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What is A 5 year old child is brought to the clinic with abdominal distention. On examination abdominal distention is found to be due to an enlarged liver. Child also developed episodes of uncontrolled hypoglycemia and ketosis. What is the most probable diagnosis? and explain in detail?
This child presenting with hepatomegaly, hypoglycemia and lactic acidosis is most likely suffering from Von Gierke's disease which is a glycogen storage disease. Von Gierke's disease: It is an autosomal recessive disease caused by deficiency of glucose 6 phosphatase in liver, kidney and intestinal mucosa. Features: Children have doll like facies with fat cheeks, thin extremities, protruberant abdomen due to hepatomegaly Kidneys are enlarged, but have normal spleen and hea size Hepatocytes are distended with glycogen and fat Easy bruising, epistaxis Hyperuricemia and hyperlipidemia