General case

Juhi DhanawatPratik Kumar

Ashar LodiRidhima Sakhuja

Richa Singh

history

• Name: Shreya• Age : 2.5yrs , sex: female• From: Shimoga• Informant: mother, Reliability : good• Came to RAPCC 15days back with • Chief complaints: • enlarged head , loss of vision , seizure since

2yrs4months

History of presenting illness• Child was apparently normal 2yrs4months back when she

developed fever for which the mother gave paracetamol tablet. Fever decreased but spiked up again on the 8th day with one episode of seizure. There was no frothing of saliva or biting of tongue. The hands and legs became stiff which normalized within 2-3 minutes. Baby was admitted in the ICU at a local hospital ,treated and was discharged on medications for seizure, a tablet and syrup.

• Every time the mother gives the child head bath, she develops seizure.

• History of loss of vision since 2yrs 4 months.• The child does not recognize the mother and no social smile

present.

• No other episodes of fever. No history of vomiting.• No history of difficulty in feeding .• When the child did not improve, mother took her to

manipal hospital 2months back where scans were done and mother was told an operation would be required. She was referred to RAPCC.

• No history of difficulty in chewing.• No history of lateral gaze palsy.• No history of hearing deficit, drooling of saliva, nasal

regurgitation .• History of difficulty in wearing napkins.

Birth history

• Antenatal history: primigravidaIst trmester:Concieved spontaneously.No history of fever with rash, burning

micturition.No history of exposure to radiation or intake of

drugs. Ultrasound scan not done.

2nd trimester: quickening felt at 6th month.No history of fever with rash.No history of GDM, PIH.One USG scan done-nnormal3rd trimester:No history of GDM, PIH.USG scan done-normal.

• Full term delivery.• Elective caesarian section due to decrease in

fetal movements.• Baby cried immediately after birth.• Birth weight:2.75 kg• Meconium and urine passed within 24hrs.• Breast feeding initiated after 4hrs of delivery.• No postoperative complications.

Developmental history

• Gross motor- head control not achieved• baby cannot sit with support• Fine motor- grasp reflex present.• Language and communication: bysyllables

(amma) only word spoken.• Social: no social smile• does not recognise the mother• Inference: global deveopmental delay

Immunization history

• Immunized for age• Last vaccine taken: 1.5 yrs- DPT booster and

OPV.• Dietary history:• Exclusive breast feeding till the age of

5months.• Weaning : 5th month, cerelac given.• Presently eats from the family pot.

calories protiens

8am 5buiscuits+ I cup milk(200ml)

100+ 130= 230 0+7=7

10am ½ dosa 60 1.5

1pm 1 cup rice+I cup curry

175+50=225 4+ 2=6

3pm 1 fruit 50 0.5

5pm 5buicuits +1cup milk

100+130=230 0+7=7

7pm I cup rice+ 1 cup curry

175+50=225 4+2=6

9pm 1cup milk 130 7

total 1150 35

required 1150 19.5

Inference: no deficit

Family history

• Child born out of consanguinous marriage

Socio economic history

• 5 members in the family• 3rooms, no over crowding• income rs 4000/month• Belongs to lower middle class family according

to Modified Kuppuswamy scale.

Examination

General Condition

• A well nourished, conscious and confortable child• Decreased alertness to surrounding

• VITALS- Afebrile

- Pulse rate – 96/min- Respiratory Rate – 16/min - Blood Pressure- 110/ 80 mm hg

Anthropometry

• Weight– Actual- 12.5 kg– Expected- 13 kg– Inference – 96 % Normal (IAP)

• Height– Actual - 83 cm– Expected - 93 cm– Inference - 89 % Grade II stunting (Waterlow)

• BMI – 18 Kg/m2

• Mid Arm Circumference– Actual 18 cm– Expected >13.5 cm

• Head Circumference– Actual – 55 cm– Expected 48 cm– Inference Macrocephaly

Head to toe examination

• Pallor present (palpebral conjunctiva)• No icterus

ClubbingCyanosisLymphadenopathyEdema

• Head Circumference of 55 cm (macrocephaly)• Prominent forhead• No dilated scalp veins• Anterior Fontanelle – Open, non pulsatile, in

level, 4x4 cm• Normal hair distribution and growth• Eyes- Setting sun sign present

- Unresponsive to light

• Normal facial feature• Limbs- Increased tone• Chest – normal• Spine – normal• Abdomen – normal• Genitals – normal• No skin abnormalities

Developmental Assesment

• Expected for age (2.5 yr)

Gross Motor- Runs well, Climb stairs

Fine Motor- Turns Pages, Dress her/himself

Social- Dry by day, listen to stories

Language- 3 word simple sentences, refer to self as “I”

Developmental assessment(obsereved)

• Gross Motor– No head control– Cant sit with support– DQ- 14%

• Fine motor– Grasps finger– Can hold objects in one handDQ- 17 %

• Social– No social smile– Day time bed wetting present– DQ- 14%

• Language– Monosyllables– DQ- 30 %

– Global Developmental Delay

Systemic Examination

Central Nervous system examination

- Conscious, disinterested in surrounding- Spastic response to sudden loud sound- Skull and Spine- no deformity

Cranial nerve examination

I. Not doneII. Pupils reactive

Menace reflex- AbsentIII, IV, VI. Could not be assessedV. Normal B/LVII. No facial palsyVIII. Could not be assessedIX, X, XI, XII. Not assessed

Motor System ExaminationRight Upper/Lower

LeftUpper/Lower

Nutrition Normal/ Normal Normal/Normal

Tone Increased/Increased

Increased/Increased

Power Grade 3/ Grade 3 ? Grade 3/ Grade 3 ?

Sensory system

• Could not be assessed

• ReflexesSuperficial Right Left• Corneal Normal Normal• Abdominal Normal Normal• Plantar Upgoing Upgoing

Deep refelexes

Right Left• Triceps Grade 2 Grade 2• Biceps Grade 2 Grade 2• Knee Grade 3 Grade 3• Ankle Grade 3 Grade 3

Visceral- No bladder controlGait- could not be assessed, scissoring of lower limbs present.

• Respiratory System- Trachea central, B/L symmetrical chest

movements- Normal vesicular breath sound heard- No added sounds

• Cardiovascular system examination– PR- 90/min– Apex beat- 5th ICS medial to mid clavicular line– S1 S2 heard– No murmur

• Per abdomen

Abdomen- soft, non tenderno organomegaly

Summary

• Decreased alertness to surrounding• Grade II Stunting• Macrocephaly with open ant fontanelle • Setting sun sign, loss of vision, Pallor• Hypertonia• Severe Global developmental delay• Grade 3 lower limb reflexes

DIFFERENTIAL DIAGNOSIS OF LARGE HEAD

• MEGALENCEPHALY : - No signs of increased intracranial pressure. - Ventricles are not large, nor under increased

pressure Causes : 1. Hurler’s syndrome 2. Metachromatic leukodystrophy 3. Tay Sach’s disease

• Chronic Subdural hematoma : - Causes large head,mostly located in the parietal

region without prominent scalp veins or sunset sign.

• Others : 1. Hydranencephaly 2. Rickets 3. Achondroplasia 4. Hemolytic anemias 5. Familial macrocephalies

INVESTIGATIONS

Haematological investigations

• Haemoglobin

• Total count and differential count

• ESR

• Platelets

In our patient

• Haemoglobin- 12.2g%

• Total count-11,800/cc

• Differential count N-32% L-59% M-6% E-3%

• Platelets-2.3 lakh/cumm

Biochemical investigations

• Electrolytes

• Serum urea and creatinine

• Liver function tests

In our patient

• Electrolytes Na⁺ 143meq/L (136-149meq/L) K⁺ 4.4meq/L (3.5-5.3meq/L) Cl⁻ 107.3meq/L (98-111meq/L) HCO₃⁻ 23.3meq/L (23-27meq/L)• Serum urea-26mg/dl (5-18mg/dl)INCREASED• Serum creatinine-0.4mg/dl (0.3-0.7mg/dl)• Liver function tests total bilirubin-0.1mg/dl (0.2-1.2mg/dl) direct bilirubin-0.0mg/dl (upto 0.3mg/dl)

Radiological investigations

• CT scan of brain• Ultrasound• MRI

In our patient

• CT scan brain grossly distended lateral,3rd ,4th ventricles communicating hydrocephalus

Other investigations

• CSF analysis• Urine screening tests• Visual assessment• Hearing assessment• EEG• EMG• Metabolic work-up

In our patient

• Hearing assessment BERA OAE IntermittanceImpression-bilateral adequate hearing for

speech and language development

TREATMENT

TREATMENTMENT OF HYDROCEPHALUS

MEDICAL TREATMENT -It provides temporary relief & includes the use

of drugs which act either by decreasing CSF secretion by choroid plexus (Acetazolamide & loop diuretics ) , or by increasing CSF resorption (isosorbide).

• Since, the increase in head size is associated with progressive symptoms, therefore it is necessary to intervene surgically.

1. VENTRICULO-PERITONEAL SHUNT -CSF directly drained into circulation or peritoneal cavity. -Advantage- shunt need not be lengthened as the child

grows.2. VENTRICULO ATRIAL SHUNT ( VASCULAR SHUNT )3. VENTRICULOSTOMY -by endoscopic approach.