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Dr. Shubhra Prakash PaulMD (Ped.) Part III
Bangladesh Institute of Child Health
Name Ahian
Age 1year 8months
Sex Male
Residence Shahjahanpur, Badda
Date of Admission 27/05/2017
Date of Examination 02/6/2017
Informant Mother
Particulars of the Patient
• Increased frequency of convulsion for 3 days
• No neck control till date
• Stiffness of all 4 limbs from 3rd month
Presenting Complaints
According to the statement of informantmother, her child was delivered normallyat term at a clinic following home trialand prolonged labor. Baby cried about 30minutes after birth. Then there developedconvulsion within few hours of birth. Withthese complaints she admitted her childin a local hospital and discharged aftercontrol of convulsion with syp.Phenobarbitone.
History of Present Illness
The baby was relatively stable up to 3months of his age. Then he developedrepeated convulsion, which was suddenjerky contraction of neck, trunk andextremities, more in awakening, occurring8-10 times a day, persisting for 2-3minutes in each episode. She also noticedthat her child had not achieved neckcontrol yet and stiffness of all limbs from3 months of age.
History of Present Illness (contd. ..)
For these complaints the baby was onoral drugs and under regular follow up atneuro-disability clinic of a tertiary levelhospital. For last three days Ahiandeveloped high grade intermittent feverwhich subsided after taking antipyretics.The frequency of convulsion increased up14-16 times a day. As the number ofconvulsion increased they admitted himfor further evaluation and management.
History of Present Illness (contd. ..)
There is no significant past illness.History of Past Illness
He had no history of neonatal jaundice or any sib death.
History of Present Illness (contd. ..)
Birth History
Antenatal
Mother was on irregular antenatal
checkup. There was no history of
maternal fever with rash, jaundice,
Urinary Tract Infection, PROM, PIH or
GDM. Her blood group was A positive.
Birth History
NatalAhian was delivered normally at a
clinic following failed home trial. He
cried 30 minutes after birth and
developed generalized convulsion
for which he was admitted in a
SCABU of a local hospital.
Birth History (contd..)
Postnatal
Ahian stayed 7 days at that hospital,
then discharged after control of
convulsion. He passed meconium
and voided urine on 1st day.
Feeding History
After birth, during hospitalization Ahian
was on IV fluid and N/G tube feeding for
first 4-5days. Then breastfeeding was
started and continued up to 9 months of
age, followed by complementary family
food.
Immunization History
Immunization is ongoing as per EPI
Schedule.
Milestone of Development
Social smile present and can
recognize mother but no interaction.
No neck control achieved.
No babbling , only crying sound.
Treatment History
During infancy he was treated with oral
phenobarbitone after discharge from
hospital.
He was receiving Syp. Levetiracetam,
Syp. Valproate and Syp. Carbamazepine
as prescribed by the outpatient dept. of
neuro-disability clinic prior to admission.
After admission anti epileptic drugs were
continued and some injectable antibiotics
were added.
Family History
He is the third issue of his non-
consanguineous parents. Other sibs and
family members are healthy.
Socioeconomic History
His father is a automotive driver and his
monthly income is about tk. 20,000/-. His
mother is a housewife.
Ahian, 1yr 8 months old male infant
Physical Examination
General ExaminationAppearance Alert, playful, no facial
asymmetry
Anemia Mildly pale.
Jaundice Present.
Cyanosis
Edema
Dehydration Absent
Koilonychia
Leukonychia
General Examination (contd.)
Skin Survey BCG mark Present
Lymph nodes Not palpable
E.N.T. Normal
Fontanelle Closed
Sign of Meningeal irritation
Absent
Physical Examination (contd.)
Physical Examination (contd…)
General Examination (contd.)
VitalsPulse 110/min.
BP 80/55 mm of Hg (50th
centile)
Resp. Rate 20/min.
Temperature 990F
Physical Examination (contd…)
General Examination (contd.)
AnthropometryLength 78 cm
Weight 9.5 kg
OFC 41 cm (-) 3SD
Weight for Age SD
Length for Age SD
Weight for
Length
SD
Systemic Examination
Examination of Nervous System
Higher psychic functionConscious but no interaction to the
surroundings
Cranial nerves examination Pupil was normal in size and shape,
reacting to bright light and eye moves in
in all direction
Light Reflex : Normal in both eye
Fundoscopy : Normal
Systemic Examination
Examination of Nervous System
Cranial nerves examination (contd.)No facial asymmetry
No drooling
Normal sucking and swallowing
Systemic Examination
Examination of Nervous System (contd…)
Motor FunctionMuscle bulk Normal in all 4 limbs
Muscle tone Increased in all 4 limbs, more
in upper limbs
Muscle
power
3/5 in all 4 limbs
Jerks Exaggerated in all 4 limbs
Plantar Bilaterally extensor
Ankle clonus Present(Bilateral )
Systemic Examination
Examination of Nervous System (contd…)
Systemic Examination
Examination of Nervous System (contd…)
Systemic Examination
Examination of Nervous System (contd…)
Involuntary movement : Absent
Sensory function : Intact
Neurodevelopmental assessment
Gross motorPull to sit Head lag present
Prone position Chin could not lift
Fine motorCould not hold object even placed in
hand and occasional fisting and release
of hand
Systemic Examination
Neurodevelopmental assessment (contd..)
Vision Fix and follow bright light
Hearing Alert on rattle sound
Speech No babbling, crying only
Cognition No social smile
Could recognize mother’s lap,
touch and voice
Developmental age corresponds to
3 months
Systemic Examination
Examination of other systems including
respiratory system revealed normal
findings.
Ahian, a 1 year 8 months olddevelopmentally delayed male child 3rd
issue of non-consanguineous parentspresented with the complaints of discretemyoclonic seizures with no neck controltill date and stiffness of all limbs from 3months of age. He had a history ofperinatal asphyxia with HIE II. He had nohistory of neonatal jaundice, sib death orany significant maternal illness duringpregnancy .
Salient Features
He was not interested to thesurroundings, having microcephaly andmild pallor. Vitals were normal. He wasmildly under weight and stunted. He hadhypertonia, hyperreflexia, bilateralplantar extensor with ankle clonuspresent. Developmentally he correspondsto below 3 months, with impairment ofvision and hearing.
Salient Features (contd.)
Spastic quadriplegia with motor, cognition delay with vision and hearing impairment with microcephaly with epilepsy.
Provisional Diagnosis
• Neurometabolic disease
Differential Diagnosis
Complete Blood Count (28/05/2017)
Hemoglobin 8.1 gm/dL
Total count of WBC 3,100 /cu mm
Diff. count of WBC
N - 50% L –44%
M - 04% E – 02%
Platelet count 4,23,000 /cu mm
Laboratory Investigations
Complete Blood Count (contd….)
FilmRBC – Anisopoikilocytosis including both macrocytes, microcytes, some pencil shaped cells and a few target cells seen. WBC – MaturePlatelets – Adequate.
CommentFeatures suggestive of combined deficiency anemia with leucopenia.
Laboratory Investigations
CSF study (27/05/2017)
Physical Examination
Color Watery
Appearance Clear
Cytology
Total Leucocyte 02/mm3 (100% Lymphocyte)
RBC 00/mm3
Biochemistry
Protein 20 mg/dL
Sugar 80 mg/dL
Staining
No Gram or Ziehl-Neelsen stained organism found.
Laboratory Investigations
(27/0
5/2
017)
RBS 4.2 mmol/L
Serum Calcium 2.1 mmol/L
Urine R/M/E Normal study
Serum Electrolytes (mmol/L)
Na+ K+ Cl-
141.5 5.2 100.5
(19/0
7/2
016) TSH 1.82 mIU/L (0.47 – 5.01mIU/L)
T3 1.65 nmol/L (1.21 – 3.08 nmol/L)
T4 146.53 nmol/L (62.5 – 158.5 nmol/L)
Laboratory Investigations
Laboratory Investigations
Laboratory Investigations
Laboratory InvestigationsCT Scan of Brain
No evidence of hemorrhage, infarct or
mass lesion is seen in the both
cerebral hemispheres.
3rd and both lateral ventricles are
dilated.
External CSF spaces are widened.
Impression:
Generalized cerebral atrophy.
Laboratory Investigations
Laboratory Investigations
EEG (05/06/2017)Comments:
The EEG record shows severe
abnormalities with slow spike wave
discharges and burst-suppression pattern
of discharges. Background also shows
polymorphic activities and poverty of
reactivities to external stimuli.
The feature is suggestive of Epileptic
Encephalopathy and compatible with
Lennox-Gastaut syndrome.
Spastic quadriplegia with motor, cognition delay with vision and hearing impairment with microcephaly with Lennox-Gastautsyndrome.
Final Diagnosis
Restoration of attainable functional abilities
Aims of Management
Management
Multidisciplinary team approach
Pediatricia
or
Neurologis
Ophthal-
mologist
Physiother
apist
Social
worker
Occupation
therapist
Otolaryngo
-logist
Management
Counseling
Counseling of Parents and caregiver
It is not a mental illness
Not a progressive disease
Not a curable disease
Child’s disability can be minimized and
improving the quality of life with proper
management
He needs life long management
support.
Management
Drug Therapy
Management
Other measures Developmental therapy and stimulation
Vision and hearing assessment
Psychological assessment
Family support and follow up
Thank You