Differential Diagnosis for Hypoglycemia and Hepatomegaly in a Child Less Than 1 Year Old
- Single Most Likely Diagnosis
- Glycogen storage disease type I: This condition is characterized by the inability to break down glycogen, leading to hypoglycemia and hepatomegaly due to glycogen accumulation in the liver. It is a common cause of hypoglycemia and hepatomegaly in infants.
- Other Likely Diagnoses
- Congenital hyperinsulinism: This condition causes excessive insulin production, leading to hypoglycemia. Hepatomegaly can occur due to increased glucose uptake and storage in the liver.
- Glycogen storage disease type III: Similar to type I, this condition affects glycogen breakdown, but it also involves the breakdown of glycogen in muscles. It can cause hypoglycemia and hepatomegaly.
- Fructose-1,6-bisphosphatase deficiency: A rare enzyme deficiency that affects gluconeogenesis, leading to hypoglycemia and hepatomegaly due to accumulation of intermediate metabolites.
- Do Not Miss Diagnoses
- Herpes simplex virus (HSV) infection: Although less common, HSV can cause severe illness in infants, including hypoglycemia and hepatomegaly due to liver involvement. Missing this diagnosis can be fatal.
- Bacterial sepsis: Sepsis can cause hypoglycemia due to increased glucose consumption and hepatomegaly due to inflammation. It is a medical emergency that requires prompt treatment.
- Mitochondrial disorders: These disorders can affect energy production in the liver, leading to hypoglycemia and hepatomegaly. They can be difficult to diagnose but are important to consider due to their potential severity.
- Rare Diagnoses
- Galactosemia: A genetic disorder that affects the breakdown of galactose, leading to hypoglycemia and hepatomegaly due to accumulation of toxic metabolites.
- Tyrosinemia type I: A rare genetic disorder that affects the breakdown of tyrosine, leading to hypoglycemia and hepatomegaly due to accumulation of toxic metabolites.
- Peroxisomal biogenesis disorders: A group of rare genetic disorders that affect the function of peroxisomes, leading to hypoglycemia and hepatomegaly due to accumulation of very-long-chain fatty acids.