case scenario regarding neonatal jaundice,differential diagnosis for neonatal jaundice,some details about congenital hypothyroidism

1. CLINICAL LECTURE
DEMONSTRATION
NEONATAL JAUNDICE

2. History
• Thenuka Sathsara
• 1 month and 13days old baby
• Presented with
yellowish discolouration of body
for 3 weeks
(noted since 14days of age)

3. Antenatal history
• 2nd child of family
• Expected pregnancy
• Taken folic acid after pregnancy was confirmed by
urine hcG
• Rubella vaccination-taken
• No maternal infections,rashes
• USS done-12,20,28 wks
no abnomality detected
no oligo or polyhydroamniosis

4. Postnatal history
• EL/LSCS-due to past section
• Liquor-clear
• Term
• BW:3.050kg
• Cried at birth.no resuscitation given
• No admission to SCBU
• Breast feeding established within 1/2hr-good
sucking
• During hospital stay,
no jaundice observed,no fits,no hypoglycaemia
or any other blood abnormality
• Discharged within 24hrs after delivery.

5. At home
• Compared with other child,he is a good baby,not
causing much trouble to mother
• Less active,Sleeping most of time
• On & off protruding his tongue out
• Feeding-good
good sucking,
10-12 times per day,
sucking for 15 min at time,
no post pandrial vomiting
good UOP 7-8 times per day
weight gain not meassured

6. At home
• No straining
• No excessive crying while passing urine
• having costipation- bowel opening every 2-3
days(I.O ,Hypothy)
• No pale stools
• No dark urine
• No bleeding from umbilicus
• No umbilical stump infection
• No rashes

7. • No cantact hx of fever,rash,or any infection in
family members during past 1 month
• Blood groups
mother’s O+
Baby’s- not known
• Maternal medical illneses-
no thyroid diseases or symptoms of
hypothyroidism
no hepatitis-no maternal blood or plasma
transfusion
no STI
• No foreign travels in mother or father

8. • No risk factors for toxoplasmosis in mother
no pets (cats) at home
not cleaned animal faeces by mother
not walked barefoot outside
not cut & prepared uncooked meat

9. Health care services
• PHM visists: 5, 14, 21 days
mild jaundice detected at day 14
asked to do proper breast feeding &
expose baby to sunlight
-but not responded
• 1st well baby clinic visit-day 37
MO noted jaundice & asked to admit the
baby immediately
weight meassured.weight gain was poor
• After that baby got admitted to CSTH

10. Developmental Hx
• Age appropiate
• Gross motor-can lift chin to 45 degree in
prone position
• Fine motor & vision: follow faces midline
• Hearing ,speech language;get frightened to
some sounds
coos
• Social;smiles responsively with mother

11. • Immunisation;BCG at birth.papule has developed
• Dietary hx:
exclussive BF
technique corrected by both lactation centre &
PHM
using both sides of breast
changing to other side after emptying one side
• Family hx;
no haematological diseases
no consanguinity
no neonatal jaundice

12. • PSH
• Drug Hx nill
• Allery Hx
• Social Hx:
mother 30 yrs -house wife
father 30yrs –carpenter(working in somebody else's
workshop)
• Monthly income :30 000
• elder daughter-3yrs
lives in Nawala with mother’s sister
these days
• Home town-Kahathuduwa
• Nearest hospital-Wathara
• No Vehicle at home

13. Examination
OFC 37cm(10-20)
Weight 3.45kg(25-50)
Length 52(25-50 )

14. • Jaundice all over he body including plam & sole
• Lethargic child
• Coarse face
• Aterior fontanella wide open ,>3 finger breath
• Posterior fontanella open ,>1 finger breath
• Sagital suture open >1 finger breath
• No cephalhaematoma

15. • No pallor
• Eye-icterus
no cataract
• Protruding tongue
• No goiter

16. • No chest wall deformity
• Lungs clear

17. • Umbilical hernia
• Umbilicus healthy
• Abdomen distended
• No organomegally
• Femoral pulses B/L palpable
• Hip subluxation or dislocation
• Testis B/L in scrotum
• Primitive reflexes present ,but sluggish
• Chin lift on supine position
• Smile with mother
• hypotonic

18. Summery
• 38 day old baby boy who was born to non
consanguinous healthy parents, presented with
prolonged jaundice
• Sucking poor
• Lethargic
• Reduced crying
• Poor weight gain
• Hx not suggestive of obstructive
jaundice,haemolytic anaemia ,sepsis
• Antenatal and perinatal Hx-uncomplicated

19. Ex
• Jaundice up to sole and palm
• Sutures separated ,widely open fontanella
• 3rd fontanella?
• Eye icteric yellow tinge
• Protruding tongue
• Umbilical hernia
• No organomegally
• Murmur

20. problem
• Prolonged jaundice
• Delayed diagnosis
• Poor weight gain
• Poor socio economic background

21. Differential diagnosis
• Hypothyroidism
• Sepsis –UTI
• Congenital infection
• Biliary atresia

22. INVESTIGATIONS
1) Serum bilirubin levels
 Total – 187.4 µmol/l (5-21)
 Direct -29.2 µmol/l (0- 3.4)
 Indirect – 158.2 µmol/l
Indirect hyperbilirubinaemia
2) Urine for bile - negative

23. 3) FBC
 RBC- 4.15 x 10⁶ / µl
 Hb -15.7 g/dl
 MCV - 110.5
 MCH - 37.8
 MCHC – 34.2
 RDW -14.1
 WBC -9.8 x 10³ / µl
 Neu – 13.4 %
 Lymph -77.3 %
 Plt – 214 x 10³ / µl

24. 4) Blood picture
 RBC changes are suggestive of liver pathology.
 No evidence of haemolysis.
5) Reticulocyte count -1.7 %
6) Blood group – O negative
7) USS Abdomen –
 Mild hepatomegaly with increased echogenicity

25. 8) UFR – NL
9) Urine culture – No growth
10) CRP < 6 g/dl
11) C-Xray + Lumbar sacral spine ; AP & lateral - NL
12) TORCH screening – Awaiting ….
13) Liver enzyme –
 ALT - 35.8 u/l (10-40)
 AST – 69.6 u/l (13-31)

26. LFT
 Albumin -43.6 g/l (30-45)
 T. protein - 62.8 g/l (40-80)
 APTT - 38 sec (25-40)
14) TFT
 FT4 - 0.05 ng/dl (0.89 - 2.2 )
 TSH - > 100 µ IU/ ml (0.72 -11 )
Primary Hypothyroidism

27. MANAGEMENT
• Conservative management
 Breast feeding assessment .
 EBM – 60 cc 2 hrly .
 Daily weight measurement & assess hydration .
 Lactulose syrup 2.5 ml tds

28. • Specific management
 Thyroxine – 37.5 µg mane .
 Cardiac assessment done .
2D Echo –
Moderate size PDA
Two small ASD s
R/V in 3 months / earlier if indicated
 Eye referral .
 USS neck .
• Rpt TFT in 2 wks

29. Prolonged Jaundice
• Yellowish discoloration of skin, sclera & mucous membrane
• Babies become clinically jaundiced when the bilirubin level
reaches 80-120 µmol/L
• Prolonged jaundice;
if term baby - > 2 weeks(14 days)
if pre term baby- > 3 weeks(21 days)
• Prolonged jaundice;
Due to Unconjugated Hyperbilirubinaemia
Due to Conjugated Hyperbilirubinaemia

30. • Unconjugated Hyperbilirubinaemia:
-Congenital Hypothyroidism
-Infection/sepsis( particularly UTI)
-Breast milk jaundice(diagnosis of exclusion)
-Persistent Physiological jaundice
high Hb conc. at birth
short RBC life span(70 days)
less efficient hepatic bilirubin metabolism
-Persisting haemolysis( hereditary spherocytosis, sickle cell
anaemia, G6PD deficiency)
-Polycythaemia
-Crigler-Najjar syndrome
-Extravasated blood- cephalhaematoma
Inborn errors of metabolism-Galactosaemia

31. • Conjugated Hyperbilirubinaemia:(>20% of Total
bilirubin)
( jaundice+ dark urine, pale stools)
-Biliary atresia
-Neonatal hepatitis syndrome
-Choledocal cyst
-Intrahepatic biliary hypoplasia- Alagille’s
syndrome

32. Congenital Hypothyroidism
• Reduced Thyroid hormone production in new
born
• Profound irreversible mental retardation is the
most serious complication which could be
minimized if detect early & treat early
• Prevalence 1:4000
• Girls>Boys

33. • Causes:
1) Dysgenesis( commonest-85%)
Absent/ectopic/hypoplasia
2) Dyshormonogenesis-10%
can have goitre at birth
3) Pituitary failure- isolated TSH deficiency is rare
usually associated with panhypopituitarism,
which usually first manifests with GH & ACTH
deficiency
4) Maternal blocking antibodies
5) Iodine deficiency-commonest cause of congenital
hypothyroidism world wide

34. Presentation
• Infants may be asymptomatic at birth due to
transplacental transfer of T4
• Good babies- sleepy, not crying
• Prolonged jaundice
• Constipation
• Coarse facies
• Dry skin
• Large fontanelles-posterior fontanell is >1cm
• Bradycardia
• Hypothermia

35. • Hoarse cry
• Hypotonia/feeding difficulties
• Lethargy
• Protruding large tongue
• Umbilical hernia
• Goitre-only in minority

36. Diagnosis
• TFT- do after 1 week of age( to prevent false positive
results due to maternal surge of TSH at birth)
-TSH-high(except in pituitary failure)
-T4 –low
• Thyroid scan- US & radio isotope to locate ectopic &
to confirm agenesis
• Bone age- less than chronological age(lower femur
ossification centre should present at birth)
Epiphyseal dysgenesis

37. Neonatal Screening
Heel prick test/Guthrie Test:
Around 5-7 days of life
Done in some developed counties to diagnose
congenital hypothyroidism early
To detect high TSH levels & low T4 level
If abnormal-needs proper venous sample to confim
Not 100% accurate

38. Management
• Once diagnosis is suspected;
TREAT URGENTLY, treatment is usually started before
3 weeks of age
• Thyroxine once daily- morning dose, before breakfast
• Start with 10-15µg/kg
• Adjust according to response(clinical & biochemical)
to maintain normal growth, TSH & T4
• Life long
• Follow up – monitor the patient clinically &
biochemically

39. • Clinically: linear growth, weight gain, development, any
features to suggest hyper/hypothyroidism, overall well being
• Biochemically: T4 & TSH
4-6 weeks after initial treatment
1-3 monthly during first year
2-4 monthly during next year
After 3 years depending on the symptoms & the compliance
• Parental education: life long treatment, complications of
poor compliance & proper administration of medication &
follow up
• Prognosis: Early detection & treatment prevents severe
mental retardation but some may show delay & impairment
even after early treatment.

40. THANK YOU