Case: 15 month child with a fatty liver Presenter: Bikrant Biharilal Moderator: S K Yachha Panelists: Srinivas Sankarnarayanan, Geeta Billa, Ashish Bavdekar

1. CASE: 15 MONTH CHILD WITH FATTY LIVER
Dr. Bikrant Bihari Lal, SR-DM
Guide: Dr Seema Alam
Department of Pediatric Hepatology,
Institute of Liver and Biliary Sciences,
New Delhi

2. 15 month old child with abdominal lump
“Hepatomegaly with bright echotexture”
Samar
15 months/M
iyt
LK
FATTY LIVER

3. WHAT CAN CAUSE FATTY LIVER IN 15 MONTHS
OLD CHILD??
Disorders of
Carbohydrate
metabolism
• Glycogen storage
disorders
• Hereditary fructose
Intolerance
• Gluconeogenetic
defecets
Disorders of lipid
metabolism
• Cholesterol Ester
storage disorders
• Fatty acid oxidation
defects
Mitochondrial
disease
Congenital defects
in glycosylation
Others- CF
INBORN ERROR OF METABOLISM

4. Birth 5 mo 6mo 14mo
15 mo/ Male
Healthy and thriving
well
No generalized
edema
Term/
AGA/N
VD
HISTORY

5. Birth 5 mo 6mo 14mo
15 mo/ Male
Healthy and thriving
well
Term/
AGA/N
VD
Exclusive breast
feeding
Complementary feeds + breast feeds
Aversion to fruit
juices, biscuits
and top milk with
sugar
No H/O jaundice, recurrent fever, GI/ skin/ mucosal bleeds, altered
sensorium/ irritability/ hypotonia/ seizures, developmental delay

6. Family History: Only child of non consanguinous
parents
No H/O Liver disease, sib deaths,
recurrent abortions, chronic diarrhoea
Antenatal, Natal & Postnatal period uneventful
Immunized for age and developmentally normal

7. EXAMINATION
Vitals stable
Wide open
anterior fontanalle
Frontal bossing
Rachitic rosary
No evidence of Vit-A def
No pallor / icterus / LNs
No peripheral stig of CLD
P/A: Distended, faint visible veins +
upper abdomen
Liver palpable 9 cm BCM, 9 cm in
epigastrium, span ~13 cm, firm, smooth
surface with rounded margins, non
tender,
No free fluid / back veins
CVS, RS, CNS- NAD
Developmental assessment - Normal

9. DIFFERENTIAL DIAGNOSIS
Hereditary fructose intolerance
Glycogen storage disorder type 1b
Cholesterol ester storage disorder
Congenital disorder of glycosylation
Mitochondrial disease
Hepatomegaly with diarrhoea, vomiting and
failure to thrive
Normal development
D/D:

10. INVESTIGATIONS
At admission
LFT Bilirubin (T/D) 0.9 / 0.05
AST / ALT 80/100
SAP / GGT (U/L) 71/ 107
Albumin (g/dL) 4.5
PT (s) / INR 12.1 / 1.0
Triglycerides (mg/dL) 419
Cholesterol (mg/dL) 95
Fasting Bld sugar (mg/dL) 88
Arterial Lactate (mmol/L) 0.9
Arterial pH 7.39
Ammonia (microgm/dL) 63
Urine for NGRS Negative

11. HISTOPATHOLOGY
Liver Biopsy- Acinar disarray, Severe macrovesicular
steatosis, Duct damage & Ductular reaction
No PAS +ve (Storage, glycogen) material,
No foamy macrophages

12. HFI GSD 1b CESD
Onset Later infancy
(Complementary
feeds)
< 6 months Infancy to
adulthood
Clinical
presentation
RUQ mass,
Recurrent disarrhoea/
vomiting
(Aversion to sugars)
RUQ mass
Recurrent
infections
Seizures
Early morning
irritability
RUQ mass ±
diarrhoea ± FTT
Infections
Examination Massive
hepatomegaly
Massive
hepatomegaly,
Chubby facies
Hepatomegaly ±
Splenomegaly
Rickets ++ +++ --
Labs Hypoglycemia
Metabolic
abnormalities
Hypoglycemia
Metabolic
abnormalities
Hyperlipoprotinem-
ia
Liver biopsy Macrovesicular
steatosis, Ductular
reaction
PAS +ve diastase
sensitive material
Microvesicular
steatosis, foamy
macrophages

13. 0 hr 30 min 1 hr 1.5 hr 2 hrs 2.5 hrs 20 hrs
Blood sugar (mg/dL) 91 117 129 114 84 37 126
Phosphate (mg/dL) 5.8 - 2.9 - 3.2 3.3 -
Uric acid (mg/dL) 2.5 - 9.1 - 7.9 7.4 -
Magnesium (mg/dL) 2.22 - 3.33 - 3.3 3.2 -
Triglycerides (mg/dL) 206 - - - - 104 -
Arterial pH 7.361 - - - - 7.33 7.36
Lactate (mmol/L) 1.2 - - - - 4.2 1.2
Urine NGRS Negative - - - - 2+ 1+
Urine Ketones Negative - - - - + -
FRUCTOSE CHALLENGE TEST
Positive Fructose Challenge test
Hypoglycemia, Lactatemia
Urine reducing substance & Ketonuria
Hyperuricemia, Hypophosphatemia
Hypertriglyceridemia
Hypoglycemia
Hyperuricemia
Hypophosphatemia
Urine reducing ubstance
& Ketonuria

14. Final Diagnosis:
15 month old child with chronic diarrhoea,
recurrent vomiting, failure to thrive, massive
hepatomegaly and rickets
Metabolic Liver Disease- Hereditary Fructose
Intolerance
Diagnosis of HFI:
Fructose challenge test
Urine chromatography
Aldolase B deficiency in liver biopsy
Mutational analysis: >21 mutations in ALDOB reported-
(A149P, A174D m.c in Europe)- Indian data lacking
V costly &
not easily
available

15. HFI AND METABOLIC IMPLICATIONS

16. MANAGEMENT
 Elimination of all sources of fructose in the diet.
(naturally or added during processing)
 Fructose may be present in medications (Syrups)
& infant formulas- should be avoided
 A list of foods to use & to avoid should be given to
parents
 Sucrose should be replaced with glucose, maltose
and or starch- Sweeteners
 After institution of the diet, most abnormalities
disappear rapidly except hepatomegaly, which
persists for months, or even years
 Vitamin D for rickets/ Other FSV supplement

17. FOLLOW UP
At admission At 6 mo follow up
after fructose
elimination
Weight 7.5 kg 11 kg
Height 74 cm 84 cm
Liver span 13cm 11cm
Bilirubin (T/D) 0.9 / 0.05 0.2/0.1
AST / ALT 80/100 56/60
SAP / GGT (U/L) 71/ 107 81/27
Albumin (g/dL) 4.5 4.6
PT (s) / INR 12.1 / 1.0 11/ 1
Triglycerides (mg/dL) 419 101
Cholesterol (mg/dL) 95 109
Wt gain 3.5 kg
Height gain 10cm

18. SALIENT POINTS
 Children <5yrs with “massive
hepatomegaly ± diarrhoea ± FTT”
IEMs: HFI, GSD, CESD, CDG and mitochondrial disorders
 ‘Onset of symptoms with introduction of
fructose’ & ‘aversion to sugars’- HFI
 Rx- Eliminate all sources of fructose including
syrups – Give diet chart- Prognosis good