What will be the likely diagnosis in a child with massive hepatomegaly and hypoglycemia, whose blood glucose shows no improvement on administration of glucagon?
Presence of hepatomegaly and hypoglycemia along with absence of an increase in blood glucose upon administration of glucagon suggests the diagnosis of Von Gierke disease. Von Gierke disease: Children with Von gierke disease present with hypoglycemia and lactic acidosis and hepatomegaly. ? Type I glycogen storage disease ? Autosomal recessive disorder ? Caused by glucose- 6- phosphatase deficiency in liver. kidney and intestinal mucosa ? Two subtypes: Type Ia; in which the glucose-6-phosphatase enzyme is defective ? Type IIb: in which the translocase that transpos glucose-6-phosphatase across the microsomal membrane is defective. Clinical features: ? Develop hypoglycemia and lactic acidosis during neonatal period. ? Present at 3-4 months of age with hepatomegaly. ? Children have doll like faces with fat cheeks, relatively thin extremities,sho stature and a protuberant abdomen which is due to massive hepatomegaly. ? Easy bruising and epistaxis. Ref: Harrison 17th Edition, Page 2459; Nelson 18th Edition, Page 603, 604, 605
Von Gierke disease
McArdle disease
Cori's disease
Forbe's disease