CASE PRESENTATION

-Vuppu Bhavani
Bhavya, 5 year old, female
Hindu
Resident of Sadashivapet , Medak
district
Informant -Father (reliable)

1.Fever since 3 days
2.Tonic-clonic moments of right hand
since 2 days
3.Weakness- right hand and leg since
birth

Fever-
gradual in onset,
low grade,
intermittent,
not associated with chills and rigors,
no diurnal variations,
no evening rise of temperature.

Tonic-clonic moments of right upper
hand-since two days,
2 3 episodes per day,
Each episode lasting for 5 min,
No h/o loss of consciousness,
No h/o post-ictal confusion,
No h/o tongue bite.
Weakness- right hand and right leg-
since birth.
Left Hand dominance since birth.
Inability to perform daily activities
using right hand.
Non progressive.
No H/O sensory disturbances,
No H/O Involuntary movements,
No diarrhoea,milk intolerance
No h/o vomitings,
No h/o haematuria or oliguria,
No h/o loss of weight,
No h/o of recent vaccination,
No h/o head injury,
No h/o otorrhoea ,
No h/o diplopia.

Similar complaints since birth.
Convulsions occurring at irregular
intervals.
Past convulsions were head nodding,
head drawing inwards, drawing up of
knees, stiffening of neck, crossing arms
across body.
Inability to move right upper and lower
limb present since birth.
No h/o TB, jaundice .
Mother Age at marriage- 22 years.
Non Consanguineous marriage.
Nuclear family.


ANTENATAL HISTORY:
i. Registered case, registered at 5
th

month.
ii. Two doses of TT taken, iron & folic
acid- taken.
iii. No H/O teratogenic drugs.
iv. No H/O fever with rash, DM, HTN.

NATAL HISTORY::
i. Full term,
ii. Normal Vaginal delivery,
iii. Did not cry immediately after birth,
iv. Baby resuscitated with ambu bag,
v. Birth weight 2.5 kg.
POSTNATAL HISTORY:

i. Baby was kept in NICU for three days in
view of birth asphyxia.
ii. Post natal history was normal.
iii. Breast -fed till 6 months.
iv. Top feds started after 6 months.
Immunized up to the date.
BCG scar- present.
Milestones were delayed.
Gross motor milestones:

CAN DO: alternate feet going upstairs.
(corresponds to age of 3 years)
CANNOT DO: alternate feet going
downstairs.
(corresponds to age of 4 years)

Fine motor skills:

CAN DO: can copy cross (corresponds to
age 3 years)
CANNOT DO: cannot copy triangle or
hexagon (correspond to age above 5
years)
Social / adaptive skills:

CAN DO: knows full name and gender
(corresponds to age 3 years)
CANNOT DO: cannot dress and undress
completely without help
(corresponds to age 5 years)
Language skills:

CAN DO : good vocabulary, knows age
and sex (corresponds to age 3 years)
CANNOT DO : cannot tell complete story
(corresponds to age of 4 years)
24 hr recall method:
Required calories : 1400 cal
Intake : 1300 cal
Deficit : 100 cal

Required proteins: 24 grams
intake: 20 grams
deficit: 4 grams
Medical h/o: patient was repeatedly admitted in
hospital for seizures, on medication.
Surgical h/o: not significant.
Contact h/o: not significant.
Vitals:
Afebrile
Pulse: 68/min, normal character , rthym,
force.
Heart rate: 68/min.
Respiratory rate: 23/min.
Blood pressure: 110/80 mm hg.
No pallor, icterus, lymphadenopathy,
cyanosis, edema.



Observed Expected Percentage
Weight
16 kgs 18kgs 90%
Height
110cms 125cms 90%
Head
circumference
47cms 47.5-51 cm Normal

Shape of head- normal
Scalp, hair- normal
Eyes- normal
Ears- normal
Mouth, throat, tongue- normal
Nose- normal
Skin- normal
Genitalia- normal
Neck and spine- normal

Central nervous system examination
HIGHER FUNCTIONS :
Conscious, coherent
Normal memory
Orientation in time , place , person- normal
CRANIAL NERVES:
1st : smell normal
2
nd
: visual acuity, field, color normal
3
rd
: normal
4
th
: normal ocular moments
5
th
: sensation over face normal, mastication muscle normal ,
reflexes normal
6
th
: normal
7
th
: taste ant 2/3
rd
tongue normal, muscles normal
8
th
: hearing , balance normal
9
th,
10th : taste normal, palatal moments normal
11
th
: muscle shrugging normal
12
th
: tongue moments normal

MOTOR SYSTEM EXAMINATION:

Tone: INCREASED TONE, RESISTANCE
TO PASSIVE MOMENTS in right upper
and lower limb
Power: 3/5 in right upper and lower limb
Coordination: abnormal in right upper
and lower limb
No involuntary moments
Bulk: decreased bulk of muscles in right
hand
Gait: hemiplegic gait
Superficial:
Plantar - UPGOING PLANTARS on right
lower limb
Abdominal reflex: normal
Deep tendon reflexes:

Right Left
Biceps Exaggerated normal
Triceps Exaggerated normal
Knee Exaggerated normal
Ankle Exaggerated normal
SENSORY SYSTEM EXAMINATION:

Superficial senses: normal
Deep sensations: normal
Cortical sensations: normal
SIGNS OF MENINGEAL IRRITATION:
Neck stiffness : negative
Kerning sign : negative
Brudzinskis sign : negative
Gait : hemiplegic gait
Autonomic system: normal
Cardiovascular system: S1,S2+, no
murmur.
Respiratory system: BAE +.
Gastrointestianl system: no
organomegaly.
Opthalmology examination: normal limits.
5 yr old Female child
Focal seizures
Hemiparesis (R)
Infantile spasms
Birth asphyxia
Developmental delay
Spastic tone muscles (R)
Decreased power and bulk of muscles (R)
Hemiplegic gait
Up going plantars (R)
Exaggerated deep tendon reflexes (R)
Cerebral palsy
Epileptic disorders
Inherited metabolic diseases
Congenital malformations of brain
Perinatal strokes
Perinatal infections


In favour Against cp Diagnostic
Birth asphyxia
Epilepsy
Developmental
delay
Non-
progresssive
Spastic
hemiplegia
History
Clinical
Radiological
In favour Against Diagnostic
Epilepsy
Since birth
Focal deficit
Spastic
hemiplegia
EEG
Radiological
In favour Against diagnostic
mental retardation,
motor deficits,
developmental
regression,
convulsions
Focal deficit
myopathy,
recurrent emesis,
and
cardiomyopathy
hepatomegaly

Metabolic
tests

In favour Against Diagnostic
Hemiplegia
Focal deficit
Seizures

history Serology
Radiology
In favour Against Diagnostic
Schizencephaly MR
Seizures
Hemiparesis
MRI

Lissencephaly Developmental
delay
Seizure
Hemiplegia
MRI

Hemoglobin - 10.7
W.B.C count - 10,600 cells
Differential count
Nuetrophils - 70%
Eosinophils - 00%
Basophils - 00%
Lymphocytes - 28%
Monocytes - 02%
Platelet count -2.5lakhs/cu.mm
PERIPHERAL SMEAR: Normocytic hypochromic
RBCs
NORMAL RANGE
( 11.5 to 19.5)
(4000-11000)

(31-54%)
(1-6% )
(0-1% )
(35-55%)
(2-8% )
(1.5 4 lakhs)
1st hour: 10 mm (normal value upto 10 mm)
Physical : normal
Biochemical: normal
Microscopic : normal
MRI morphology- in favour of partial
agenesis of corpus callosum with
schizencephaly of left parietal cortex.
Unilateral open-lip schizencephaly
associated with partial agenesis of
corpus callosum.
Inj paracetamol i.m/sos/ 1 ampule
Inj decadron 8 mg/ i.v/ t.id (0.4 mg/kg/day)
Inj monocef 750 mg/i.v/ bd ( 100 mg/kg/day)
Inj amikacin 120 mg/ i.v/ bd ( 15 mg/kg/day)
Physiotherapy


WHAT IS
SCHIZENCEPHALY?

Schizencephaly is the presence of unilateral or bilateral clefts
within the cerebral hemispheres owing to an abnormality of
morphogenesis . The cleft may be fused (closed lip) or unfused
(open lip) and, if unilateral and large, may be confused with a
porencephalic cyst. Not infrequently, the borders of the cleft are
surrounded by abnormal brain, particularly microgyria.
Many patients are severely mentally retarded, with seizures
that are difficult to control, and microcephalic, with spastic
quadriparesis when the clefts are bilateral. Some cases of
bilateral schizencephaly are associated with septo-optic dysplasia
and endocrinologic disorders. Unilateral schizencephaly is a
common cause of congenital hemiparesis.

An MRI scan of the brain is indicated to
determine the location and extent of
structural lesions or associated
congenital malformations; an MRI scan
of the spinal cord is indicated if there
is any question about spinal cord
pathology.
Supportive therapy
Physiotherapy
Several drugs have been used to treat
spasticity, including oral diazepam (0.5-7.5 mg/dose,
BID or QID), baclofen (0.2-2 mg/kg/day, BID or TID) or
dantrolene (0.5-10/kg/day, BID). Small doses of
levodopa (0.5-2 mg/kg/day) can be used to treat
dystonia or DOPA-responsive dystonia. Artane
(trihexyphenidyl, 0.25 mg/day, BID or TID and titrated
upward) is sometimes useful for treating dystonia and
can increase use of the upper extremities and
vocalizations.
Agenesis of corpus callosum involves failure of
growth of the main forebrain commissure. It is
associated with a number of chromosomal
abnormalities, drug ingestion (including
valproate), and a number of syndromes.
Aicardi syndrome is an X-linked dominant
condition in which agenesis of corpus callosum
is associated with infantile spasms, intellectual
impairment, vertebral anomalies and retinal
lacunae.




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