Spasticity in myxedematous cretins

ABSTRACT Background: Myxedematous cretinism, a severe and now rare phenotype of congenital hypothyroidism, has become uncommon due to neonatal screening and iodine supplementation. However, myxedematous cretinism may still be encountered in untreated individuals. Summary: We report two rare adult cases of long-standing untreated congenital hypothyroidism, presenting with mixed features of myxedematous and neurological cretinism, including developmental delay, short stature, hypertonia, and hyperreflexia. Imaging revealed ectopic thyroid in one or thyroid agenesis in another. Conclusion: These cases highlight the rare clinical overlap between neurological and myxedematous cretinism. These also underscore the importance of early recognition to avoid unnecessary workup related to neurological abnormality.