Mr. Mohit a 1.5 year old boy, 2nd order child of non-consanguineous marriage from Dholpur, Rajasthan presented with complaints of multiple episodes of seizures.

HOPI

• Since the complaints began from neonatal period, i would like to start the history from antenatal period

• Antenatal

  • the pregnancy was confirmed by UPT and was booked in Dholpur GH
  • The mother did not have hyperemesis. No rash or any infections.
  • No any history of any radiation exposure, no drug intake
  • No history of drug or tobacco intake
  • Mother had no history of GDM or GHTN
  • Took two doses of Td vaccine and took IFA tablets as per prescribed
  • Quickening was felt at 18 weeks and weight gain was adequate as told to the mother by the treating doctor
  • The mother did not have any bleeding or leaking per vagina
  • She did not have history of chorioamnionitis
  • She felt labor pains at 39 weeks and delivered a male baby by NVD

• Natal history

  • the child was born by NVD with 2.8 kg birth weight
  • The child did not cry immediately after birth
  • The child was admitted in SNCU for 12 days, as was intubated. The child has neonatal seizures during the admission, The child was extubated at day 6 of life
  • There was no history of neonatal jaundice according to the mother
  • The child was discharged with syrup phenobarbitone and the child was on antiepileptics since then and further details regarding this admission was not known to mother

• Milestones

  • The child was not able to hold his neck till date
  • The child was not able to reach for objects $$DQ = \frac{0 \ months}{12\ months} = 0 %$$
  • The child can only able to coo since 12 months of age $$DQ = \frac{3 \ months}{12\ months} = 25 %$$
  • The child exhibits social smile at 6 months of age and recognizes mother at 12 months of age $$DQ = \frac{3 \ months}{12\ months} = 25 %$$
  • The child can fixate objects upto 180ᵒ and can able to turn sideway to sound but not upward or downward $$DQ = \frac{3 \ months}{12\ months} = 25 %$$
  • Average DQ = 18.75%

• The mother felt difficulty in feeding the child in the form of drooling of saliva and regurgitation

• Mother also notices tightening of neck and abnormal posture

• The mother said the child has difficulty in wearing diaper to the child and noticed scissoring of legs

• The child has not hand preference

• The child was able to perceive the touch and pain sensation

• The mother also complaints of constipation in child

• The child has multiple episodes of seizures since childhood, for which the child is on antiepileptics. MRI was done which showed some abnormalities.

• The present admission was for multiple episode of abnormal body movement in the form

  • unrolling of eyes
  • sudden jerky movements of both upper and lower limbs
  • staring look
  • each episode lasting only for a few seconds each
  • multiple such episodes over the last 24 hours
  • The child was admitted in pediatric ward and being treated for seizures

• The was no excessive sweating, palpation and flushing

• The child did not attain bowel and bladder control yet

• No c/o fever or rash

• No c/o neck stiffness or vomiting

• No c/o recent vaccination

• No c/o breathlessness or bluish discoloration of skin

• No history of any trauma or any infections in the past

• No history of lethargy, dry skin

• No history of diurnal variation in symptoms

• There is no loss of attained milestones

Past History

• 3 admission in past
  • at birth as described above
  • at 4 month for seizure at kalawati saran hospital
  • at 1 year of age at kalawati saran hospital for seizure
• No history of any previous blood transfusion
• No history of any other drug intake or drug allergies
• No history of any surgeries in past

Family history

• 2nd order child born of non-consanguineous marriage
• No history of any seizure disorder, cardiac disorder or developmental issues in sibling, parents or any other family members
• No history of any chronic illness in family members

Immunization history

• The child was completely immunized for age till 16 months of age
• BCG, HBV, OPV0-3, Pentavalent 1-3, fIPV1-2, PCV1-2 + booster, rota 1-3, MR 1-2, DPT booster, Vitamin

Dietary history

• has mixed diet from family pot
• but diet is predominantly milk based
• No food allergies

Socioeconomic and KAP

• lower social economic status by modified kuppuswamy scale
• Mother knows has basic understanding of the disease of her child, and knows that the the child needs chronic physiotherapy and regular anti-epileptic treatment and willing to follow up with hospital and the drug compliance is regular

Summary of History

Mohit is a 1.5 year old child born to non-sanguineous marriage. There was no antenatal complications in his birth, however he did suffer severe perinatal asphyxia at his birth, and had seizure since his birth. He has developmental delay in all 4 domains with a developmental quotient of 25%. He now presented with breakthrough seizures.

I would like to think of non-progressive neuromotor disorder of cerebral origin probably cerebral palsy of spastic diplegia, likely secondary to perinatal asphyxia associated with comorbidities like seizures and visual and hearing impairment and no history of suggestive of regression of milestones.

General head to toe examination

• The child was examined in supine position in his mother's lap
• The child is alert and responsive to surroundings
• Vitals
  • Temperature - 98.1ᵒF
  • PR - 109/ min, regular volume, no radioradial or radiofemoral delay. All peripheral pulses felt well
  • RR - 28/min, abdominothoracic type
  • BP - 95/66 (5-50th) in right upper limb in supine position
  • SpO2 - 97%
• Anthropometry

• Head to toe Examination
  • Plagiocephaly, sutures closed
  • Hair - normal texture, non pluckable, black in color
  • Eyes - no pallor, icterus, coloboma, cataract, chorioretinitis, cherry red spots, corneal conjunctival xerosis, bitot spots
  • Teeth - no enamel hypoplasia, yellowish discoloration of teeth or crowding of teeth
  • No drooling of saliva
  • Ears - no low set ears, TM intact
  • Oral cavity - lips, tongue - normal; no cheilitis, stomatitis, oral ulcers, uvula central, tonsils normal
  • Neck - no low hairline, short neckline
  • chest - normal in shape
  • abdomen - scaphoid
  • Extremities - no polydactyly, pedal edema, clubbing
  • No scoliosis, no bed sores
  • no limb length discrepancies
  • no cafe-au-lait spots, shagreen patches, neurofibromas

Systemic Examination

CNS

• HMF
  • The child is alert and responsive to surroundings
  • able to call for feed through cooing
  • no irritability
• CN
  • Able to follow objects upto 180ᵒ, fundus normal, no cataract, no apparent squint
  • b/l sensation over face normal, (conjunctival and corneal reflexes not done)
  • no loss of creases of forehead, no ptosis, deviation of angle of mouth
  • turns to sound sidewards, not upwards
  • uvula in central position (gag reflex not done)
  • able to turn neck (shrugging of shoulder not elicited)
  • no tongue fasciculation
• motor - bulk - no atrophy

• power cannot be elicited however, the activity and movements of all 4 limbs was noted.
• tone

• Reflexes

• Sensory
  • Responds to touch, pain, pressure, hot and cold temperatures
  • cortical sensation - normal
• Development
  • pull to sit - head lag seen
  • vertical suspension - scissoring of lower limbs
  • ventral suspension - head lag
  • not reaching for objects
• Cerebellar
  • No nystagmus
• No neck rigidity

other systems

• Respiratory system - b/l air entry +, NVBS, no added sounds, NAD
• Cardiovascular - s1s2 heard, no murmur - NAD
• abdominal - soft, non-tender, no-organomegaly, bowel sounds heard

Summary

A 1.5 year old second order child of non-consanguineous parents, presented with history of birth asphyxia and delayed milestones in all 4 domains without regression, with associated stiffness and abnormal tone. Examination revealed microcephaly, spasticity, extensor plantars without hepatosplenomegaly or any neurocutaneous markers.

The probable diagnosis is mixed cerebral palsy (spastic diplegic and dyskinetic) likely secondary to perinatal asphyxia at GMFCS level 4, with global developmental delay with DQ of 25% with primary microcephaly compilated by seizure, hearing and visual impairment and failure to thrive