Expert Opinion :
This child has presented with progressive hepatomegaly since infancy and has Doll’s facies. However, the child never has had jaundice. Thus one must consider a differential diagnosis of a storage disorder or hepatoblastoma. Hepatoblastoma normally comes with a huge liver, markedly elevated alpha-fetoprotein, and jaundice. Untreated, it may cause mortality. In this child, she has remained asymptomatic and has never had jaundice or clinical deterioration, thus hepatoblastoma seems unlikely. Among, the storage disorders, one must consider possibilities of Glycogen storage disease (GSD), Niemann Pick’s disease, and Gangliosidosis Type I & II (GM1 & GM2). GSD is characterized by large hepatomegaly, Doll’s facies, and recurrent hypoglycemic episodes. However hypoglycemic episodes may not always be there if the child is taking frequent feeds. GM1 & GM2 & Niemann Pick’s disease has hepatosplenomegaly with a cherry-red spot on funduscopy and delayed development. In this child, development is normal and the cherry-red spot is absent. Gaucher’s disease is characterized by massive splenomegaly and thus is unlikely. Thus, one may consider GSD in this patient. Other evidence for GSD is high lactate and neutropenia which is seen in GSD type 1b. A liver biopsy will prove the diagnosis. For GM1 & GM2 & Niemann Pick’s disease, bone marrow examination is required. In this child, liver biopsy showed glycogen-laden vacuoles in liver parenchyma suggestive of Glycogen storage disease.