What will be the likely diagnosis in a child with massive hepatomegaly and hypoglycemia, whose blood glucose shows no improvement on administration of glucagon?
Correct Answer: Von Gierke disease
Description: 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
Category:
Pediatrics
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