4M Pediatric Neurology:Pediatric Epilepsy Syndrome

Dr. Manny Fernandez | March 13, 2017

MIDTERMS QUIZ 1
Black: slides; blue and italicized: audio; red: important; violet: OT;
green: books/ other references  Epilepsy Syndromes Include:
1) Benign Rolandic Epilepsy
This topic is only applicable in pediatrics, don’t apply it to adults.
2) Neonatal Seizures
DEFINITION OF TERMS
3) Juvenile Myoclonic Epilepsy
 Seizure is an abnormal excessive neuronal discharge 4) Absence Epilepsy
arising from the brain that is capable of causing 5) Infantile Spasms
alteration in function and/or behavior – it is not a 6) Lennox-Gastaut Syndrome
diagnosis but a symptom. So don’t give diagnosis like 7) Febrile Seizures
seizure, generalized tonic convulsion.
 Convulsion is a type of seizure with motor component. 1) BENIGN ROLANDIC EPILEPSY
This pertains to clonic or tonic and again this is not a - Also known as Benign Epilepsy with Centro-
diagnosis Temporal Spikes
 Seizures - Common epilepsy syndrome, often unrecognized
 May be epileptic (unprovoked) or non-epileptic - Onset: 3 to 13 years, peak at about 9-10 years
(provoked or with a trigger) Kung may dahilan yung - Both sexes are affected, with a slight male
seizure, hindi siya epilepsy preponderance
 May be convulsive (T-C) or non-convulsive (absence) - High familial occurrence, presumed to be inherited
 Epilepsy or Seizure Disorder is recurrent unprovoked as autosomal dominant trait
seizures – unlike seizures, this is a diagnosis. Epilepsy is
synonymous with seizure disorder; the key is recurrence CHARACTERISTIC
and unprovoked; this can be a diagnosis  Ito lang naman ang importante dito
 Seizures may occur anytime but frequently nocturnal
EPILEPSY SYNDROMES  May be entirely focal, or focal in onset with secondary
 In the past 30+ years, there have been increasing generalization
awareness that:  Clinically, the child wakes up 2-3 hours after falling
- Certain types of seizures especially in children occur asleep and makes gurgling sounds; facial and lip
in certain age groups twitching follow together with salivation So
- Often with a family history of a similar problem napagkakamalang humihilik; mostly facial presentation
- More or less the same ictal phenomena as well as because the rolandic area just in front of the area of the
the EEG findings brain controlling the face
- With a predictable course and response to
 Consciousness is usually preserved; but lost in those with
medication It is important to know the different type
secondary generalization
of epilepsy syndrome to properly identify treatment
 Episode lasts a few minutes
and prognosis
 Seizure frequency is rare
 These observations have led to the identification of
 Children are otherwise physically, neurologically,
epilepsy syndromes
developmentally and intellectually normal They are
- An epilepsy syndrome just like any other syndrome
normal except that during sleep meron silang seizures
is defined as a cluster of signs and symptoms
customarily occurring together with seizures as its
DIAGNOSIS
major manifestation
 Mainly Clinical
- The recognition of the syndromes has been an
important milestone because many are benign thus  EEG shows characteristic C-T “Rolandic” spikes and are
requiring only a short-term treatment or none at all often activated by sleep; Abnormal discharges in the
- However, some are not so benign that may require Centro-Temporal parts
medication lifelong  Despite the focality (clinical and EEG), neuroimaging is
- An epileptic syndrome is considered benign if it not necessary
follows a favorable course with complete remission
(95%) by adult age, absence of risk of acquired brain PROGNOSIS
damage, and limited interference with the patient’s  Very good
everyday life  Complete remission by 15-16 years
- On the other hand, an epileptic syndrome may be  Because of the brevity, rarity of seizure occurrence and
considered intractable if the seizures and the the benign nature of the disorder, option of no AED
Antiepileptic drugs (AEDs) used interfere with the treatment but still we offer the option to parents
patient’s functioning in his daily activities just  But if frequent, AED may be necessary, but some are
familiarize difference b/n benign and intractable refractory

ROLANDIC SPIKES
This is an EEG finding in Benign Rolandic Epilepsy. Normal EEG
would be your wave like pattern. If you have spikes, then it
corresponds to an abnormal cerebral discharge. The spikes
correspond to the central and temporal area which
corresponds to rolandic epilepsy.
2) NEONATAL SEIZURES (NOT DISCUSSED kay Doc Balud
nalang daw)
- Seizures are the most frequent symptoms of CNS
dysfunction in the newborn, and probably represent
the most common reason for neurological
consultation
- Most newborn seizures are symptomatic (ie,
presence of an underlying etiology); this contrasts to
the majority of seizures seen in the older child and
adults wherein many do not have identifiable
cause(s)
- Thus, neonatal seizures prompt a thorough
investigation for potentially treatable causes
- Most newborn seizures are self-limited and cease
from 3 to 10 days with the stabilization and
resolution of encephalopathy
- Cornerstone of diagnosis is the ability to recognize
the unique character of the seizures as compared to
older age group
- GTC if ever is extremely rare
- “Subtle” Seizures
o Often missed; mimic normal newborn
behavior
o Manifestations: horizontal deviation of the
eyes, repetitive blinking, sucking, chewing,
pedaling, swimming, laughing, apnea
o Repetitive and are almost always in
combination
o EEG recordings do not show any
electrographic correlates; ?Epileptic
o Suggest a serious and diffuse CNS
dysfunction
- Tonic Seizures
o Characterized by generalized tonic
stiffening of the body (release of inhibitory
influence from frontal lobes)
o Predominantly seen in preterm babies
o EEG recordings do not reveal electrographic
correlates; ?epileptic
o Differentiation from opisthotonus and
decerebration as significance is different
- Multifocal Clonic
o Characterized by clonic (jerky) movements
of the limbs, which are migratory, ie, one
limb to another without following any
pattern of spread
o Epileptic, presence of EEG electrographic
correlates
o Indicates diffuse cerebral dysfunction like
HIE and metabolic disturbances
- Focal Clonic Seizures
o Clonic jerking persistently on the same limb
o Almost always due to a focal structural
lesion (eg, infarct, hemorrhage or
contusion) on the contralateral hemisphere
o Epileptic, has EEG correlates
- Myoclonic Seizures
o Rare in the newborn period
o Synchronized jerking of either the arms,
legs or both
o Often due to IEM especially in babies with
depressed level of consciousness
o EEG recordings are not always epileptic
- Etiology of Neonatal Seizures
o Any stress to the newborn brain whether
primary to the CNS or secondary to a
systemic disorder may present with a
4M PEDIATRICS 2: Pediatric Neurology: Pediatric Epilepsy Syndrome
seizure
o Thus, in most cases there is an identifiable
etiology; however a small but significant
group of newborns with seizures, no
specific etiology could be found despite
extensive investigation
o The list of potential causes has become
endless
o Hypoxic-ischemic encephalopathy
(Perinatal Asphyxia)
o CNS infections
 Bacterial and viral meningitis
 TORCH
o Metabolic disorders
 Hypoglycemia
 Hypocalcemia/hypomagnesemia
 Bilirubin encephalopathy
(Kernicterus)
 Drug withdrawal
 IEM
o Intracranial hemorrhage/trauma
o Cerebral dysgenesis
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 TREATMENT
 First Step: ABC’s of Life
 Adequate ventilation and circulatory perfusion
since respiratory abnormalities and changes in
the BP may occur
 May be the consequence of the etiology or from
vigorous AED therapy
 Second Step: Etiology-specific
 Treatment directed to the specific cause
including but not limited to CNS and systemic
infections and metabolic disturbances
 Establish an IV line
 Laboratory investigations (CBC, electrolytes,
sugar, BUN, bilirubin, TORCH titers)
 Lumbar Puncture with CSF examination/culture
 Antibiotics
 Third Step: Anti-convulsant
 Phenobarbital 20 mg/kg IV push, repeat if
persistent
 Phenytoin 20 mg/kg IV slow push, if persistent,
give another 10 mg/kg
 AEDs should be stopped 2 weeks after the last
seizure
 Epilepsy occurs in 30% of neonatal seizures but
continuous AED treatment has not been shown
to prevent its onset, restart only if seizures recur
3) ABSENCE EPILEPSY
- Age-related idiopathic generalized epileptic
syndrome ibig sabihin diffuse yung spikes niya unlike
in rolandic which is focal
- Word Absence means “to be absent”
- Momentary lapses of consciousness and motor
arrest and some automatisms (eyelid blinking or
fluttering, lip smacking)
CHARACTERISTICS
 Episodes are brief (<15 sec) very important itong feature
na ito, may occur a few times to a hundred times a day,
start and stop abruptly so ito yung mga bata na
naglalaro tapos biglang tititgil tapos magprepresent with
automaticity symptoms then for less than 15 seconds
bigla niyang itutuloy yung paglalaro niya
 Two syndromes:
a) Childhood Absence:
 Onset: 6-7 years, rare before 2 years and
never in the newborn
 Girls are more affected, teachers often first
to notice frequent day-dreaming episodes
and learning problems
b) Juvenile Absence
 Onset: Puberty, rare occurrences, more
association with GTC
 Differentiate from absence associated with complex
partial seizures (CPS), (in CPS, attacks are prolonged,
often with an aura and post-ictal behavioral change) so
differential for Absence seizure is CPS
DIAGNOSIS
 Diagnosis relatively easy with hyperventilation; ask the
patient to hyperventilate while tapping the table for 10
minutes, if he has absence epilepsy, patient will have
automaticities and stop tapping the table for few seconds
then itutuloy niya ulit.
 EEG shows characteristic trains of 3 cps spike and wave
discharges
This is the characteristic EEG findings in Absence, there are
three spikes for each second then it will slow then it will reveal
3 cps again. Note: 3 cycles per finding is the diagnostic of
absence
PROGNOSIS
 Very good like rolandic
 Benign disorder, often outgrown, but some may be
associated with generalized tonic (GTC) seizures if
neglected
 Responds well to ethosuximide and valproic acid; DOC
is Valproic Acid
4M PEDIATRICS 2: Pediatric Neurology: Pediatric Epilepsy Syndrome
4) JUVENILE MYOCLONIC EPILEPSY
- Common, frequently unrecognized, genetic
(dominantly transmitted) epilepsy syndrome
- Myoclonic jerks, absence episodes, and GTC
nd
- Begins during the 2 decade of life kaya juvenile
CHARACTERISTICS
 Myoclonic jerks are the dominant manifestations for
example pag inaantok ka pag may naglelecture ganun
yung seizure ng ganitong bata; but are often ignored;
patients are usually regarded as clumsy or nervous
sabihin ng mga parents na clumsy yung bata kasi
nahulog yung baso pero hindi nila alam they are having
myoclonic jerks
 Severe jerks cause patient to fall or drop objects
 Occur more frequently shortly upon awakening
 Triggered by sleep-deprivation, emotional upset, or
alcohol intake
 Absence episodes are frequent so they also manifest
with absence epilepsy, seen also shortly after waking up
 Patient is not brought to MD until the appearance of
GTC
 JME are photosensitive
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 DIAGNOSIS PROGNOSIS
 EEG non-specific epileptiform discharges  depends upon the etiology, some have no etiology; Not
so good because if the etiology is HIV then he has it for
life

TREATMENT
 these medications are only applicable to patients with
infantile spasm whose etiology is not lifetime like
tuberous sclerosis
o ACTH/Prednisone
o Vigabatrin

 Patients are intellectually normal, and except for the

jerks, neurologic examination is normal

PROGNOSIS
 Not very good because medication is limited to valproic
acid only because if you remove the valproic acid, seizure
will resume so you need valproic acid for a lifetime

TREATMENT
 Avoidance of triggering factors is important in the
management
 AED: limited almost exclusively to valproic acid
 JME appears to be a life-long disorder; attempts to
withdraw medication after prolonged seizure-free
periods have been met with relapse
5) INFANTILE SPASMS (WEST SYNDROME)
rd th
- Age-specific occurring between the 3 and 12
month of age; peak: 4-7 mos, almost always <12
mos
- Triad of:
1. infantile spasms
Hypsarrythmia: EEG without pattern is component of this
syndrome
So this is Hypsarrythmia, you can see no specific pattern;
spikes everywhere and abnormal amplitude
6) LENNOX-GASTAUT SYNDROME
- Non-specific
- Triad of:
1. Epilepsy
2. mental retardation
3. EEG pattern of 2½-4½ cps spike & wave
- Often a continuum of Infantile Spasms if an infant
survives after infancy, then the disease is called

4M PEDIATRICS 2: Pediatric Neurology: Pediatric Epilepsy Syndrome

2. hypsarrhythmia (EEG) Lennox-Gestaut
3. mental retardation
 not all infants with this disorder have all CHARACTERISTIC
the components  Mental retardation: Integral component
 Variable seizure types (mixed): Any type of seizure may
CHARACTERISTICS be seen; they are typically frequent but brief that some
 Spasms are highly variable in clinical presentation; most may go unnoticed
are of the flexor variety, some are extensor and a few  Behavioral problems like hyperkinesis, aggressiveness
are mixed and autistic behavior are not uncommon
 Commonly mistaken for Moro response, or “colic”
 Spasms may occur singly or in clusters DIAGNOSIS
 Developmental delay and mental retardation are
frequent, especially those with an etiology this
differentiates normal moro reflex in infants
 Most are with an with identifiable etiology, and most
are associated with perinatal injury (eg, HIE, persistent
metabolic disorders, infections, dysgenesis, etc)
 A search for hypopigmented nevi, characteristic of
Tuberous sclerosis should be made, as this often
presents with IS spasms+ hypopigmented nevi=
tuberosclesoris syndrome which is related to infantile
spasms So the EEG pattern of hypsarrythmia become like this with 2
1/2 – 4 ½ cps spike and wave

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 TREATMENT
 Valproic acid will be the drug of choice (even in other
seizures so if unsure, just give valproic acid) but valproic
acid may result to fulminant hepatitis
o Seizures are difficult to control as they are
resistant to most AED
o Felbamate “drug with promise” but not much
used because of aplastic anemia
o Valproate and topiramate may be tried as
alternative AED
7) FEBRILE SEIZURES
- Febrile seizures (FS) are perhaps one, if not the most
common seizure phenomenon one encounters in
pediatric practice
- FS is defined as any clearly convulsive event
occurring in a child between the ages of 1 month
and 7 years (ILAE) who has a fever but without an
intracranial infection
- Excludes those with a history of a prior non-febrile
seizure so if he had episodes of seizure before even
without fever, then it might be another form of
seizure even if it happens during the succeeding time
during febrile period
- Peak of occurrence is 18 months
- Rare before 5 months and after 5 years
- Why children develop a convulsion with fever is not
known, it is probably due to special sensitivity of
the child’s brain to fever
- The most common event mistaken for FS is Febrile
Syncope:
o Blank stare
o Striking pallor
o Limpness
Febrile syncope is the presence of any of
the three above but without seizure
- Since the pathophysiology of seizure and syncope is
entirely different, FS insists on a primary convulsive
event
- Two types of FS: Febrile vs. Complex Seizures but
has no significance except for consultants making the
life of interns hard
Simple Complex
Duration Few minutes Prolonged >15 min
Type Generalized Focal
Recurrence in same None Recurrent
illness
Prognosis Good??? Worse???
FEBRILE SEIZURE RECURRENCE RATES
If parents will ask if febrile seizures will recur, sey yes
 A third with those with one FS will have a second FS
episode
 Half of those with 2 FS episodes will have a third FS
episode
 However, only <10% will have 3 or more FS episodes
FEATURES THAT PREDICT FEBRILE SEIZURE RECURRENCE
 Height of fever: low-grade fever - higher risk
 Seizure at outset of illness, higher-risk

st
Age of patient: 1 FS <18 months, higher
 Family history of FS: higher recurrence risk
 Attendance in Day-Care: due to increased exposure
 Neurodevelopmentally abnormal children – higher risk
RISK FOR EPILEPSY FOLLOWING FEBRILE SEIZURE

st
Child with 1 FS has 10x the risk of developing epilepsy,
however 10x risk remains a small risk
 Risk for epilepsy after a first FS is 2% to 4% mas
maganda pag sabihin niyo na 96-98% na di mageepilepsy
yung bata
 Concerns about epilepsy are rarely important when one
sees a patient with first FS, except to reassure the
parents that there is a 96% to 98% chance that epilepsy
will not develop
 For an individual child, predicting epilepsy is difficult
 Neither the number nor duration of FS has any effect in
its occurrence
 Prophylactic treatment for recurrence of FS likewise has
no influence in the occurrence of epilepsy
 Majority of children who develop epilepsy after FS do so
after simple FS
RISK OF BRAIN DAMAGE IN FEBRILE SEIZURE
Explain to parents that the event is benign since no adverse
effect in the mental function of the child
 NCPP studied >55,000 children prenatally through age 7
4M PEDIATRICS 2: Pediatric Neurology: Pediatric Epilepsy Syndrome
years
 No difference in intelligence at 7 years unless child is
abnormal prior to the onset of seizures
STOPPING AN ONGOING FEBRILE SEIZURE
 Either diazepam (0.2 mg/kg) or lorazepam (0.1 mg/kg)
given IV effectively stops >85% of FS, given only in
prolonged seizure episode (>10 min)
 If IV access is unavailable, 0.5 mg/kg of liquid injectable
diazepam administered rectally stops >80% of FS
 Parenteral benzodiazepines should be given ONLY to an
actively convulsing patient
INITIAL ASSESSMENT OF FEBRILE SEIZURE
 Diagnosis is usually straightforward
 LP is not always necessary, it depends on the comfort
and experience of the physician, strongly advised in
children <12 months of age
 “Routine” laboratory investigations: little value
 Neuroimaging: no medical value
 EEG: misleading results, not predictive, not necessary
No role in febrile epilepsy
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 TREATMENT DECISIONS IN FEBRILE SEIZURE MINI QUIZ:
 Course of action 1. Also known as Benign Epilepsy with Centro-Temporal
 Do not treat with AED Spikes
 Treat with AED 2. Age-related idiopathic generalized epileptic syndrome
 Risks: No treatment 3. Common, frequently unrecognized, genetic (dominantly
 More seizures transmitted) epilepsy syndrome
 Ill-effects of seizures: Nil 4. Triad of infantile spasms, hypsarrhythmia (EEG) and
 Risks: Treatment mental retardation
 Adverse effects of AED: Multiple and at times 5. Triad of epilepsy, mental retardation and EEG pattern of
serious 2½-4½ cps spike & wave
 Given the benign nature of the problem, no treatment is 6. Any clearly convulsive event occurring in a child between
advised even recurrent ones the ages of 1 month and 7 years (ILAE) who has a fever
but without an intracranial infection
PROPHYLACTIC TREATMENT OF FEBRILE SEIZURES
 Chronic (daily) phenobarbital (5 mg/kg/day) A. Febrile Seizures
 Chronic (daily) valproate (30-60 mg/kg/day) B. Lennox-Gastaut Syndrome
 Intermittent (PRN) rectal diazepam: only during febrile C. Juvenile Myoclonic Epilepsy
illnesses (0.5 mg/kg every 8 hours, max: 10 mg) – most D. West Syndrome
favored E. Absence Epilepsy
 Carbamazepine, phenytoin and other AEDs are F. Benign Rolandic Epilepsy
ineffective
 Intermittent phenobarbital is also ineffective Answers: F, E, C, D, B, A
 Explain to parents that there is no need for prophylactic
medications but is parents insist: 1) Explain the NCPP
result on no harm to child but if parent insist for
treatment 2) Explain that valproic acid is available but
you need to give it everyday until 7 years of age but
explain the child could die of hepatitis, but if parents
insist  3) Offer phenobarbital but explain it can
mentally retard the child by 7 points and is irreversible,
but if parents insist  4) Offer diazepam but explain it
could lead to ADHD but if parent insist  5) Intermittent
rectal diazepam and give it if anticipating febrile phase
and this is the best since side effect is only sedation

4M PEDIATRICS 2: Pediatric Neurology: Pediatric Epilepsy Syndrome

Conclusions (NOT DISCUSSED)
 “Once an epileptic, always an epileptic,” is wrong!
 Many childhood seizure states are benign and
completely remit
 Some are not be that benign, which require long-
term sometimes lifelong medication
 The correct identification of the seizure type and
syndrome will certainly limit treatment decisions
 Treatment decisions must include the parents and
the patients when appropriate
 For the benign and self-limited pediatric epilepsy
syndromes, some do not require treatment, and in
those treated with AED, the AED should be
discontinued early, and certainly potentially
teratogenic agents should be avoided in women in
the child-bearing age

Notetakers: CASTRO, Allan | GALISTE, Niña

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