N eurology O PD Case Conference

January 22,2013

Garcia, Genevieve; Go, Connel;

Gungab, Alexander; Guzman, Don;
Guzman, Raymil; Igtiben,
O U R PATIEN T

R.V.
8 yr old/Female
Birthdate: August 15, 2004
Quezon City
Date of consult/interview: January
19, 2013
Informant: Father
Reliability: Fair (70%)
 BLANK STARES
C H IEF C O M P LA IN T
H istory ofPresent Illness

Known case of Generalized Epilepsy with

Febrile Seizure since 2006:
1 year and 5 months, 1st Febrile Seizure:
Upward rolling of eyeballs, tonic clonic
movement of both extremities, for 4
minutes, (+)LOC, (+) cyanosis on face and
extremities for 6 minutes, temp 38.5C.
Admitted to a local hospital in Negros for
2 days. Discharged stable. No take home
meds.
A> Febrile convulsion
H istory ofPresent Illness

3 months after 1st hospital admission:

Admitted for the 2nd time at a local hospital
in Bacolod due to the recurrence and
increased frequency of the symptoms.

Rx: Phenobarbital (unrecalled dose) non

compliant.
H istory ofPresent Illness
Consult at USTH OPD (2 months
after 2nd hospital admission)
EEG = abnormal
Rx: Phenobarbital was
maintained. Compliant.
Seizure free for 2 years
Frequent and regular follow up at
USTH OPD Pedia Neuro.
 H istory ofPresent Illness
2 years PTC (February 2011)
(+) blank stares with frequent
blinking of eyes, 3-5 seconds.
(-) lip smacking, (-) head bobbing, (-)
tonic clonic movement, (-) fever,
colds, vomiting, (-) LOC, (-) confusion
H istory ofPresent Illness

Followed up at Pedia Neuro (April

2011)
(+) blank stares for a few sec
after <1min of hyperventilation.
A> T/c Absence Seizure.
Phenobarbital continued with
same dosage.
Repeat EEG = abnormal result
 H istory ofPresent Illness
22 months PTC (May 2011)
Still experiences blank stares with
frequent blinking of eyes lasting 3-5
seconds, 2x/day, daily. Stops and returns
to her normal activity after episode.
(-) confusion, (-) LOC, (-)vomiting, (-)
headache
Rx: Phenobarbital was tapered down
Started on Valproic acid.
 H istory ofPresent Illness
21 months PTC (June 2011)
Seizure attack : decreased from >5
to < 3 episodes /day.
Maintained on Valproic acid
250mg/5ml, 5ml BID (27.8mkd)
19 months PTC (August 2011)
Absence seizure episodes noted to
decreased from 2-3 times to none in
a day.
 H istory ofPresent Illness

Day of consult (Saturday, 1/19/13)

Patient is almost seizure free for 2
years.
Compliant with medications.
No new complaints.
Repeat EEG was requested.
Review ofSystem
General: (-)weight loss, (-) headache, (-) fever
Skin: (-) rashes, (-) pruritus, (-) jaundice, (-) cyanosis
HEENT: (-) hearing deficit, (-) hearing tenderness,
(-) aural discharge, (-) sore throat
Respiratory: (-) dyspnea, (-) colds, (-) cough
Cardiovascular: (-) cyanosis, (-) orthopnea, (-) PND
Endocrine: (-) heat or cold intolerance, (-) polyuria,
(-) polydipsia, (-) polyphagia
Neurologic/ Behavioral: (-) seizures, (-) tremors, (-)
convulsions
Hematologic: (-)pallor, (-) easy bruisability, (-)
bleeding tendencies, (-) gum and mucosal bleeding
Past M edicalH istory

(+) Febrile Seizure 2006, 1 year

and 5 months old
(+) Urinary Tract Infection and (+)
Acute Nasopharyngitis - 2007
(+) Acute Tonsillitis
(-)Asthma
(-) Congenital Diseases
(-) PTB
 Fam ily H istory
(+) Hypertension mother, paternal grandmother
(+) DM paternal side
(-) PTB, asthma
(-) Cancer
(-) Seizure disorder
Family Profile
Age Educational Occupatio Health
Attainment n
Father 39 H.S. graduate None Healthy
Mother 42 H.S. graduate Caregiver (+) HTN
Sibling 18/F H.S. graduate None Healthy
1*
Sibling elder - - -
2** /F
Sibling sibling
*Paternal Elder - - -
3**
**Maternal /F
siblings
 PersonalH istory
24-hour food Food / Energy
Quantity (kcal)
recall Breakfast Rice, cup 100
Fried egg, 1 92.5
Good appetite, pc
Suman
63
207.5

picky eater, Chocolate

milk, 1 glass

among Lunch Rice, 1 cup

Ham, 2 pcs
200
91.3

vegetables she Snacks Bread, 1 pc 78.4

Dinner Rice, 1 cup 200
only likes squash Tilapia fish, 1
serving
140

Banana, 1 pc 110
ACI 1282.7kcal
RENI 1500 kcal
%RENI 85.51%
PersonalH istory

Developmental History
2-3 months : (+) social smile,
coos and babbles
11 months : can walk with one
hand held
1 yrs and 5 months: walks well
2 yrs and 3 months: runs well
4-5 years old: toilet trained
PersonalH istory

Behavioral History
Very friendly, sweet and loving.
She used to play a lot requiring a
lot of energy (dancing, jumping)
Hyperactive in class makulit,
mahilig manggigil sa mga
classmates.
Average student, grades at line of
8.
 Im m unization History

Vaccine Date Reaction Place

Unrecalled No reaction Local Health

BCG Center

Unrecalled No reaction Local Health

DTP 1,2,3 Center

Unrecalled No reaction Local Health

OPV 1,2,3 Center

Unrecalled No reaction Local Health

Hepa B 1,2,3 Center

Unrecalles No reaction Local Health

Measles Center
Socioeconom ic and Environm ental
H istory

lives w/ both parents

Bread winner: mother (6,500-
7,500pesos/month)
Apartment, studio type
1 window
(-) factories, (-) second hand smoke, (-)
pets
Drinking water: from local refilling water
station
Garbage collection: daily
 black hair evenly distributed, no
alopecia,no swelling, no deformities, HEAD
no masses, no facial asymmetry, no
abnormal facies
BP 100/70 CR 94, RR 21, Temp. S
36.8 C ANTHROPOMETRIC
Weight 22 kg (z=below -1, N), VITAL SIGNS AND
Height 121 cm (z=below -1, N), BMI
15.0 (z= 0, N)
awake, alert, ambulatory, well- GENERAL
nourished, well hydrated, not irritable,
not in cardiorespiratory distress
(01/19/13)
PhysicalExam ination
 no pre-auricular tags, no aural discharge,

S
no tragal tenderness, non-hyperemic
external auditory canal, intact tympanic
membrane,
EAR
pink palpebral conjunctivae, anicteric
sclerae, transparent cornea, pigmented
iris, no discharge, normal visual field,
intact and full EOM, no discharge, (+)

EYES
ROR
Warm moist skin, good skin turgor, no
jaundice, no rashes, no bruises, no active
dermatoses, no lumbosacral dimpling, no

SKIN
tufts of hair
 Supple neck, thyroid not enlarged, no
palpable cervical lymph nodes
NECK
moist buccal mucosa, no oral lesions,
H
tongue and uvula in midline, tonsils
not enlarged, non hyperemic posterior
pharyngeal wall
MOUT
nasal septum midline, turbinates not
congested, no nasal discharge, no
NOSE
epistaxis
 fat, soft abdomen, no visible pulsations,
N
normoactive bowel sounds, tympanitic on
all quadrants, no hepatosplenomegaly, no
masses, no tenderness
ABDOME
Adynamic precordium, AB at 5th LICS MCL,
no lifts, no thrills, no heaves, S1>S2 at
HEART
apex, S2>S1 at base, no murmurs
symmetrical chest expansion, no
retractions, equal vocal & tactile fremiti,
LUNGS
resonant, clear breath sounds
 pulses full and equal, no EXTREMITIES
cyanosis, no clubbing,
no edema
Grossly female, no Y
discharge, no CVA GENITOURINAR
tenderness
N eurologicalExam ination
(01/19/13)
Conscious, coherent, oriented to time, place and person, GCS 15 (E4V5M6)
Cranial Nerves
CN I no anosmia
CN II visual field intact, pupils 2-3 mm ERTL
CN III, IV, VI full and equal EOM movements, no ptosis
CN V no sensory deficits, (+) corneal refex, clenches teeth tightly
CN VII no facial asymmetry, can puff cheeks, smile, and close eyes tightly
against resistance
CN VIII intact gross hearing
CN IX, X uvula midline, (+) gag refex, no difficulty in swallowing
CN XI shrugs shoulder and turns head against resistance
CN XII tongue midline on protrusion
Cerebellum: able to do FTNT
Motor: 5/5 on all extremities , No pronator drift
Sensory: no sensory deficits
DTRs: ++ on all extremities
Meningeal Signs: (-) Babinski, (-) Kernigs, (-) Nuchal rigidity
 8/ Female
Known case of Generalized
Epilepsy with Febrile
Seizure
Blank Stares, (+) blinking
3-5 sec brief loss of
awareness
(+) blank facial expression
(+) maintained body posture
(-) head bobbing, (-) lip
smacking, (-) chewing
(-) aura, (-) post ictal
2-5 / day
(+) Hyperventilation
EEG: Intermittent
paroxysms of
generalized 3-4 Hz,
300-400 uV sharp and
slow waves
discharges seen
initially post-
hyperventilation and
persisted through out
the awake and sleep
recording
Essentially Normal
Neurological findings
APPRO ACH TO D IAG N O SIS
Symptom, sign, laboratory
finding that points to a
disease.

BLANK STARES
with brief loss of awareness,
no aura nor post-ictal confusion
 D iff
erentialD iagnosis
Absence Seizures (Petit mal) Complex Partial Seizure

Seizures Staring spells/blank stares Staring spells/blank stares

(+) eyelid fickering (+) Cessation activity
(+) Blank facial expression (+) Alteration of consciousness
(+) Cessation activity/speech (+)/(-)automatism : complicated
(+) Brief loss of environmental (e.g. repetitive swallowing,
awareness picking of the hands, walking in
(+)/(-) simple automatism (e.g. non-purposeful circles)
head
bobbing, lip smacking)
(-) lose of body tone
Aura Absent Present
Post-ictal Absent Present
confusion
Duration Last for few seconds (rarely Last several minutes (30s
persists >30s) 2mins)
Frequency/day ~12 Rarely >1 or 2
Provocative Hyperventilation Spontaneously
test Strobe light stimulation
Age of onset 4 to 6 years old, F>M Any age
Neurologic Normal Normal/Abnormal
Exam
Brain Imaging Normal Abnormality in the temporal
lobe (hamartoma,
 D iff
erentialD iagnosis
Absence Seizures (Petit mal) PATIENT (8/Female)

Seizures Staring spells/blank stares Blank Stares

(+) eyelid fickering 3-5 sec brief loss of
(+) Blank facial expression awareness
(+) Cessation activity/speech (+) eyelid blinking/flickering
(+) Brief loss of environmental (+) blank facial expression
awareness (+) maintained body
(+)/(-) simple automatism (e.g. posture
head (-) head bobbing, (-) lip
bobbing, lip smacking) smacking, (-) chewing
(-) lose of body tone
Aura Absent Absent
Post-ictal Absent Absent
confusion
Duration Last for few seconds (rarely 3-5 seconds
persists >30s)
Frequency/day ~12 2-5 / day
Provocative Hyperventilation Hyperventilation
test Strobe light stimulation
Age of onset 4 to 6 years old, F>M 6 years old
Neurologic Normal Normal
Exam
Brain Imaging Normal Not done
EEG Synchronous 3-Hz spike and wave Intermittent paroxysms of
FinalD iagnosis

Absence Seizures (Petit mal)

FinalD iagnosis

Absence Seizures (Petit mal)

Don Philip M. Guzman

D IS C U SS IO N
 ABSEN CE SEIZU RES

aka Petit Mal Seizure, Idiopathic

Nonconvulsive Seizures
age-related idiopathic generalized
epileptic syndrome
Momentary lapses of
conciousness, motor arrest and
some automatisms (lip smacking,
futtering or eyelid blinking,
picking at clothes)
Brief episodes
 TYPES O F ABSEN CE SEIZU RE:

Childhood AS Juvenile AS

Age of onset 4-10 y Age of onset >10 y

(peak 6-7 y), rare (peak 12-13 y/ puberty);
presentations ealier occasional younger
before 2 years old or outliers
later rare occurrence
Strong genetic Absences less frequent
predisposition Most develop GTCS
Females are more Up to 1/3 of pts have
affected (70%) myoclonic jerks
Absences more frequent Polyspikes more
and severe common on EEG
Myoclonia absent or
mild
1-2 3Hz spikes on EEG
ETIO LO GY

Unknown
May have genetic
predisposition (hereditary)
Chromosome 8q24
Mutation in GABA(A) receptor gene GABRB3
(hyperglycosylation in vitro)
GABA(A) receptor y2 subunit (GABRG2) on
chromosome 5q3.1-33.1
ABSEN CE SEIZU RE
EPID EM IO LO GY

generalized idiopathic epilepsies

have age-related onset
more common in children
females>males affected
Childhood absence epilepsy onset is
at age 4-8 years, with peak onset at
age 6-7 years
Juvenile absence epilepsy onset is
generally around puberty
 CLIN ICAL PRESEN TATIO N
Patient H istory:

History of staring spells/blank

stares
To an onlooker, resemble
moments of
absentmindedness or
daydreaming
Behavioral problems
Periods of inattention
Decline in school performance
CLIN ICAL PRESEN TATIO N
Clinicalm anifestations:

When patients has an episode of seizure most common

symptoms are:
Brief confusion
Loss of attention
Loss of awareness
Loss of memory for the episode
No loss of memory for events prior to episode
Fully alert following the episode
Rapid eye blinking
Chewing movements of the jaw
Lip smacking
Fumbling of the hands
Slumping of the shoulders
Falling
CLIN ICAL PRESEN TATIO N :

transient loss of consciousness similar to

other seizure types, but without prominent
convulsive episodes
brief (usually 20 seconds); sudden onset
interrupting ongoing activities
manifestations: brief unconscious
behaviors (automatisms), autonomic
disturbances (i.e., maintenance of heart
rate, pupil function, or sweating), and brief
involuntary muscle twitching (myoclonia)
CLIN ICAL PRESEN TATIO N :

Postural tone may be slightly decreased or

increased, occasionally there is mild
vasomotor disorder

Attacks diminish in frequency in

adolescence and often disappear, only to be
replaced in many instances by major
generalized seizures (GTCS)

Voluntary hyperventilation for 3-4 minutes is

effective way to induce or trigger an attack
LABO RATO RY STU D IES

Lab tests for metabolic abnormalities or

toxic or drug ingestion (especially in older
children) may be indicated
If a clear history of the episodic nature of
the attacks is obtained, EEG can be
diagnostic and laboratory tests may not
be necessary
When evaluating a child with a
developmental delay, or if the EEG reveals
atypical absences, full work-up indicated
Electroencephalography
(EEG )
only diagnostic test for absence
seizures
background activity is normal
a routine awake recording is often
pathognomonic
Bursts of frontally predominant,
generalized 3-Hz(3 per second)
spike-and-wave complexes
Typicalabsence seizures: generalized 3-H z spike-and-
w ave com plexes
Atypical absence seizure: slow spike-and-w ave
paroxysm s,classically 2.5 H z
TREATM EN T

Benign, outgrown, but may be

associated with GTCS
may respond to the following:
Ethosuximide
Valproic acid
Clonazepam
Lamotrigene?
Early onset of absence seizures, quick
response to therapy, normal EEG
background = good prognostic signs
TREATM EN T
M AN AG EM EN T

The remission rate for childhood absence

epilepsy is good; 80% respond to medication
Complete remission rates vary widely,
dependent on the length of follow-up
Children should be monitored closely during
titration or crossover of AEDs (Dose of the
AEDS should be increased weekly until seizures
are controlled or adverse effects develop)
Aim in therapy: control seizures completely
with min. required amt of AED to minimize
adverse effects
M AN AG EM EN T

Liver function test, amylase and/

lipase, CBC, drug levels monitored
during drug treatment to watch for
adverse reactions/toxic levels and
ensure treatment compliance
Injury prevention counseling
especially when swimming,climbing, and
should not be allowed to drive vehicles
nor perform activities that can be
hazardous
REFEREN CES

Pediatric Epilepsy Diagnosis and

Therapy 3rd edition Pellock et.al.
Childhood Epilepsy: Language,
Learning, and Behavioral
Complications Svoboda
Clinical Neurology Clark
Adams and Victors Principles of
Neurology 9th edition Ropper and
Samuels
Nelsons Textbook of Pediatrics 9th
JO U R N A L
Background

Juvenile absence epilepsy (JAE) is a

generalized form of epilepsy,
characterized by absence seizures (AS)
initiated in adolescence
Typical EEG showing generalized spike-
wave discharges
Other seizure types may be observed
such as myoclonia and generalized
tonic-clonic seizures (GTCS)
Long-term prognosis is uncertain
 JAE is a less common entity, much less
known and probably underdiagnosed
Characterised by the appearance of AS
in adolescent patients, where AS are
less frequent and present a lower level
of altered consciousness compared to
CAE.
Few studies have examined the long-
term prognosis of this entity
M aterials and M ethods

Patients:
patients who met the JAE diagnostic criteria by
ILAE from 1989 seen at the Hospital de
Bellvitge and the Hospital de Sant Boi between
2005 and 2008
Methods:
EEGs were performed with electrode placement
according to the international 10/20 system,
including activations by opening/closing eyes,
photic stimulation, hyperventilation and, in
some patients, sleep deprivation
Variables

Clinical variables
Gender, age at onset of AS and GtcS.
Patients were separatedinto two groups
depending on their age at first crisis: (10-
17, 18 years or more)
Therapeutic variables
Use of valproate (VPA), its levels, the
number of drugs used throughout the
disease and the need for combination
therapy, the attempt to withdraw the
treatment and seizure recurrence
Prognostic variables
Crisis-free status, defined as the absence of
crises in the last two years (depending on the
perception of the patient and the family),
presence or absence of drug treatment and
the maximum period without seizures
Statistics
Results were analysed with the statistical
package SPSS 12.0 for Windows. Qualitative
variables were analysed by unilateral chi-
square and continuous variables with the
Student t test and the ANOVA test
Results

21 patients, 17 women and 4 men, 86% of whom

had suffered GTCS and 14% myoclonias
Mean age at AS onset was 17 years old (range
10-44), 4 patients debuted with AS in adulthood.
Mean follow up duration was 25 years (range 10-
43)
Ninety per cent of the patients were treated with
valproate and 62% needed polytherapy.
Currently 43% have achieved seizure freedom
under medical treatment. All attempts to stop
treatment failed, in some cases after long
periods of seizure remission.
Conclusion

JAE is a disease that persists throughout

life which therefore requires indefinite
antiepileptic treatment
Response to treatment in JAE, even with
VPA, is far more modest than in JME and
CAE, with combination therapy being
necessary in many cases
All these results should be confirmed in
larger prospective studies, to make the
right decisions with this group of patients.
TH AN K YO U !