Neonatal Epileptic Syndromes

Question 1

Neonatal Epileptic Syndromes

Neonatal epileptic seizures - Demography

Answer 1

High in preterm infants. Up to 10%.

Question 2

Neonatal Epileptic Syndromes

Benign familial neonatal seizures - Demography

Answer 2

Rare.

Question 3

Neonatal Epileptic Syndromes

Benign neonatal seizures - Demography

Answer 3

7% of all neonatal seizures

Question 4

Neonatal Epileptic Syndromes

Early myoclonic encephalopathy - Demography

Answer 4

Rare. Boys and Girls are equally effective.

Question 5

Neonatal Epileptic Syndromes

Early infantile epileptic encephalopathy with suppression burst (Ohtahara syndrome) - Demography

Answer 5

Rare. Slight male predominance.

Question 6

Neonatal Epileptic Syndromes

Neonatal epileptic seizures - Age range of onset

Answer 6

80% occur in the first 1 or 2 days during the first week of life.

Question 7

Neonatal Epileptic Syndromes

Benign familial neonatal seizures - Age range of onset

Answer 7

Seizures mainly on the second or third day of life

Question 8

Neonatal Epileptic Syndromes

Benign neonatal seizures - Age range of onset

Answer 8

Usually between days four and six. This syndrome is synonym with fifth day fits. Boys are affected slightly more than girls

Question 9

Neonatal Epileptic Syndromes

Early myoclonic encephalopathy - Age range of onset

Answer 9

Usually starts in the first days of life; sometimes immediately after birth. Majority starts before 10 days of age.

Question 10

Neonatal Epileptic Syndromes

Early infantile epileptic encephalopathy with suppression burst (Ohtahara syndrome) - Age range of onset

Answer 10

Onset is mainly around the first 10 days of life; sometimes within the uterus or up to three months after birth.

Question 11

Neonatal Epileptic Syndromes

Neonatal epileptic seizures - Semiology

Answer 11

Usually subtle; and difficult to recognize from normal behavior patterns. Seizures are brief and repetitive. Frequent autonomic manifestations such as changing heart rate or respiratory rate

Question 12

Neonatal Epileptic Syndromes

Benign familial neonatal seizures - Semiology

Answer 12

Occur in otherwise normal neonates. Seizures are brief – 1-2 min; 20-30/day. Usually start with tonic motor activity; posturing and apnea

Question 13

Neonatal Epileptic Syndromes

Benign neonatal seizures - Semiology

Answer 13

Repetitive lengthy seizure that constitutes a clonic status epilepticus which occurs in a otherwise normal full-term neonate. The median time is about 20 hours. Tonic seizures are incompatible with this syndrome

Question 14

Neonatal Epileptic Syndromes

Early myoclonic encephalopathy - Semiology

Answer 14

Triad of intractable seizures: myoclonus; followed by simple focal seizures; followed later by tonic epileptic spasms. Erratic (shifting from one part of the body to another in the random fashion) myoclonus that are nearly continuous and may affect a finger; corner of the mouth; toe; etc.

Question 15

Neonatal Epileptic Syndromes

Early infantile epileptic encephalopathy with suppression burst (Ohtahara syndrome) - Semiology

Answer 15

Electrical clinical manifestations of tonic spasms and burst suppression patterns during sleep and waking states. Tonic seizures are brief and occur in clusters that can repeat several times a day. Some patients may have focal motor clonic seizures. Myoclonic seizures are rare.

Question 16

Neonatal Epileptic Syndromes

Neonatal epileptic seizures - Etiology

Answer 16

Several possibilities. Hypoxic ischemic encephalopathy accounts for 80% of cases

Question 17

Neonatal Epileptic Syndromes

Benign familial neonatal seizures - Etiology

Answer 17

Autosomal dominant channelopathy with high degree of penetrance. Mutations in the voltage gated potassium channel subunit genes KCNQ2 or KCNQ3. Both form a potassium channel that determines the M – current. Note – mutations in the sodium channel SCN2A are specific to benign familial neonatal – infantile seizures

Question 18

Neonatal Epileptic Syndromes

Benign neonatal seizures - Etiology

Answer 18

Unknown. Zinc deficiency has been postulated

Question 19

Neonatal Epileptic Syndromes

Early myoclonic encephalopathy - Etiology

Answer 19

Multi-factorial disease. Inborn errors of metabolism are the most common causes: non-ketotic hyperglycinemia; propionic aciduria; methylmalonic acidemia; glyceric acidemia; xanthine oxidase deficiency; menkes dz; Zellweger sd.; molybdenium cofactor deficiency.

Question 20

Neonatal Epileptic Syndromes

Early infantile epileptic encephalopathy with suppression burst (Ohtahara syndrome) - Etiology

Answer 20

Malformations of cortical development. Examples are hemimegalencephaly; focal dysplasias; Aicardi syndrome; agenesis of mammillary bodies; olivary dentate dysplasia. There are no familial cases. This syndrome is likely to be the earliest age-related specific epileptic reaction of the developing brain to heterogeneous insults

Question 21

Neonatal Epileptic Syndromes

Neonatal epileptic seizures - Genetic testing or metabolic screening

Answer 21

None

Question 22

Neonatal Epileptic Syndromes

Benign familial neonatal seizures - Genetic testing or metabolic screening

Answer 22

Can be performed; but expensive and not routinely available

Question 23

Neonatal Epileptic Syndromes

Benign neonatal seizures - Genetic testing or metabolic screening

Answer 23

None

Question 24

Neonatal Epileptic Syndromes

Early myoclonic encephalopathy - Genetic testing or metabolic screening

Answer 24

Thorough metabolic screening is mandatory; including serum levels of amino and organic acids and amino acids in the CSF

Question 25

# Neonatal Epileptic Syndromes Early infantile epileptic encephalopathy with suppression burst (Ohtahara syndrome) -  Genetic testing or metabolic screening 

Answer 25

 Metabolic screening is mandatory imaging is normal.

Question 26

# Neonatal Epileptic Syndromes Neonatal epileptic seizures  - Imaging

Answer 26

Variable

Question 27

# Neonatal Epileptic Syndromes Benign familial neonatal seizures  - Imaging

Answer 27

 Normal 

Question 28

# Neonatal Epileptic Syndromes Benign neonatal seizures  - Imaging

Answer 28

 Normal 

Question 29

# Neonatal Epileptic Syndromes Early myoclonic encephalopathy  - Imaging

Answer 29

Normal at onset; with brain atrophy as the disease progresses.

Question 30

# Neonatal Epileptic Syndromes Early infantile epileptic encephalopathy with suppression burst (Ohtahara syndrome) - Imaging

Answer 30

 Usually shows severe abnormalities.

Question 31

# Neonatal Epileptic Syndromes Neonatal epileptic seizures  - Interictal EEG

Answer 31

Spikes are not reliable at this age. Other patterns such as burst suppression; hemispheric asymmetry; or theta – pointu alternans are more helpful 

Question 32

# Neonatal Epileptic Syndromes Benign familial neonatal seizures  - Interictal EEG

Answer 32

 Normal or with discontinuity and multifocal abnormalities; including theta-pointu alternans

Question 33

# Neonatal Epileptic Syndromes Benign neonatal seizures  - Interictal EEG

Answer 33

 Normal or with discontinuity and multifocal abnormalities; including theta-pointu alternans

Question 34

# Neonatal Epileptic Syndromes Early myoclonic encephalopathy  - Interictal EEG

Answer 34

 Repetitive burst suppression pattern without physiological rhythms. The bursts are short and the suppression is long. Later; a hypsarhythmic pattern may appear; but it is replaced again by burst suppression.

Question 35

# Neonatal Epileptic Syndromes Early infantile epileptic encephalopathy with suppression burst (Ohtahara syndrome) - Interictal EEG

Answer 35

 Burst suppression pattern with long bursts (with high amplitude slow waves mixed with spikes) and short suppressions. 

Question 36

# Neonatal Epileptic Syndromes Neonatal epileptic seizures  - Ictal EEG

Answer 36

Repetitive patterns (multiple frequencies). Usually associated with tonic; clonic or subtle seizures. More commonly on Central temporal; central and occipital regions. Only 21% are associated with clinical manifestations (electro clinical dissociation)

Question 37

# Neonatal Epileptic Syndromes Benign familial neonatal seizures  - Ictal EEG

Answer 37

Synchronous and bilateral flattening coinciding with clinical symptoms followed by asymmetrical discharges off epileptiform patterns 

Question 38

# Neonatal Epileptic Syndromes Benign neonatal seizures  - Ictal EEG

Answer 38

Rhythmic spikes or slow waves mainly in the rolandic regions (but may also occur elsewhere) 

Question 39

# Neonatal Epileptic Syndromes Early myoclonic encephalopathy  - Ictal EEG

Answer 39

 The myoclonia do not have an ictal EEG expression and may follow bursts 

Question 40

# Neonatal Epileptic Syndromes Early infantile epileptic encephalopathy with suppression burst (Ohtahara syndrome) - Ictal EEG

Answer 40

 The tonic spasms are concomitant with the burst phase.  The ictal pattern may also occur as a diffuse desynchronization or with a more frequent burst suppression pattern. Hypssarhythmia emerges after 3-6 months; later progressing to the slow spike wave pattern. Tonic seizures during the awake and sleep stages in the early days or weeks of life are almost pathognomonic of Ohtahara syndrome.

Question 41

# Neonatal Epileptic Syndromes Neonatal epileptic seizures  - Differential diagnosis

Answer 41

 As a rule; any suspicious behavior should be investigated by video EEG.

Question 42

# Neonatal Epileptic Syndromes Benign familial neonatal seizures  - Differential diagnosis

Answer 42

 A family history of similar seizures is a prerequisite for the diagnosis 

Question 43

# Neonatal Epileptic Syndromes Benign neonatal seizures  - Differential diagnosis

Answer 43

 This diagnosis can be made only after other causes of neonatal seizures have been excluded 

Question 44

# Neonatal Epileptic Syndromes Early myoclonic encephalopathy  - Differential diagnosis

Answer 44

 Ohtahara syndrome 

Question 45

# Neonatal Epileptic Syndromes Early infantile epileptic encephalopathy with suppression burst (Ohtahara syndrome) - Differential diagnosis

Answer 45

 Early myoclonic encephalopathy 

Question 46

# Neonatal Epileptic Syndromes Neonatal epileptic seizures  - Prognosis

Answer 46

Depends on the underlying cause. 

Question 47

# Neonatal Epileptic Syndromes Benign familial neonatal seizures  - Prognosis

Answer 47

 Seizures usually remit in the first six weeks to six months. 10 to 14% may later develop other types of seizures. Normal psychomotor development. 

Question 48

# Neonatal Epileptic Syndromes Benign neonatal seizures  - Prognosis

Answer 48

 Normal development and no recurrence of seizures 

Question 49

# Neonatal Epileptic Syndromes Early myoclonic encephalopathy  - Prognosis

Answer 49

 Psychomotor developmental abnormalities may occur at the onset of seizures or deteriorate rapidly afterwards. There is hypotonia and hypertonia; deconjugate eye movements and decerebrate posturing with pyramidal signs. Usually patients aren't able to follow objects with their eyes. Dreadful prognosis; with more than half of the patients dying within weeks or months of onset. 

Question 50

# Neonatal Epileptic Syndromes Early infantile epileptic encephalopathy with suppression burst (Ohtahara syndrome) - Prognosis

Answer 50

 Devastating syndrome with high mortality and mobility. 

Question 51

# Neonatal Epileptic Syndromes Neonatal epileptic seizures  - Management

Answer 51

Treatment of the underlying cause. Pharmacological treatment is controversial among specialists. Phenobarbita and phenytoin are the most commonly used drugs. 

Question 52

# Neonatal Epileptic Syndromes Benign familial neonatal seizures  - Management

Answer 52

 There is no consensus. The use of AED does not influence outcome 

Question 53

# Neonatal Epileptic Syndromes Benign neonatal seizures  - Management

Answer 53

Convulsions remit spontaneously without medication 

Question 54

# Neonatal Epileptic Syndromes Early myoclonic encephalopathy  - Management

Answer 54

 There is no effective treatment. ACTH or antiepileptic drugs are of no benefit. A trial with pyridoxine is justifiable

Question 55

# Neonatal Epileptic Syndromes Early infantile epileptic encephalopathy with suppression burst (Ohtahara syndrome) - Management

Answer 55

 There is no effective treatment. ACTH or antiepileptic drugs are of no benefit.