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Welcome to
Clinical meeting
Presenters:
Dr. Maimuna Sayeed
Dr. Aysha Sabiha
Resident - Phase A
Paediatric Gastroenterology & Nutrition
Particulars of the patient
• Name : Laam
• Age : 09 Months
• Sex : Male
• Address : Chanpara,
Jhinaidah
• Date of admission : 11.03.2017
• Date of examination : 11.03.2017
• Informant : Mother
Presenting complaints
 Recurrent episodes of seizure for 1 month.
 Can not sit yet.
History of present illness
According to the statement of the informant mother,
her child was reasonably well 1 month back. Then he
developed recurrent episodes of seizure which was
manifested by sudden symmetrical contraction of all
four limbs towards the trunk followed by slow
relaxation of limbs. The seizure occurred more after
awakening from sleep and was followed by crying.
The seizure occurred in clusters 2-3 episodes per day
and 3-6 spasms per episodes.
History of present illness(cont.)
Spasms were not associated with any bowel bladder
incontinence or loss of consciousness. These spasms
aggravated for last 7 days. Mother also complained
that her child can not sit yet independently.
He had no H/O fever, trauma, vomiting, abnormal
urine or body odor.
With the above complaints he was admitted here for
evaluation and management.
Birth history
Antenatal: Mother was on regular antenatal check
up. She had no H/O Fever, rash, HTN, DM, but had
H/O UTI in 1st trimester.
Natal: LUCS at 37th weeks of gestation due to PROM
for 2 days. No h/o delayed crying after birth. Birth
weight was 3kg.
Postnatal: There was no h/o neonatal sepsis, seizure.
Feeding history
He was on formula feeding from his 1st day of life
along with breast feeding for 6 months, now he is on
complementary feeding.
Developmental history
Gross motor: Neck control at 6 month
Fine motor & vision: reaches out for toys at 6
months
Hearing & speech: turns head towards sound in
delayed fashion since 7 month of age
Cognition: Social smile at 3 month
Past illness
He has h/o seizure at 1½ month of age, 2-3 times per
day, which was tonic in nature, characterized by
turning of head towards one side and tightening of all
4 limbs. which was not followed by unconsciousness.
Neither was not associated with fever. And it was
stopped after 1 month when he was treated with AED.
Treatment history
He was treated with sodium valproate till 6 months of
age along with Piracetam and Phenobarbitone up to 8
months of his age. He also took Syp. Prednisolone for
last 7 days.
Immunization history
Immunized as per EPI schedule till date.
Family history
He is the only issue of his non-consanguineous
parents. No h/o still birth, affected family members.
Socio economic history
He belongs to below middle socioeconomic
background. Father is a service holder, mother is
home maker.
Physical examination
General examination
 Appearance: Conscious, playful, active
 Pallor
 Jaundice
 Cyanosis
 Dehydration Absent
 Clubbing
 Koilonychia
 Leukonychia
 Edema
General examination (cont)
 BCG mark: Present
 Skin survey: Normal
 Lymph nodes: Not palpable
 Fontanelle : Ant. fontanelle is open, not bulged.
 Signs of meningeal irritation: Absent
 Back & spine: Normal
 Ear, nose, throat: normal
General examination (cont)
Vital Signs:
Temperature : 98 ° F
Pulse : 120 b/min
Respiratory Rate : 32 breaths / min
Blood Pressure : 80/30 mm Hg
General examination (cont)
Anthropometry
Length : 74 cm
(Lies between 50th and 75th centile)
Weight : 10 Kg
(Lies on 75th centile)
OFC : 42 cm
(Lies between 3rd centile)
Developmental assessment
Gross motor: neck control present (3 months)
Fine motor: lessening of clenching (2 months)
Vision: fix and follow (6 week)
Hearing: sluggish respond to sound (4 months)
Speech: says monosyllable (8 months)
Cognition: Social smile-present (6 weeks)
Developmental assessment (cont)
Primitive reflex-
• Moro reflex: absent
• rooting reflex: absent
• sucking reflex: absent
• palmar grasp: absent
• plantar grasp: absent
Systemic examination
Nervous system
• Higher psychic function: Conscious, playful and
active
• Cranial nerves: Cranial nerves are intact as far could
be examined.
Motor function
Upper Limb Right Left
Bulk Normal Normal
Tone Normal Normal
Power 5/5 5/5
Deep
Reflexes(biceps,
triceps, supinator)
Normal Normal
Involuntary
movements
Absent Absent
Motor function
Lower Limb Right Left
Bulk Normal Normal
Tone Normal Normal
Power 5/5 5/5
Deep Reflexes(knee
jerk, ankle jerk)
Normal Normal
Plantar Extensor Extensor
Involuntary
movements
Absent Absent
Nervous system (cont.)
• Sensory Functions : Intact as far could be
examined.
• Cerebellar Functions Test : Intact as far could be
examined.
• Gait: Not applicable.
Respiratory system
Inspection:
Respiratory Rate: 32 breaths/min
Shape of the chest: Normal
Chest Movement: Symmetrical
Palpation:
Trachea: Centrally Placed
Chest Expansibility: Symmetrical
Percussion:
Percussion Note: Resonant all over the chest.
Auscultation:
Breath Sound: Vesicular with no added sound
Cardiovascular System
Inspection:
No visible pulsation
Palpation:
Apex Beat: Located in the Left 4th ICS, lateral to the
midclavicular Line.
Thrill: Absent
Left Parasternal Heave: Absent
Palpable P2: Absent
Auscultation:
Heart Sound: 1st and 2nd heart sounds are audible in all
the four areas with no added sound.
Gastrointestinal System
Oral cavity: Healthy
Abdomen proper:
Inspection:
• Abdomen was distended
• Umbilicus centrally placed with transverse slit
• No visible peristalsis or pulsation
Palpation:
• Abdomen was diffusely tender
• No organomegaly
• Fluid thrill present
Percussion: Shifting dullness not done
Auscultation: Bowel sound was sluggish
Locomotor system
Look:
No joint swelling
No redness
No deformity or periarticular muscle wasting.
Feel:
Local temperature: normal
Joint tenderness: absent
Move:
Joint movement was not restricted
Salient feature
Laam, a 9 month old boy, only issue of non
consanguineous parents, partially immunized
presented with the complaints of epileptic spasm for 1
month. The spasm occurred in clusters of 2-3
episodes per day and 5-6 spasms per episode,
aggravated for last 7 days. He had h/o generalized
seizure at his 1½ month of age, which stopped after 1
month with AED. He has delayed developmental
milestone in all domain and there was no further
achievement during last 1 month.
Salient feature (cont)
There is no H/O fever, trauma, drowsiness, vomiting,
abnormal urine or body odor. Baby was born at term
by LUCS with birth weight 3 kg and no h/o delayed
cry.
On examination, Laam found conscious, active,
playful, vitals within normal limit, anthropometrically
well thriving except microcephaly, neurological
examination revealed no abnormality except he was
less interest to surrounding, other systemic
examination were normal.
Provisional Diagnosis
?
Provisional Diagnosis
West Syndrome with
Global Developmental Delay
West Syndrome
Points in favour Points in against
1. Suggestive age
2. Typical seizure type
(epileptic spasm)
3. Developmental
delay.
Investigation
EEG
Comment:
suggestive of modified
hypsarrhythmia
CT scan of brain
Impression:
Suggestive of bilateral old infarcts
with bilateral cerebral atrophy may
be due to birth asphyxia
Investigation(cont)
CBC
Hb
ESR
WBC
RBC
Platelet
DC
14.5 g/dl
15 mm in 1st hr
14x 109/L
5.39x1012/L
400x109/L
N 20%, L 70%, M 02%, E 08%
Urine R/M/E
Pus cell
RBC
Ketone body
0-2/HPF
Nil
Absent
Investigation(cont)
Investigation
S. Electrolyte
Na
K
Cl
TCO2
136 mmol/L
4.6 mmol/L
103 mmol/L
24.2 mmol/L
S. creatinine 0.10 mg/dl
RBS 5.2 mmol/L
S. Lactic acid 4 mmol/L
Plasma ammonia 37 umol/L
Treatment:
• Counseling.
• Inj. ACTH 40 IU IM once daily.
• Syp. Ranitidine.
• Developmental therapy.
• Monitor vital signs regularly.
Follow up on day 5 (15.03.17)
Subjective Objective Assesment Plan
Vomiting for 1
time
H/o inconsolable
cry
Pt was conscious
Vital signs
Temp-98.4 F
RR38-b/min
Pulse-120/min
BP-120/85 mmHg
(SBP >99
DBP >99th )
Ant. Fontanelle-open
Lungs: clear
Heart: S1+S2+O
Abd:soft, non tender
Motor examination-
Tone: normal Jerks:
normal
Planter: extensor
HTN Start
antihypertensive
Follow up on day 10 (20.03.17)
Subjective Objective Assesment Plan
No new conplaints
Seizure 1 episode
in last 24 hr
Pt was conscious
Vital signs
Temp-98 F
RR32b/min
Pulse-116/min
BP-125/80 mmHg
(SBP >99th
DBP 95th -99th )
Ant. Fontanelle-open
Lungs: clear
Heart: S1+S2+O
Abd:soft, non tender
Motor examination-
Tone: normal Jerks:
normal
Planter: extensor
HTN Reduce dose of
ACTH
Increase dose of
antihypertensive
Eye evaluation
 Optic disc - pale (left>right)
 Fundus – chorioretinal patchy change on both eye
Advice: TORCH screening
Subsequent follow up
Clinical
 General condition
 Response to drug
 Side effects of drugs
Investigations
o CBC
o S. Electrolytes
o RBS
Thank you

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West syndrome

  • 1. Welcome to Clinical meeting Presenters: Dr. Maimuna Sayeed Dr. Aysha Sabiha Resident - Phase A Paediatric Gastroenterology & Nutrition
  • 2. Particulars of the patient • Name : Laam • Age : 09 Months • Sex : Male • Address : Chanpara, Jhinaidah • Date of admission : 11.03.2017 • Date of examination : 11.03.2017 • Informant : Mother
  • 3. Presenting complaints  Recurrent episodes of seizure for 1 month.  Can not sit yet.
  • 4. History of present illness According to the statement of the informant mother, her child was reasonably well 1 month back. Then he developed recurrent episodes of seizure which was manifested by sudden symmetrical contraction of all four limbs towards the trunk followed by slow relaxation of limbs. The seizure occurred more after awakening from sleep and was followed by crying. The seizure occurred in clusters 2-3 episodes per day and 3-6 spasms per episodes.
  • 5. History of present illness(cont.) Spasms were not associated with any bowel bladder incontinence or loss of consciousness. These spasms aggravated for last 7 days. Mother also complained that her child can not sit yet independently. He had no H/O fever, trauma, vomiting, abnormal urine or body odor. With the above complaints he was admitted here for evaluation and management.
  • 6. Birth history Antenatal: Mother was on regular antenatal check up. She had no H/O Fever, rash, HTN, DM, but had H/O UTI in 1st trimester. Natal: LUCS at 37th weeks of gestation due to PROM for 2 days. No h/o delayed crying after birth. Birth weight was 3kg. Postnatal: There was no h/o neonatal sepsis, seizure.
  • 7. Feeding history He was on formula feeding from his 1st day of life along with breast feeding for 6 months, now he is on complementary feeding.
  • 8. Developmental history Gross motor: Neck control at 6 month Fine motor & vision: reaches out for toys at 6 months Hearing & speech: turns head towards sound in delayed fashion since 7 month of age Cognition: Social smile at 3 month
  • 9. Past illness He has h/o seizure at 1½ month of age, 2-3 times per day, which was tonic in nature, characterized by turning of head towards one side and tightening of all 4 limbs. which was not followed by unconsciousness. Neither was not associated with fever. And it was stopped after 1 month when he was treated with AED.
  • 10. Treatment history He was treated with sodium valproate till 6 months of age along with Piracetam and Phenobarbitone up to 8 months of his age. He also took Syp. Prednisolone for last 7 days.
  • 11. Immunization history Immunized as per EPI schedule till date.
  • 12. Family history He is the only issue of his non-consanguineous parents. No h/o still birth, affected family members. Socio economic history He belongs to below middle socioeconomic background. Father is a service holder, mother is home maker.
  • 14. General examination  Appearance: Conscious, playful, active  Pallor  Jaundice  Cyanosis  Dehydration Absent  Clubbing  Koilonychia  Leukonychia  Edema
  • 15. General examination (cont)  BCG mark: Present  Skin survey: Normal  Lymph nodes: Not palpable  Fontanelle : Ant. fontanelle is open, not bulged.  Signs of meningeal irritation: Absent  Back & spine: Normal  Ear, nose, throat: normal
  • 16. General examination (cont) Vital Signs: Temperature : 98 ° F Pulse : 120 b/min Respiratory Rate : 32 breaths / min Blood Pressure : 80/30 mm Hg
  • 17. General examination (cont) Anthropometry Length : 74 cm (Lies between 50th and 75th centile) Weight : 10 Kg (Lies on 75th centile) OFC : 42 cm (Lies between 3rd centile)
  • 18. Developmental assessment Gross motor: neck control present (3 months) Fine motor: lessening of clenching (2 months) Vision: fix and follow (6 week) Hearing: sluggish respond to sound (4 months) Speech: says monosyllable (8 months) Cognition: Social smile-present (6 weeks)
  • 19. Developmental assessment (cont) Primitive reflex- • Moro reflex: absent • rooting reflex: absent • sucking reflex: absent • palmar grasp: absent • plantar grasp: absent
  • 21. Nervous system • Higher psychic function: Conscious, playful and active • Cranial nerves: Cranial nerves are intact as far could be examined.
  • 22. Motor function Upper Limb Right Left Bulk Normal Normal Tone Normal Normal Power 5/5 5/5 Deep Reflexes(biceps, triceps, supinator) Normal Normal Involuntary movements Absent Absent
  • 23. Motor function Lower Limb Right Left Bulk Normal Normal Tone Normal Normal Power 5/5 5/5 Deep Reflexes(knee jerk, ankle jerk) Normal Normal Plantar Extensor Extensor Involuntary movements Absent Absent
  • 24. Nervous system (cont.) • Sensory Functions : Intact as far could be examined. • Cerebellar Functions Test : Intact as far could be examined. • Gait: Not applicable.
  • 25. Respiratory system Inspection: Respiratory Rate: 32 breaths/min Shape of the chest: Normal Chest Movement: Symmetrical Palpation: Trachea: Centrally Placed Chest Expansibility: Symmetrical Percussion: Percussion Note: Resonant all over the chest. Auscultation: Breath Sound: Vesicular with no added sound
  • 26. Cardiovascular System Inspection: No visible pulsation Palpation: Apex Beat: Located in the Left 4th ICS, lateral to the midclavicular Line. Thrill: Absent Left Parasternal Heave: Absent Palpable P2: Absent Auscultation: Heart Sound: 1st and 2nd heart sounds are audible in all the four areas with no added sound.
  • 27. Gastrointestinal System Oral cavity: Healthy Abdomen proper: Inspection: • Abdomen was distended • Umbilicus centrally placed with transverse slit • No visible peristalsis or pulsation Palpation: • Abdomen was diffusely tender • No organomegaly • Fluid thrill present Percussion: Shifting dullness not done Auscultation: Bowel sound was sluggish
  • 28. Locomotor system Look: No joint swelling No redness No deformity or periarticular muscle wasting. Feel: Local temperature: normal Joint tenderness: absent Move: Joint movement was not restricted
  • 29. Salient feature Laam, a 9 month old boy, only issue of non consanguineous parents, partially immunized presented with the complaints of epileptic spasm for 1 month. The spasm occurred in clusters of 2-3 episodes per day and 5-6 spasms per episode, aggravated for last 7 days. He had h/o generalized seizure at his 1½ month of age, which stopped after 1 month with AED. He has delayed developmental milestone in all domain and there was no further achievement during last 1 month.
  • 30. Salient feature (cont) There is no H/O fever, trauma, drowsiness, vomiting, abnormal urine or body odor. Baby was born at term by LUCS with birth weight 3 kg and no h/o delayed cry. On examination, Laam found conscious, active, playful, vitals within normal limit, anthropometrically well thriving except microcephaly, neurological examination revealed no abnormality except he was less interest to surrounding, other systemic examination were normal.
  • 32. Provisional Diagnosis West Syndrome with Global Developmental Delay
  • 33. West Syndrome Points in favour Points in against 1. Suggestive age 2. Typical seizure type (epileptic spasm) 3. Developmental delay.
  • 36. CT scan of brain Impression: Suggestive of bilateral old infarcts with bilateral cerebral atrophy may be due to birth asphyxia
  • 37. Investigation(cont) CBC Hb ESR WBC RBC Platelet DC 14.5 g/dl 15 mm in 1st hr 14x 109/L 5.39x1012/L 400x109/L N 20%, L 70%, M 02%, E 08% Urine R/M/E Pus cell RBC Ketone body 0-2/HPF Nil Absent
  • 38. Investigation(cont) Investigation S. Electrolyte Na K Cl TCO2 136 mmol/L 4.6 mmol/L 103 mmol/L 24.2 mmol/L S. creatinine 0.10 mg/dl RBS 5.2 mmol/L S. Lactic acid 4 mmol/L Plasma ammonia 37 umol/L
  • 39. Treatment: • Counseling. • Inj. ACTH 40 IU IM once daily. • Syp. Ranitidine. • Developmental therapy. • Monitor vital signs regularly.
  • 40. Follow up on day 5 (15.03.17) Subjective Objective Assesment Plan Vomiting for 1 time H/o inconsolable cry Pt was conscious Vital signs Temp-98.4 F RR38-b/min Pulse-120/min BP-120/85 mmHg (SBP >99 DBP >99th ) Ant. Fontanelle-open Lungs: clear Heart: S1+S2+O Abd:soft, non tender Motor examination- Tone: normal Jerks: normal Planter: extensor HTN Start antihypertensive
  • 41. Follow up on day 10 (20.03.17) Subjective Objective Assesment Plan No new conplaints Seizure 1 episode in last 24 hr Pt was conscious Vital signs Temp-98 F RR32b/min Pulse-116/min BP-125/80 mmHg (SBP >99th DBP 95th -99th ) Ant. Fontanelle-open Lungs: clear Heart: S1+S2+O Abd:soft, non tender Motor examination- Tone: normal Jerks: normal Planter: extensor HTN Reduce dose of ACTH Increase dose of antihypertensive
  • 42. Eye evaluation  Optic disc - pale (left>right)  Fundus – chorioretinal patchy change on both eye Advice: TORCH screening
  • 43. Subsequent follow up Clinical  General condition  Response to drug  Side effects of drugs Investigations o CBC o S. Electrolytes o RBS