engleski

Hypothalamic hypothyroidism in a newborn with classic galactosemia: case report.

Aim - To report a rare case of classic galactosemia and hypothalamic hypothyroidism. Case report - A male newborn presented with failure to thrive, prolonged cholestatic jaundice, sepsis and hypothyroidism. Hydration, empiric antibiotics and L-thyroxine treatment were started. Then as classic galactosemia has been suspected and confirmed, galactose- restricted diet has been commenced. The patient’s health status improved, including the fast recovery of the thyroid function tests. L- thyroxine dosage was decreased two weeks after starting the therapy and completely stopped two months after starting the galactose-restricted diet. Conclusion - Further investigations are necessary to establish whether such patients require treatment with L-thyroxine or galactose-restricted diet is sufficient. It may be useful to perform thyroid function tests also in infants diagnosed with classic galactosemia.

galactosemia ; hypothalamic disease ; hypothyroidism ; newborn

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