing or metabolic screening
A
Described within the specific sub syndromes
17
Q
Infantile epilepsy syndromes
Epilepsy with febrile seizures plus - Imaging
A
Normal
18
Q
Infantile epilepsy syndromes
Epilepsy with febrile seizures plus - Interictal EEG
A
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.
19
Q
Infantile epilepsy syndromes
Epilepsy with febrile seizures plus - Ictal EEG
A
Depend on the clinical phenotype
20
Q
Infantile epilepsy syndromes
Epilepsy with febrile seizures plus - Differential diagnosis
A
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.
21
Q
Infantile epilepsy syndromes
Epilepsy with febrile seizures plus - Prognosis
A
It was initially considered a benign syndrome; however this is now changed due to the inclusion of Dravet syndrome and Doose syndrome among EFS+
22
Q
Infantile epilepsy syndromes
Epilepsy with febrile seizures plus - Management
A
Described under the specific sub syndromes
23
Q
Infantile epilepsy syndromes
Benign infantile seizures (Watanabe-Vigevano syndrome; Benign Partial Epilepsy of Infancy -BPEI) - Demographics
A
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.
24
Q
Infantile epilepsy syndromes
Benign infantile seizures (Watanabe-Vigevano syndrome; Benign Partial Epilepsy of Infancy -BPEI) - Age range of onset
A
Age of onset is from 3 to 20 months with a peak at five or six months.
25
# 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.
26
# 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).
27
# Infantile epilepsy syndromes
Benign infantile seizures (Watanabe-Vigevano syndrome; Benign Partial Epilepsy of Infancy -BPEI) - Genetic testing or metabolic screening
Normal metabolic
28
# Infantile epilepsy syndromes
Benign infantile seizures (Watanabe-Vigevano syndrome; Benign Partial Epilepsy of Infancy -BPEI) - Imaging
Normal
29
# Infantile epilepsy syndromes
Benign infantile seizures (Watanabe-Vigevano syndrome; Benign Partial Epilepsy of Infancy -BPEI) - Interictal EEG
Normal
30
# 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.
31
# Infantile epilepsy syndromes
Benign infantile seizures (Watanabe-Vigevano syndrome; Benign Partial Epilepsy of Infancy -BPEI) - Differential diagnosis
Difficult at first in the sporadic form.
32
# 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.
33
# 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.
34
# 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.
35
# Infantile epilepsy syndromes
Myoclonic epilepsy in infancy - Age range of onset
Usually between six months and three years.
36
# 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.
37
# Infantile epilepsy syndromes
Myoclonic epilepsy in infancy - Etiology
The earliest form of IGE.
38
# Infantile epilepsy syndromes
Myoclonic epilepsy in infancy - Genetic testing or metabolic screening
Normal.
39
# Infantile epilepsy syndromes
Myoclonic epilepsy in infancy - Imaging
Normal.
40
# Infantile epilepsy syndromes
Myoclonic epilepsy in infancy - Interictal EEG
Normal. GPSWD are exceptional
41
# Infantile epilepsy syndromes
Myoclonic epilepsy in infancy - Ictal EEG
GPSWD maximal at rolandic and vertex regions.
42
# Infantile epilepsy syndromes
Myoclonic epilepsy in infancy - Differential diagnosis
Hypnagogic jerks and Fejerman syndrome (benign nonepileptic myoclonus)
43
# Infantile epilepsy syndromes
Myoclonic epilepsy in infancy - Prognosis
Remission usually occurs between six months and five years of onset. Psychomotor development is often normal.
44
# Infantile epilepsy syndromes
Myoclonic epilepsy in infancy - Management
Excellent response to a AED treatment. Valproate is the drug of choice.
45
# 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.
46
# Infantile epilepsy syndromes
West Syndrome - Age range of onset
Typically between three and 12 months
47
# 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.
48
# 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.
49
# 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.
50
# Infantile epilepsy syndromes
West Syndrome - Imaging
Variable. PET is highly sensitive in detecting focal cortical abnormalities in patients with West syndrome.
51
# 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.
52
# Infantile epilepsy syndromes
West Syndrome - Ictal EEG
Variable
53
# Infantile epilepsy syndromes
West Syndrome - Differential diagnosis
Typically not a difficult diagnosis
54
# 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.
55
# 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.
56
# 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.
57
# 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.
58
# Infantile epilepsy syndromes
Dravet syndrome (severe myoclonic epilepsy in infancy) - Semiology
Most medications are ineffective
59
# 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.
60
# 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
61
# Infantile epilepsy syndromes
Dravet syndrome (severe myoclonic epilepsy in infancy) - Imaging
Normal
62
# 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.
63
# Infantile epilepsy syndromes
Dravet syndrome (severe myoclonic epilepsy in infancy) - Ictal EEG
Depends on the type of seizure; with focal discharges or GPSWD.
64
# 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.
65
# 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.
66
# Infantile epilepsy syndromes
Dravet syndrome (severe myoclonic epilepsy in infancy) - Management
Mainly intractable. Cbz; phenytoin and lamotrigine are contraindicated.
67
# 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.
68
# Infantile epilepsy syndromes
Lennox-Gastaut syndrome - Age range of onset
Between one and seven years; with a peek at 3 to 5 years.
69
# Infantile epilepsy syndromes
Lennox-Gastaut syndrome - Semiology
Polymorphic seizures and neuropsychological decline. The most characteristic seizures are tonic; followed by atypical absences and atonic seizures; in this order. Myoclonic seizures are rare. This syndrome may start anew; or arise from West syndrome. Seizures can occur during waking and sleep states.
70
# Infantile epilepsy syndromes
Lennox-Gastaut syndrome - Etiology
Extensive and diverse. Symptomatic cases are more common.
71
# Infantile epilepsy syndromes
Lennox-Gastaut syndrome - Genetic testing or metabolic screening
Similar to West syndrome.
72
# Infantile epilepsy syndromes
Lennox-Gastaut syndrome - Imaging
Two thirds have abnormal MRI.
73
# Infantile epilepsy syndromes
Lennox-Gastaut syndrome - Interictal EEG
Abnormal background is very common. Fragmented and slow posterior dominant rhythm and generalized slowing. Paroxysmal fast rhythms and slow GSWD are common both in the ictal and interictal phases. Multiple focal spikes are also observed. Sleep activates proximal abnormalities.
74
# Infantile epilepsy syndromes
Lennox-Gastaut syndrome - Ictal EEG
Absences are associated with slow GSWD. Tonic seizures are associated with fast paroxysmal activity; which is bilateral; predominating in the anterior regions. Tonic seizures can also be associated with generalized suppression. Atonic attacks occur with generalized GSWD or fast paroxysmal patterns.
75
# Infantile epilepsy syndromes
Lennox-Gastaut syndrome - Differential diagnosis
The main differential problem is with EM – AS syndrome; and many patients may have overlapping features. In EM – AS syndrome; tonic seizures; drop attacks; atypical absences are rare. Moreover developmental abnormalities prior to the onset of seizures is very rare.
76
# Infantile epilepsy syndromes
Lennox-Gastaut syndrome - Prognosis
Usually poor. A patient achieving normal mental and motor development is extremely rare.
77
# Infantile epilepsy syndromes
Lennox-Gastaut syndrome - Management
Usually requires poly therapy. Vagus nerve stimulation is an option. ACTH and corticosteroids can also be tried once.
78
# Infantile epilepsy syndromes
Landau-Kleffner syndrome (acquired epileptic aphasia) - Demographics
Some authors consider LKS as a clinical variant of epileptic encephalopathy with CSWS and that both syndromes are ‘two facets of the same entity'; in which the type of neuropsychological dysfunction depends on the location of inter-ictal foci (frontal in epilepsy with CSWS and temporal in LKS). There is a 2:1 male to female ratio.
79
# Infantile epilepsy syndromes
Landau-Kleffner syndrome (acquired epileptic aphasia) - Age range of onset
Onset is at age 2–8 years (peak at 5–7).
80
# Infantile epilepsy syndromes
Landau-Kleffner syndrome (acquired epileptic aphasia) - Semiology
The first symptom is usually verbal auditory agnosia. Children with LKS become incapable of attributing a semantic value to acoustic signals. it gradually worsens and affects other linguistic functions with impairment of expressive speech; paraphasias; stereotypies; perseverations and phono logical errors. Frequent remissions and exacerbations. Behavioral disorders such as hyperactivity and attention deficit are common. Seizures occur and three quarters of patients that are usually infrequent and of good prognosis. They are mainly nocturnal. Generalized and focal seizures can occur. The severity of seizures is not related to the severity of EEG abnormalities or the severity of language problem
81
# Infantile epilepsy syndromes
Landau-Kleffner syndrome (acquired epileptic aphasia) - Etiology
The etiology is unknown. Probably the result of a functional lesion in the speech cortex with epileptogenesis. Probably a disease of the development of functional networks derailing into an epileptic encephalopathy. Possibly an extreme example of benign childhood seizure susceptibility syndrome.
82
# Infantile epilepsy syndromes
Landau-Kleffner syndrome (acquired epileptic aphasia) - Genetic testing or metabolic screening
Not contributory
83
# Infantile epilepsy syndromes
Landau-Kleffner syndrome (acquired epileptic aphasia) - Imaging
Normal
84
# Infantile epilepsy syndromes
Landau-Kleffner syndrome (acquired epileptic aphasia) - Interictal EEG
Sharp slow wave complexes are often multifocal and bisynchronous
85
# Infantile epilepsy syndromes
Landau-Kleffner syndrome (acquired epileptic aphasia) - Ictal EEG
CSWS can occur; but it is not a prerequisite for diagnosis
86
# Infantile epilepsy syndromes
Landau-Kleffner syndrome (acquired epileptic aphasia) - Differential diagnosis
Frequently misdiagnosed as autism or deafness.
87
# Infantile epilepsy syndromes
Landau-Kleffner syndrome (acquired epileptic aphasia) - Prognosis
Seizures and EEG abnormalities often remit by the age of 15. Language improves after e.g. normalization; half reach normal life but only 10 to 20% of patients achieve complete language improvement. Approximately 50% of patients are left with permanent sequela that can be very severe.
88
# Infantile epilepsy syndromes
Landau-Kleffner syndrome (acquired epileptic aphasia) - Management
Largely empirical. Involves anti-epileptic drugs; corticosteroids (if medications fail to lead to any improvement); ACTH; intravenous immunoglobulins; and surgical procedures. Phenytoin; phenobarbital and carbamazepine should be avoided because they may worsen the EEG discharges. The surgical procedure of choice is multiple subpial intracortical transections.
89
# Infantile epilepsy syndromes
Epileptic encephalopathy with continuous spike wave during sleep. - Demographics
The find by the following triad: 1 – EEG CSWS; 2 – seizures; 3 – neuropsychological impairment. Slight male predominance – 60%.
90
# Infantile epilepsy syndromes
Epileptic encephalopathy with continuous spike wave during sleep. - Age range of onset
Onset of seizures is between two months and 12 years; with a peek at four or five years.
91
# Infantile epilepsy syndromes
Epileptic encephalopathy with continuous spike wave during sleep. - Semiology
Half of the children are normal prior to onset. The other half has some form of cognitive or motor and abnormality. There are 3 stages of evolution- 1- usually nocturnal seizures with unilateral convulsions typically last morning 30 minutes; 2- 1 to 2 years after the first stage. Typically an increase in seizures (with multiple types; except for tonic seizures; which are rare) and deterioration of neuropsychological performance; 3- usually seven years after onset; with remission of seizures and improvement of the EEG.
92
# Infantile epilepsy syndromes
Epileptic encephalopathy with continuous spike wave during sleep. - Etiology
More than a third of patients have structural brain abnormalities.
93
# Infantile epilepsy syndromes
Epileptic encephalopathy with continuous spike wave during sleep. - Genetic testing or metabolic screening
Not contributory
94
# Infantile epilepsy syndromes
Epileptic encephalopathy with continuous spike wave during sleep. - Imaging
Abnormal in at least a third of patients.
95
# Infantile epilepsy syndromes
Epileptic encephalopathy with continuous spike wave during sleep. - Interictal EEG
Focal or multifocal slow spike wave discharges mainly on central temporal and frontal temporal areas. Similar in morphology to the spikes of benign childhood focal seizures. GSWD at 1 to 3 hz are frequent; suggesting bilateral synchrony. Continuous spike in waves doing NREM sleep are the defining EEG pattern of this syndrome. Typically > 85% of NREM sleep.
96
# Infantile epilepsy syndromes
Epileptic encephalopathy with continuous spike wave during sleep. - Ictal EEG
Focal discharges with bilateral synchrony.
97
# Infantile epilepsy syndromes
Epileptic encephalopathy with continuous spike wave during sleep. - Differential diagnosis
LKS. Differently and Lenox Gastaut CSWS is not associated with tonic seizures or EEG fast paroxysms.
98
# Infantile epilepsy syndromes
Epileptic encephalopathy with continuous spike wave during sleep. - Prognosis
Seizures and EEG abnormalities usually abate by mid teens. Neuropsychological improvement usually happens at that age. Less than a quarter of the patients will resume acceptable social and professional levels.
99
# Infantile epilepsy syndromes
Epileptic encephalopathy with continuous spike wave during sleep. - Management
Similar to LKS.
100
# Infantile epilepsy syndromes
Myoclonic encephalopathy in non-progressive disorders - Demographics
Defined by: 1- fixed non progressive encephalopathy; 2- recurrent episodes of myoclonic absence status epilepticus. Twofold female preponderance. Incidence and prevalence are unknown.
101
# Infantile epilepsy syndromes
Myoclonic encephalopathy in non-progressive disorders - Age range of onset
Onset is from day 1 of life to 5 years of age (peak at 12 months).
102
# Infantile epilepsy syndromes
Myoclonic encephalopathy in non-progressive disorders - Semiology
All patients have pre-existing neuropsychological deficits of a fixed encephalopathy characterized by severe axial hypotonia; ataxia; continuous jerky movements; tremor; and severe cognitive and learning abnormalities. The defining seizure manifestation is repetitive and long (sometimes for days) episodes of atypical and subtle myoclonic status epilepticus; consisting of myoclonic jerks and discontinuous absences. Startles with negative myoclonus are also very common.
103
# Infantile epilepsy syndromes
Myoclonic encephalopathy in non-progressive disorders - Etiology
Half of cases suffer from chromosomal disorders; mainly Angelman and 4p syndromes. Around 20% of patients have prenatal brain anoxia–ischaemia or malformations of cortical development. The aetiology is unknown in the remaining cases. Metabolic diseases such as non-ketotic hyper-glycinaemia may present with similar electroclinical features.
104
# Infantile epilepsy syndromes
Myoclonic encephalopathy in non-progressive disorders - Genetic testing or metabolic screening
Usually indicated
105
# Infantile epilepsy syndromes
Myoclonic encephalopathy in non-progressive disorders - Imaging
Variable abnormalities
106
# Infantile epilepsy syndromes
Myoclonic encephalopathy in non-progressive disorders - Interictal EEG
Diffusely slow with focal or multifocal slow waves and spikes
107
# Infantile epilepsy syndromes
Myoclonic encephalopathy in non-progressive disorders - Ictal EEG
Continuous or near continuous bursts of diffuse slow spikes and waves
108
# Infantile epilepsy syndromes
Myoclonic encephalopathy in non-progressive disorders - Differential diagnosis
Other forms of progressive myoclonus epilepsy.
109
# Infantile epilepsy syndromes
Myoclonic encephalopathy in non-progressive disorders - Prognosis
Universally poor.
110
# Infantile epilepsy syndromes
Myoclonic encephalopathy in non-progressive disorders - Management
Benzodiazepines and valproates are often used. ACTH is often needed.
111
# Infantile epilepsy syndromes
Atypical benign partial epilepsy of childhood (APEC) - Demographics
Very rare; probably one out of 100 patients with rolandic epilepsy.
112
# Infantile epilepsy syndromes
Atypical benign partial epilepsy of childhood (APEC) - Age range of onset
Between two and six years.
113
# Infantile epilepsy syndromes
Atypical benign partial epilepsy of childhood (APEC) - Semiology
Normal development before the onset of seizures. All patients have at least two different seizure types: atonic seizures and nocturnal focal rolandic-like seizures.
114
# Infantile epilepsy syndromes
Atypical benign partial epilepsy of childhood (APEC) - Etiology
Probably similar to rolandic epilepsy
115
# Infantile epilepsy syndromes
Atypical benign partial epilepsy of childhood (APEC) - Genetic testing or metabolic screening
Non-contributory
116
# Infantile epilepsy syndromes
Atypical benign partial epilepsy of childhood (APEC) - Imaging
Normal
117
# Infantile epilepsy syndromes
Atypical benign partial epilepsy of childhood (APEC) - Interictal EEG
Centro temporal spikes which are often bilateral. Generalized spikes and waves at 3Hz are frequent.
118
# Infantile epilepsy syndromes
Atypical benign partial epilepsy of childhood (APEC) - Ictal EEG
Unilateral; brief focal atonia corresponds exactly with the single sharp slow wave complex.
119
# Infantile epilepsy syndromes
Atypical benign partial epilepsy of childhood (APEC) - Differential diagnosis
Differently then Lenox Gastaut syndrome There are no tonic seizures. It is different then EM – AS because the paternal focal seizures are similar to Roland seizures and the EEG show central temporal spikes. A similar but reversible clinical EEG condition may be induced by carbamazepine or lamotrigine in a few children with rolandic epilepsy.
120
# Infantile epilepsy syndromes
Atypical benign partial epilepsy of childhood (APEC) - Prognosis
Excellent both regarding seizure remission and cognitive and behavioral development.
121
# Infantile epilepsy syndromes
Atypical benign partial epilepsy of childhood (APEC) - Management
Most medications are ineffective
122
# Infantile epilepsy syndromes
Hypothalamic Epilepsy (gelastic epilepsy with hypothalamic hamartomas) - Demographics
Often involves into a generalized epileptic encephalopathy with seizures and cognitive decline. Boys are twice as likely to be affected. Extremely rare
123
# Infantile epilepsy syndromes
Hypothalamic Epilepsy (gelastic epilepsy with hypothalamic hamartomas) - Age range of onset
Typically begins in the neonatal period or early childhood with the peak at two or three years.
124
# Infantile epilepsy syndromes
Hypothalamic Epilepsy (gelastic epilepsy with hypothalamic hamartomas) - Semiology
Mirthless laughter is the defining inaugural clinical ictal manifestation. Dacrystic (crying) attacks may occur in a minority of patients. More than half of the patients also suffer from other types of seizures such as tonic; tonic clonic or absence. Often there are acquired cognitive and behavioral problems. More than half of the patients also suffer from precocious puberty.
125
# Infantile epilepsy syndromes
Hypothalamic Epilepsy (gelastic epilepsy with hypothalamic hamartomas) - Etiology
All symptoms are due to the hypothalamic hamartoma.
126
# Infantile epilepsy syndromes
Hypothalamic Epilepsy (gelastic epilepsy with hypothalamic hamartomas) - Genetic testing or metabolic screening
Noncontributory
127
# Infantile epilepsy syndromes
Hypothalamic Epilepsy (gelastic epilepsy with hypothalamic hamartomas) - Imaging
Diagnostic
128
# Infantile epilepsy syndromes
Hypothalamic Epilepsy (gelastic epilepsy with hypothalamic hamartomas) - Interictal EEG
Normal or with nonspecific and non-lateralizing episodic abnormalities
129
# Infantile epilepsy syndromes
Hypothalamic Epilepsy (gelastic epilepsy with hypothalamic hamartomas) - Ictal EEG
Typically low-voltage fast rhythms with simultaneous suppression of background
130
# Infantile epilepsy syndromes
Hypothalamic Epilepsy (gelastic epilepsy with hypothalamic hamartomas) - Differential diagnosis
Usually not a difficult diagnosis. There is a genetic syndrome called Palister Hall; which is associated with hamartomas and polydactily (diagnosis through GL13 genetic testing).
131
# Infantile epilepsy syndromes
Hypothalamic Epilepsy (gelastic epilepsy with hypothalamic hamartomas) - Prognosis
Variable - depends on the successful removal of the lesion.
132
# Infantile epilepsy syndromes
Hypothalamic Epilepsy (gelastic epilepsy with hypothalamic hamartomas) - Management
Medical management is usually ineffective. Surgery can be technically difficult but it is highly effective if successful
133
# Infantile epilepsy syndromes
Kozhevnikov–Rasmussen syndrome (Kozhevnikov type 2 syndrome; Rasmussen syndrome) - Demographics
Both genders are equally affected. It is a very rare disease.
134
# Infantile epilepsy syndromes
Kozhevnikov–Rasmussen syndrome (Kozhevnikov type 2 syndrome; Rasmussen syndrome) - Age range of onset
Typically between 1 to 10 years; with median age of six years.
135
# Infantile epilepsy syndromes
Kozhevnikov–Rasmussen syndrome (Kozhevnikov type 2 syndrome; Rasmussen syndrome) - Semiology
Affected children are initially normal. The onset is usually with focal motor seizures and EPC. Half of the cases have a history of a viral infection such as URI or otitis preceding the seizures. There are usually three stages. The first stage is defined by simple motor seizures. The second stage is characterized by worsening of the seizures and progressive unilateral psychomotor deficits. The third stage usually sees the remission of seizures; although patients present with serious your cognitive sequela.
136
# Infantile epilepsy syndromes
Kozhevnikov–Rasmussen syndrome (Kozhevnikov type 2 syndrome; Rasmussen syndrome) - Etiology
Mostly unknown. Nonetheless lateralized chronic encephalitis is the main causative factor. The cause of the encephalitis is not yet known; and may represent an autoimmune process.
137
# Infantile epilepsy syndromes
Kozhevnikov–Rasmussen syndrome (Kozhevnikov type 2 syndrome; Rasmussen syndrome) - Genetic testing or metabolic screening
There are no specific genetic tests. Metabolic screening is normal. Antibodies to glutamate receptor GluR3 are detected in the serum of some; but not all; patients.
138
# Infantile epilepsy syndromes
Kozhevnikov–Rasmussen syndrome (Kozhevnikov type 2 syndrome; Rasmussen syndrome) - Imaging
MRI shows progressive hemiatrophy; usually starting in the temporal insular region.
139
# Infantile epilepsy syndromes
Kozhevnikov–Rasmussen syndrome (Kozhevnikov type 2 syndrome; Rasmussen syndrome) - Interictal EEG
Focal slowing with high amplitude delta; which start in one side and may become bilateral. Disappearance of physiological rhythms in the affected side is a rule. Frequent interictal spike and waves.
140
# Infantile epilepsy syndromes
Kozhevnikov“Rasmussen syndrome (Kozhevnikov type 2 syndrome; Rasmussen syndrome) - Ictal EEG
Usually multifocal areas of onset in one hemisphere; sometimes moving from one side to the other. EPC may not have a EEG correlation.
141
# Infantile epilepsy syndromes
Kozhevnikov Rasmussen syndrome (Kozhevnikov type 2 syndrome; Rasmussen syndrome) - Differential diagnosis
EPC may be present in MELAS; but other disease manifestations are different
142
# Infantile epilepsy syndromes
Kozhevnikov Rasmussen syndrome (Kozhevnikov type 2 syndrome; Rasmussen syndrome) - Prognosis
Long lasting deficits range from mild to severe.
143
# Infantile epilepsy syndromes
Kozhevnikov–Rasmussen syndrome (Kozhevnikov type 2 syndrome; Rasmussen syndrome) - Management
The only effective treatment is hemispherectomy. Limited focal resection is off little lasting benefit.
144
# Infantile epilepsy syndromes
Migrating focal seizures of infancy - Demographics
Less than 50 cases have been reported. Both genders are equally affected.
145
# Infantile epilepsy syndromes
Migrating focal seizures of infancy - Age range of onset
Between first day of life to 7 months (mean 1 month).
146
# Infantile epilepsy syndromes
Migrating focal seizures of infancy - Semiology
Patients are normal prior to the onset of seizures; there no apparent predisposing factors. Seizures have focal motor and autonomic symptoms (such as apnea; cyanosis; flushing; hiccups and sweating); alone or in combination. Typically the seizures get relentlessly worse in frequency; duration and symptomatology.
147
# Infantile epilepsy syndromes
Migrating focal seizures of infancy - Etiology
Largely unknown
148
# Infantile epilepsy syndromes
Migrating focal seizures of infancy - Genetic testing or metabolic screening
Not contributory
149
# Infantile epilepsy syndromes
Migrating focal seizures of infancy - Imaging
Normal
150
# Infantile epilepsy syndromes
Migrating focal seizures of infancy - Interictal EEG
Frequent multifocal spikes
151
# Infantile epilepsy syndromes
Migrating focal seizures of infancy - Ictal EEG
Multiple independent onset sites.
152
# Infantile epilepsy syndromes
Migrating focal seizures of infancy - Differential diagnosis
With other forms of focal epilepsy doing infancy.
153
# Infantile epilepsy syndromes
Migrating focal seizures of infancy - Prognosis
Very poor. Often with death within one year of diagnosis.
154
# Infantile epilepsy syndromes
Migrating focal seizures of infancy - Management
Most treatments are completely ineffective.
155
# Infantile epilepsy syndromes
Hemiconvulsion-hemiplegia epilepsy - Demographics
Dramatic syndrome defined by sudden and prolonged unilateral clonic seizure followed by permanent ipsilateral weakness. The onset is often during a febrile illness. 80% of patients subsequently developed focal epilepsy. The prevalence is decreasing due to improved emergency care for status epilepticus.
156
# Infantile epilepsy syndromes
Hemiconvulsion-hemiplegia epilepsy - Age range of onset
Between five months to four years.
157
# Infantile epilepsy syndromes
Hemiconvulsion-hemiplegia epilepsy - Semiology
Hemiconvulsions occur out of the blue. They can last for hours or days if not appropriately treated. By definition post convulsive flaccid hemiplegia ensues and becomes permanent in more than 80% of cases.
158
# Infantile epilepsy syndromes
Hemiconvulsion-hemiplegia epilepsy - Etiology
The first episode usually happens in the setting of a febrile illness. However; the ideology is not known. Factor V of Leiden has been implicated in some cases.
159
# Infantile epilepsy syndromes
Hemiconvulsion-hemiplegia epilepsy - Genetic testing or metabolic screening
Noncontributory
160
# Infantile epilepsy syndromes
Hemiconvulsion-hemiplegia epilepsy - Imaging
Brain imaging may show swelling in the acute stage.
161
# Infantile epilepsy syndromes
Hemiconvulsion-hemiplegia epilepsy - Interictal EEG
May demonstrate focus slowing
162
# Infantile epilepsy syndromes
Hemiconvulsion-hemiplegia epilepsy - Ictal EEG
Rhythmic high amplitude slow waves intermixed with sharp complexes predominating in the affected hemisphere with posterior emphasis.
163
# Infantile epilepsy syndromes
Hemiconvulsion-hemiplegia epilepsy - Differential diagnosis
The diagnosis is usually not difficult
164
# Infantile epilepsy syndromes
Hemiconvulsion-hemiplegia epilepsy - Prognosis
Depends on the cause and the speed of the effective acute management. Learning disability is probably the rule.
165
# Infantile epilepsy syndromes
Hemiconvulsion-hemiplegia epilepsy - Management
Immediate control of the seizure is a medical emergency as in status epilepticus and should be treated as such. In the chronic stage; hemispherectomy can be considered in difficult cases.
