This document presents a case study of an infant presenting with facial puffiness, abdominal distension, and failure to thrive, ultimately leading to the diagnosis of chronic liver disease and renal tubular dysfunction. The infant exhibited signs of infantile liver disease, including elevated alpha-fetoprotein and abnormalities in liver function tests, alongside renal and nutritional issues. The management plan included a modified low protein diet and vitamin supplementation, with specific recommendations to rule out conditions such as tyrosinemia.

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