3. Personal Data
• Patient name- Shreya
• Age- 1 year 4 months
• Date of birth- 29/03/2011
• Address- Bantwala
• Informant- Mother – 7th std (reliable)
• Date of admission- 2/8/2012
5. History of presenting illness
• Cough – associated with expectoration
Onset- insiduous
Gradually progressive
Present throughout the day
No aggravating factors
Relieved on medication
7. • Breathlessness
Associated with cough and expectoration
Associated with occasional wheeze
Worsens on lying down, at night
Relieved when mother holds baby upright
8. • Came to GWH on 30th July with above
complaints
• Nebulization done
• Symptoms subsided
• Patient discharged the same day
• Symptoms recurred 3 days later,
admitted.
9. Past history
• Has had similar episodes in the past
since the age of 1.5months
• 3 admissions
• Nebulization done each time
10. Antenatal history
• Age at first pregnancy: 26 years
• Birth order-5
• h/o 3 abortions – 4th, 5th and 6th month of
gestation
• Age at 4th pregnancy: 29 years (baby
healthy)
• Age at 5th pregnancy : 31 years
11. • Spontaneous conception
• 1st trimester- No history of fever with rash,
exposure to drugs or radiation, increased
frequency or burning micturition. IFA
tablets taken.
• 2nd trimester- No history suggestive of PIH/
GDM. T.T injections taken
• 3rd trimester- No history suggestive of
PIH/GDM
• 4 USG done. Anomaly detected at 8th
month POG (Down’s syndrome)
12. Natal and postnatal history
LSCS at 9th month
Cried immediately after birth
Birth weight – 2.8kg
Breast feeding initiated after 2 hrs
NICU admission- 4days – phototherapy
Passed urine and meconium
13. At 1.5 months age:
• Diagnosed to have Down’s syndrome
• Child being taken for physiotherapy twice
a week since the age of 1.5 months
• h/o recurrent respiratory infections
• No h/o constipation / vomiting/ bleeding
gums or from other sites
• No h/o impaired vision or hearing
• No h/o nasal regurgitation of food/choking
14. • h/o feeding difficulty since 1.5 months
of age
• Inability to feed continuously
• h/o inadequate weight gain
• No history of orthopnoea, cyanosis,
syncope or edema
15. Developmental history
• Social smile - 8 months
• Recognized mother- 9 months
• Stranger anxiety – 1 year
• Head control – 1 year
• Rolling over – 1 year
• Unidextrous grasp – 1 year
• Monosyllables- 14 months
• Bisyllables- 16 months
17. Diet history
• Exclusively breast fed till 6 months of
age
Calories(kcal) Proteins(g)
Breakfast 226 6.4
Lunch 302 7.7
Snacks 290 4.1
Dinner 88 1. 7
Total 791+ 402= 1190 18.5+6.6=25
Expected 1030 22
18. Family history
• Total family members- 4
• Non consanguineous marriage
• Parents healthy.
• No history of TB/ congenital defects/
allergy in the family
19.
20. Summary
• 16 months old baby , a known case of
Down’s syndrome, came to RAPCC with
cough and expectoration and
breathlessness 6 days prior to admission.
Patient has history of recurrent respiratory
tract infections, feeding difficulty since 1.5
months , was diagnosed to have a cardiac
anomaly at 1.5months of age.She has
global developmental delay. She is
immunized up to date and no calorie
deficit
22. VITALS
• Pulse rate-104 beats per min (normal)
• Respiratory rate-36 per min
(tachypnea)
• Afebrile during examination
23. ANTHROPOMETRY
• Weight for age
• Less than 3rd percentile
• Grade 1 PEM (IAP)
• undernutrition (wellcome trust)
24. • Length
• Less than 3rd percentile
• Grade III stunting (waterlow
classification)
• Weight for height
• No wasting (waterlow classification)
25. • Head circumference
• Microcephaly (less than 3rd percentile)
• Brachycephaly is present
• Mid arm circumference-14
cm(normal)
• Chest circumference is greater than
head circumference
26. Head to toe examination
• Sparse thin shiny hair
• Flat occiput
• Ant fontanelle-1*1cm
• Depressed nasal bridge
• Hypertelorism
• Epicanthic fold present
27. • Up-slanting of eyes
• Low set ears
• Mouth kept open with protruding
tongue
• Short neck
• Short broad hands
• Hypotonia,hyperflexible limbs
• Kennedy crease
30. RESPIRATORY SYSTEM
• Respiratory rate-36/min
• On Inspection,abdominothoracic
respiration,movements bilaterally
symmetrical
• On Palpation,trachea is central,inspectory
findings confirmed
• On percussion,resonant note heard in all
areas
• On auscultation,breath sounds of equal
intensity bilaterally,vesicular,crepitations
heard bilaterally
31. • Cardiovascular system
• S1 S2 heard,no murmurs
• CNS
• Hypotonia,power cannot be
assessed,reflexes are normal
• P/A
• Soft nontender,no organomegaly
41. INVESTIGATIONS FOR DOWN S
SYNDROME
• Karyotyping.
• To diagnose complications-
• Complete blood count.
• Peripheral smear
• Radiological findings
• X ray spine
• X ray chest.
• X ray bones.
• X ray pelvis.
42. • AUDIOLOGY
• OPHTHALMOLOGICAL.
• THYOID FUNCTION TESTS.
• ECHO-PDA with Left to Right shunt.
• BLOOD SUGAR.
46. BIOCHEMICAL INVESTIGATIONS
• ELECTROLYTES
Na+,K+,Cl-,HCO3
‘LIVER FUNCTION’ TESTS
Total and Direct Bilirubin ; ALT
• ARTERIAL BLOOD GAS ANALYSIS
• THYOID FUNCTION TESTS.
53. PNeuMONIA
• INdICAtIONs fOr hOsPItAlIsAtION :
• At tIMe Of dIAgNOsIs:
Features of hypoxia ( restlessness, anxiety, cyanosis. Inability
to sleep, talk, walk, unconsciousness, seizures) ; Reduced
urine output/ dehydrated ; Vomiting/ poor oral intake
High risk factors
• durINg treAtMeNt
No improvement/ progressive deterioration when on treatment
as outpatient
54. OutPAtIeNt MANAgeMeNt
• 1 – 5 years age :
• Paediatric Tablet Cotrimoxazole (Sulphamethoxazole 100 mg
and trimethoprim 20 mg ) - 3 tablets twice a day
• Reassess after 48 hours
• If improves – continue for 3 more days. No improvement –
continue for 48 hours and reassess.
• Explain parents WARNING SIGNS – return immediately
55. INPAtIeNt MANAgeMeNt
Specific Supportive
Antibiotics Hydration
Nutrition
Oxygen
Antipyretics
Physiotherapy
Asthalin nebulisation if wheeze is
present
56. ANtIbIOtICs
• Benzyl penicillin/ ampicillin / 3rd generation cephalosporin +/-
aminoglycosides
• Inj. Benzyl penicillin – 5000IU per kg/dose 6th hourly IM
• Inj. Ampicillin – 50mg/kg/dose 6th hourly IM
• Inj. Gentamicin – 2.5 mg/kg/dose 8th hourly IV
• Continue for 10-14 days
• Assess twice a day – if deterioration :
CXR to look for staphylococcal infection
(pneumatoceles ) – change to cloxacillin
• Atypical pneumonia - macrolides
57. suPPOrtIVe CAre
• Fever – Paracetamol (10-15 kg/dose ) every 4 to 6 hourly
• Tachypnea, cyanosis, chest indrawing – oxygen by oxygen
hood, oxygen mask, nasal catheter, nasopharyngeal catheter
• Not drinking/dehydrated – IV fluids
• Asthalin nebulisation : if wheeze present
58. treAtMeNt Of the INdex CAse
• Nebulisation with asthalin
• IV fluids Iso – P
• Inj. Ampicillin IV
• Injection Gentamycin IV
• Syp PCT
60. dOWN sYNdrOMe – heAlth
suPerVIsION
Condition Time to screen Comment
Congenital heart Birth 50% risk for congenital
disease Young adult for heart disease.
acquired valve disease Increased risk for
pulmonary
hypertension
Strabismus, cataracts, Birth or by 6 months 15% - cataracts
nystagmus Check vision annually 50% - refractory errors
Hearing impairment or Birth or by 3 months – Congenital hearing loss
loss ABER 70% risk – serious
If tympanic membrane otitis media
not visualised- 6
monthly for 3 years
Annually therafter
Constipation Birth Hirschsprung disease
61. dOWN sYNdrOMe – heAlth
suPerVIsION
Condition Time to screen Comment
Celiac disease 2 years/ symptomatic Screen – IgA and
tissue transglutamase
antibodies
Hematologic disease At birth , adoloscence Neonatal polycythemia
and when symptoms Leukemoid reaction
develop Leukemia
Hypothyroidism Birth, repeat at 6 – 12 1% - congenital
months and then 5% acquired
annually
Growth and At each visit Discuss school
development Use Down syndrome placement options
growth curves Proper diet to avoid
obesity
64. dOWN sYNdrOMe – heAlth
suPerVIsION
Condition Time to screen Comment
Obstructive sleep apnea Start at 1 year. Then at Monitor for snoring,
each visit restless sleep
Atlantoaxial subluxation/ Each visit – history and Maybe asymptomatic
instability physical exam
Radiographs at 3 -5
years or when planning to
participate in contact
sports / Transient
neurological symptoms
Gynaecological care Adoloscent girls Menstruation/
contraception use
Recurrent infections When present Check IgG subclass and
IgA levels
Psychiatric, behavioral Each visit Depression,anxiety,
disorders OCD, schizoprenia.
Autism , Early onset
alzheimers
65. PdA - left tO rIght shuNt
• Catheter based treatment – occlusive devices or coils
• Surgery if :
• Large PDA ( larger than size of available devices)