A 9 month old with massive hepatomegaly

Author: Dr Sanwar Agrawal, Ekta Institute of child health, Shantinagar Raipur 492001

Question
9 month old male child born at home by 2nd degree consanguineous marriage exclusively on mothers milk and developmentally normal presented with complaints of distention of abdomen since 4-5 months. There is no vomiting, lethargy, fever, jaundice, malena, hematemesis, or loss of appetite. There is history of death of 3 family members due to renal disorder associated with oliguria in their adulthood, mostly due to progressive renal failure.
On examination, the child was afebrile and vitals were stable. There was no icterus, pallor, lymphadenopathy or edema. On abdominal system examination, there was massive hepatomegaly (liver span 11cm soft to firm consistency) and Spleen 2cm soft. Other systemic examination was normal. There was no free fluid and no signs of liver cell failure. Other systemic examination was normal.

INVESTIGATIONS
Hemoglobin: 9.9
TLC: 10,900/cumm
ESR: 12 mm
Sickling: negative
Serum bilirubin: 1.55mg/dl (Direct 0.4, Indirect 1.1)
ALT: 151
USG: Moderate hepatomegaly with fatty infiltration of liver. No free fluid

What is the possible diagnosis?

Answer Discussion :

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