Cretinism

A father carried his son into the OPD. Anyone who sees the little boy will pause to take a second look at him.

Yes, by the look itself, he did not look like any other toddler.

He looked like he is 2 years old, but when I saw his details on the card, he is actually 5. His name is K.

He has the stature of a 2-year-old, with a large, protruding tongue being the most distinct feature, and a blank look.

Dr RB, my consultant paediatrician, exchanged looks with us. We knew, she had the diagnosis in her head. K's parents gave us a detailed history.

K is their 4th child among 4 other healthy children. He seemed alright when he was born but after 2 months, his parents noticed that their son was not taking feeds well. He did not seem to be able to swallow the milk fed to him, and often end up chocked. Along with that, they had noticed his tongue getting bigger, which later protruded out from the mouth. Tooth eruption is also delayed. Till today, he is fed with only semi-solids. 

They were also worried as their son passes motion once in 1-1.5 weeks besides sleeping excessively. Besides, K's milestones are delayed. Since the age of 2, he was only able to walk with support. He coos and smiles when he is happy. 

K's hair was sparse, and his skin was cold and dry. Anterior fontanelle was kinda soft. He has a short neck,  supraclavicular deposition of fat, protruding abdomen, short limbs and stubby fingers. Slow pulse rate was recorded. Sluggishness and decreased muscle tone were also observed. 

Thyroid function test revealed that T4 level was only 0.1 mcg/dL (normal range 4-12) and TSH level which should range between 0.3-3.0 mIU/L was above hundred! So, it is primary hypothyroidism and most likely a congenital one (though mother's antenatal history did not suggest anything).

On the X-ray, epiphysis of long bones were barely visible, most carpal bones were not osssified, suggestive of bone age of 1 year.

K was started on Levothyroxine and was told to come back for monthly follow up.

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It is sad to say that K has been brought for treatment pretty late.

His parents are illiterate and live in a village pretty far from a town, explaining their ignorance about the child's special condition and their visits to a so-called local doctor who gave K oral medication to reduce the tongue enlargement. WTH?

However, I noticed something more than their ignorance. K's parents, especially his father, are very concerned and protective over his son. Being poor and uneducated, working as a manual labourer doesn't stop him from giving his unconditional love for his special child. I saw him changing K's diaper one day, and I would say he is definitely gentle and skillful at it. I must have judged him wrongly when he spoke to us a little rudely in Kannada.

K is unique and adorable, not because of his congenital condition, but for who he is. I felt so sorry for him when we had to prick him to collect blood sample. He was apprehensive with strangers around him, but we failed to reassure him probably because he couldn't comprehend. He was scared and cried. His cry was weak and coarse, there were no tears, but it hurts to see the fear and sadness in his eyes. 

K enjoyed banging the railing of the bed against the frame while he was cruising along the bed. He chuckled at the loud sound produced and looked at us, as if he was telling us ''It's fun, you wanna try?'' Even the consultants paused to look and smile at him during the bedside discussion. No one tried to stop him. No one could resist the innocent smile on his face.

I think K does learn things his own way. Someone gave him a phone to play with, he brought it to his ears and started ''talking'' on the phone, smiling all the way. He must have observed the adults doing it. I gave him a keychain with a tiny bear dangling from it and I swing it in front of him. Then he took it from me, swing it also, looked at me and smiled. Later, he went faster and faster, the bear went round and round like riding on a carousel on turbo,  and K got even more happy and excited.

However, K did not like measuring tape. I was trying to take record his anthropometry and he got irritated, pulling the tape away from him. Sorry,boy. 

No matter what, he is still an angel to everyone.
I hope he will improve.