#ir #peds
Metabolic disease
Often children with inborn errors of metabolism-such as galactosemia or urea cycle defects-present with liver dysfunction, including jaundice, in addition to other features (like seizures, sepsis, ascites) depending on the defect. The newborn screen can help rule out these diagnoses.
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CLIPP 8 - neonatal jaundice incompatibility G6PD deficiency
To completely investigate the possiblity of a hemolytic process you need a laboratory test (a peripheral smear).
Hypothyroidism Typically detected by the neonatal screen.
<span>Metabolic disease
Often children with inborn errors of metabolism-such as galactosemia or urea cycle defects-present with liver dysfunction, including jaundice, in addition to other features (like seizures, sepsis, ascites) depending on the defect. The newborn screen can help rule out these diagnoses.
Biliary atresia
Typically presents after 2 weeks of age with progressive jaundice and acholic stools. Causes a direct hyperbilirubinemia.
Intrinsi Summary
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Details