Case: Liver failure in an infant Presenter: Vikrant Sood Moderator: Ashish Bavdekar Panelists: John Matthai, Anshu Srivastava, Saista Amin

1. CASE PRESENTATION
Dr Vikrant Sood, SR (DM)
Guide - Dr Seema Alam
Pediatric Hepatology,
Institute of Liver and Biliary Sciences,
New Delhi

2. Birth 1 Month 6 months 9 months
13 months/ Male
Term-AGA
NVD
Birth wt 3.5
kg
Facial
Puffiness
Abdominal
Distension
No H/o Jaundice/ Itching/ Clay Stools/
Bleeds/ Irritability/ Altered Sensorium/ LMs/
Vomiting/ Decreased Urine Output/
Respiratory distress/ Seizures
No Consanguinity
ILBS

3. PRESENT HISTORY
 Facial puffiness x 1 months age
 Bilateral, Mostly Periorbital
 Maximum in morning, Minimal decrease till evening.
 Not a/w Pedal edema/ abdominal distention/ oliguria/
polyuria/reddish urine
 Upper abdominal distention x 6 months age
 Painless, Initially progressive- Static x 3 months,
 No fullness of flanks/Pedal edema/oliguria/lump abdomen
 Not gaining weight/length x 4 months

4.  Maternal history:
Age 24 yrs, P1 L1 A0
•No abortions/ stillbirths/ premature deliveries
Family History-
No Liver Disease/ Recurrent Abortions/ Sibling Deaths
 Antenatal History: Uneventful
Dietary History
•EBF x 6 months, On Complementary Feeds now
•No Aversions
Development History-
•Standing with support 10 months
•Monosyllables 5 months, Bisyllables 9 months

5. HISTORICAL EVALUATION
Term/AGA
Onset- Early Infancy
Facial Puffiness, Abdominal Distension
No Jaundice
FTT, Developmental Delay
Normal Family History

6. EXAMINATION
 Vitals- Stable, CRT < 3 Sec
 Wt 8.22 Kg, < 5th %ile
 Length 73.5 cm, 25th %ile
Per Abdomen
Liver-
•4cm BCM/Epi, Span 8 cm
•Firm, Sharp, Irregular
Spleen- 2.0 cm BCM
B/L Kidneys Palpable
No Free fluid, No Veins
CNS Exam: Alert, Normal Power/Tone
CVS/Respi NAD
Pallor +, Afebrile, AF 1.5 x 1.5 cm
Rachitic Rosary/Widened Wrists +
Periorbital Puffiness +
Icterus/Edema/LAP/Cyanosis/
Clubbing/Rash/Dysmorphism/CLD
Stigmata -

7. SYNDROMIC DIAGNOSIS
 Infantile Onset Liver Disease
 Facial Puffiness/Abdominal Distension
 FTT
 Anicteric, Vitamin D Deficiency
 Irregular Firm Liver, Splenomegaly
 Nephromegaly
“Chronic Liver Disease”
History
Exam

8. INFANTILE CHRONIC LIVER DISEASE
MLD
• Tyrosinemia
• HFI
• Mitochondrial
Ds
• Galactosemia
Vascular
• BCS
Inflammatory
• AIH Type 2
Cholestatic
• PFIC Type
2/1
• BASD
No
Ascites
No
Icterus
No Icterus
or
Cholestasis

9. LFT
Ser Bil (T/D) 0.7/0.2
AST/ALT 67/31
SAP/GGT 1193/119
Prot/ Albumin 6.2/3.1
INR 2.28
Other Ix
Hb 6.9
TLC 20700 (N42L51)
Platelets 212000
BU/Creat 13/0.05
AFP (ug/l) 97482
Ca/Mg/PO4 8.3/2.1/1.2
Abnormal synthetic liver
functions
Investigations
Metabolic Screen
pH- 7.346, Lactate- 2.6, Ammonia- 113 µg/dl, FBS- 83 mg % (6 hours),

10. USG ABDOMEN
 Liver- 10 cm, Subtle undulated outlines, Coarse echo
 Few < 1 cm hypoechoic and hyperechoic lesions both lobes
 PV 6.9 mm, GB/CBD normal
 Spleen- Mildly enlarged (span 8.5-cm).
 Kidneys-
 Enlarged in size, Increased echotexture
 Normal shape, positon, outline and
 Normal pelvicalyceal systems
 No free fluid

11. USG ABDOMEN
Small echogenic/hypoechoic Liver lesions, Enlarged kidneys

12. CECT (TP) ABDOMEN
Subtle enhancing/hypoenhancing subcentimeteric lesions & Nephromegaly

13. X RAY WRIST

14. URINE EXAMINATION
 Urine Spot Calcium 10 mg %
 Urine Spot Protein 32 mg %
 Urinary Spot Creat 16.2 mg %
Routine Examination
pH 6.0
Specific Gravity 1.020 (1.015 - 1.025)
Albumin 1 +, Sugar Nil
NGRS ++/++/+
Ketones- Negative
Red Blood Cells (RBC) Nil
Leukocytes 3-4 /HPF
No Casts
•Urine Prot/Creat Ratio 1.98
(Normal < 0.5)
•Urine Ca/Creat Ratio 0.6
(Normal < 0.2)

15. URINARY SUCCINYLACETONE
 Spectrophotometric Method
Result- 360 umol/L
Normal Range < 20 umol/L
 Urine GCMS and Plasma Aminoacidogram
 Non Specific Results

16. FINAL DIAGNOSIS
Failure to Thrive
AFP 1 lacs ug/L
Urinary Succinylacetone +++
Hypophosphatemic Rickets
Renal Tubular Dysfunction
Compensated
CTP 7/15 (Child A), PELD 7
Chronic Liver Disease
(MLD-Tyrosinemia)

17. AFTER ADMISSION
 Modified Low Protein Diet
 Calcium/Cholecalciferol/Calcitriol supplements
 NTBC procurement
 Prognosis explained- LT Discussed

18. TAKE HOME MESSAGE
Infantile Liver disease
Anicteric Child
Renal Disease
Rickets
Rule out Tyrosinemia
AFP as part of Metabolic screen
Advanced liver disease in Infancy
•Think about MLDs
•If high- Check Urine Succinylacetone

21. Age (in days)
N = 524
AFP 95.5% interval (ng/mL)- TERM
babies
AFP 95.5% interval
(ng/mL)- Pre-term babies
(<37 weeks)
Birth ‘0’ 9120-190546 31261-799834
3 6026-125893 21979-711214
7 3524-73261 12589-349945
30-45 30-5754 389-79433
61-90 6-1045 91-39084
91-120 3-417 9-18620
121-150 2-216 4-8318
151-180 1.25-129 3-4365
180-270
0.8-87
8-2630
270-720 4-372
Pediatric Hematology and Oncology 1998; 15: 135-142

22. HR- HB Guidelines, 11.01.2010 SIOPEL

23. CT ABDOMEN
 Liver- Mildly enlarged (10-cm span), Subtle undulated
outlines.
 Few < 1 cm hypoattenuating lesions in right lobe
 No evidence of any arterial enhancing lesion
 PV 6.9-mm , HV and SP axis patent
 Spleen- Mildly enlarged (span 8.5-cm).
 Kidneys- Enlarged, Bulky, Lobulated outlines
 No free fluid

24. PORTAL VEIN SIZE
 4.82 + 0.68 mm
Tropical Gastroenterology 2014;35(2):79–84
 Normal Sizes
 Birth- 3-5 mm
 1 Year 4-8 mm
 5 Year 6-8 mm
 10 Year 6-9 mm
 15 Year 7 – 11 mm
Pediatric Radiology. July 1990, Vol 20, Issue 6, pp 451-453