Abstract
Objective – 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. Since classic galactosemia had been suspected and confirmed, a galactose-restricted diet was 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 a galactose-restricted diet is sufficient. It may be useful to perform thyroid function tests also in infants diagnosed with classic galactosemia.
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