1. Neonatal jaundice
Surender K Yachha MD, DM
Professor and Head
Department of Pediatric Gastroenterology
Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow

2. Neonatal Jaundice

3. Definition of conjugated jaundice
Direct bilirubin level
>1 mg/dL if total serum bilirubin < 5mg/dL
or
> 20% of the total bilirubin if > 5mg/dL

4. Consensus Report on Neonatal Cholestasis Syndrome
Indian Pediatrics - August 2000, Vol. 37, Number 8

5. How to do it ?
3 wk baby, jaundice
 Does the urine stain diapers:yes
 What is the stool color ?
Confirm
Yellow Confirm Pale Not sure
Confirm
Worried, fast track
+
Nuclear scan
LFT Ultrasound Liver biopsy

6. Case I: 64 days old baby
• Jaundice noticed from day 3 life..
• Diaper staining urine..
• Persistently pale stools from birth
• Not sick
• BW: 2.2kg, No weight gain despite adequate
feeding
• No abnormal facies, dysmorphism, Cataract
• Liver 3cm firm, Spleen:1cm
• CVS: Normal

7. Possibility
First Possibility
Biliary atresia

8. Investigations
TB/DB 10/6.8
AST/ALT 310/125
TP/Alb 5.6/3.6
ALP 1435
GGT 1751
PT 13.1 sec

9. Liver Biopsy
• Ductular proliferation
• Fibrosis
• Widening of portal tracts
• Early cirrhosis
Biliary atresia
Pale stool
Not sick child
USG features
Biopsy

10. Subtype of type 3 atresia with patent gall bladder & distal bile duct but
proximal atresia. The gall bladder though good in size, is filled with mucous.
Type II
CBD, CHD, GB atretic;
Confluence patent
Type 1,
CBD atretic Type III
CBD, CHD, GB atretic;
Confluence not patent

11. Management and follow-up
Confirmed on laparotomy
Kasai Portoenterostomy

12. Follow-up
Successful Kasai
(3mo post-surgery: TB:2.3/DB:0.7)
Pigmented stools
Follow up at 6 months
Thriving. Wt gain present
Bilirubin normal

13. Natural history
Brief period of relative well being
Natural course thereafter same as
Unrepaired BA
“Unrepaired BA”
Failed Kasai
KASAI
Decompensation by 1 ½- 2 yr
Survival beyond 3rd yr unusual
Repeated hospitalisations
Poor QOL
Birth 6mo 1yr 1 ½ yr 2yr 3yr

14. Case II: 90 days old
• Jaundice noticed at D18 of life
• Pigmented stools
• BW: 2.3kg , Wt gain: 30 gm/day
• Uneventful pregnancy, No F/H
• O/E: Not sick, Icterus +
• All consecutive stools - pigmented
• Liver 3cm soft , Spleen 2cm

15. Investigations
TB/DB 7.6/4.4
AST/ALT 224/86
TP/Alb 6.9/3.4
ALP 312
GGT 54
PT 10.1 sec

16. Investigations

17. Follow-up
Sp
le
no
m
eg
a ly Bil
iru Hep
b in a to
me g AST
aly /AL
T
3mo 6mo 9mo 11mo 14mo
Normalized

18. Natural History:
Time to normalize (n=40)
16
Age in mths
12
9 9
8 6.5
4.2 5.1
4
0
aly ubin a l y G OT PT
eg li r eg S SG
om Bi to m
le n pa
Sp He
SGPGIMS experience

19. Case III: 1 year old
• Jaundice, pale stools
• Diaper staining urine since 2 months of age
• Pruritus from 5 mo age
• BW: 2.2kg, Wt gain: poor
• Isolated mild gross motor delay
• No significant antenatal or F/H
Cholestasis, Pruritus
PILBD,A-1ATD,PFIC,Neonatal sclerosing cholangitis

20. Jaundice
Liver:3cm soft, spleen:2cm
Facial dysmorphism CVS: systolic murmur in
2nd intercostal space

21. Investigations
TB/DB 13.3/8.0
AST/ALT 398/250
TP/Alb 7.2/3.5
ALP 1101
GGT 334
PT 11.4 sec

22. Investigations
Liver Biopsy: 1 bile duct out of 9 portal tracts
Paucity of interlobular bile ducts..

23. Final diagnosis
Syndromic PILBD
(Alagille Syndrome)

24. Natural History of Alagille Syndrome
Overall 95% Progression 15% Cirrhosis
Cholestasis and liver failure
LTx
Overall Mortality: 10%
Liver disease: 25% Cardiac, renal, vascular: 75%
Emerick. Hepatology. 1999; 29: 822–9
Lykaveiris Gut 2001;49:431–435

25. Case IV: 4 mo
• Jaundice from 3rd month of life
• Intermittently pale and pigmented stools
• Pruritus 15 days; PILBD, PFIC, A-1 AT def. ?
• Poor wt gain, Normal development
Family history
• H/O Sib death – jaundice, pruritus and
diarrhea at 6mo age, death at 5yrs
• H/O Cholestasis of pregnancy in mother
• O/E: Icterus +
• Liver 3cm soft, Spleen: NP

26. Investigations
USG abdomen
TB/DB 7.6/5.3
Liver heterogenous echotexture
AST/ALT 45/29 Good sized contractile GB
TP/Alb 6.6/3.7
NGRS negative, TORCH/VDRL negative
ALP 630 Normal AFP, Ferritin
GGT 08 Normal Eye exam. X-ray dorsal spine
PT 10.8 sec Normal Lipid profile, ECHO
Liver Biopsy : 2 bile duct out of 20 portal tracts
Paucity of interlobular bile ducts.
Intracanalicular and intracellular cholestasis

27. PFIC
Progressive Familial Intrahepatic cholestasis
Intracanalicular and intracellular cholestasis + Pruritus
Type 1 or 2: Low GGT

28. Management and follow-up
On UDCA and Rifampicin, Cholestyramine
At 2 yr follow-up
Persistently low GGT
Pruritus difficult to control
LFT no improvement
Wt gain present but not satisfactory

29. Comparison
Clinical Parameters PFIC 1 PFIC 2 PFIC 3
Age of onset Infancy Neonatal age Adolescence
Course Relapsing Persistent Delayed
Rate of progression Moderate Fast Slow
Cirrhosis First By 1 year of life Young adults
decade
Pruritus Severe Severe Moderate
Growth retardation ++ +++ -
Extrahepatic manifestations
Diarrhea,
Pancreatitis, Present None None
Deafness, wheeze

30. Natural History of PFIC
4yr
1.5yr n=1 (1.5-7.5yr)
100% 70% 7.5% 0% 50%
Pruritus UDCA response Biliary diversion HCC LTx
100% 58% 30% 26% 47%
5yr 7yr
(1.5-10.5yr (0.4-13yr)
Davit-Spraul A. Hepatology 2010;51:1645-1655

31. Case VI: 37days
Uneventful pregnancy
No F/H
Jaundice with pigmented stools from D10
Seizures
BW:2.9kg

32. Case VI: 37days
TLC , DLC 7900, N70 L30
Platelets 80000
CRP Positive
TB/DB 24/8
AST/ALT 89/79
TP/Alb 3.8/2.8
ALP 434
GGT 78
PT 20.8 sec
not correctable

33. Investigations

34. Management and follow-up
Galactose-free diet (Off breast milk)
At 1 yr follow-up
• LFT normalized
• Coagulopathy corrected
• Organomegaly regressed
• No major intercurrent illnesses
• Steady weight gain
• Normal development

35. Case VII: 3 mo
Uneventful pregnancy
No F/H
Jaundice with pigmented stools
BW: 3 kg
Breast fed
1mo 3mo

36. Case VII: 3 mo
TLC , DLC 16700, N79 L20
Platelets 160,000
CRP Positive
TB/DB 15/9
AST/ALT 913/525
TP/Alb 3.2/1.7
ALP 632
GGT 67
INR 4.2
not correctable

37. Management

38. Case VII… Further course
GAL-1-PUT “normal”
Lactose restarted by lab!!
Ra
pid
dow
Soya feed 2 w nhill
eek cou
s rse
3mo 4mo

39. Long term complications
• Verbal dyspraxia and lower IQ despite strict diet
• Progressive neurological disease: ataxia, tremor
• Hypergonadotrophic hypogonadism
• Infertility in women
Elsas LJ Galactosemia Gene Reviews 1993