A 13 months old infant, presented with failure to thrive, untreated congenital hypothyroidism and pseudo-hypertrophy of limb muscles (i.e. Kocher-Debre-Semelaigne syndrome). The child had delayed motor and mental development. Thyroxin replacement therapy, as well as nutritional support, was initiated.
Two to three weeks after treatment introduction, the motor and cognitive developments were accelerated with striking improvement as if global growth was stopped and switched-on once levothyroxine was given.
This infant is one of the youngest patients reported to have this presentation.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology