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Congenital hypothyroidism

My daughter was born may last year in UK she was given a thyroid test at birth that needed re checking as it was abnormal the second test came back ok, then at 4 weeks my GP requested a test for jaundice that she had at this time, I later got a call from a pediatrician saying that her thyroid had teseted slightly abnormal on a test that had been done along side the jaundice test. Prior to recieving this result the same day I had taken my daughter back to the gp as she was now 8 weeks and seemed very unwell her symptoms were swollen tounge puffy face and body, hypotonia , constipation and lethargic and sleeping all the time by this time she was not quite right. My gp suspected that these were signs of the hypothryiodism and I went straight to hospital with her.

When she started thyroxine we noticed an improvement in her, especially her swelling it went down and she was more alert and awake.

She is now 11months and not meeting her milestones she doesnt sit or babble and doesnt respond very well to people around her she still has hypotonia and is being treated for development delays.

My question is do you think her developmental delays could be due to her hypothyroidism even though it was only borderline on her blood results. She has been tested for almost everything and all normal, so I am sure that a delay in treating her could be the reason she is now experience developmental delays.
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Thankyou
14 Responses
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Avatar universal
Thanks for all your help
Helpful - 0
310293 tn?1274739773
MEDICAL PROFESSIONAL
ok, well the imaging findings are not going to change and be sure if you are waiting till August that you get your full appt's worth of questions addressed, write them down.
Helpful - 0
Avatar universal
Not seeing them untill 13th august and they have not requested to see her any earl so I hope this means they are not concerned about it.
Helpful - 0
310293 tn?1274739773
MEDICAL PROFESSIONAL
Sounds like now you need to sit down with the neurologist or the neurosurgeon and discuss the mri results and what their opinion is, forecast may be hard but explaining the true findings may be made easier face to face
Helpful - 0
Avatar universal
I have had some more detailed info just not sure what it means for her.
Increased extra axial fluid with a small sized head which suggests reduced brain growth?
Helpful - 0
310293 tn?1274739773
MEDICAL PROFESSIONAL
then have your gp call the neuroradiologist personally to get their opinion of their reading, I tend to email ours alot so I can feel better before I speak with the family
Helpful - 0
Avatar universal
thanks for the reply I would have more luck with my gp than the endo.
Helpful - 0
310293 tn?1274739773
MEDICAL PROFESSIONAL
I would ask your pediatric endocrinologist to review the mri results with you.
If the thyroid test is normal then this is what it is, the symptoms are unclear as to whether they are related.
Helpful - 0
Avatar universal
Is it at all possible to have a thyroid test that is only borderline, but still show many physical symptoms that halle did at 8 weeks old?
Helpful - 0
Avatar universal
To be honest I got all the information from my gp as I couldnt get in touch with the peadiatrician.I was told that the report said that white matter and grey matter were ok and that the conclusion was that her brain, looked smaller than it should be.
she didnt mention the pituitary gland. When I did get in touch with the peadiactrician she said the same. I also dont know who reviewed it.
They dont tell me much.
What does it mean to have a smaller brain than normal?
I am so gratefull for your help I dont get any answers from anyone here in england.
Helpful - 0
310293 tn?1274739773
MEDICAL PROFESSIONAL
what else did they say about the mri-white matter, grey matter, pituitary? also be sure a pediatric radiologist reviewed the film.
Helpful - 0
Avatar universal
I had results of her mri today (smaller than normal brain size)
Helpful - 0
Avatar universal
Thanks for the reply she has been seeing a peadicactric endocrinologist since starting thyroxine who insits her symptoms were not thyroid due as her levels wernt significant on bloods. I believe that her symptoms at 2 months were hypothyroid as they reduced with the thyroxine treatment of 25mg per day. They have tried everything to come up with a reason for her development delay tried genetics and Mri scan still no diagnosis.
Helpful - 0
310293 tn?1274739773
MEDICAL PROFESSIONAL
Tough question, it is hard to blame all on the thyroid, the puffy tongue and extreme and obvious symptoms that presented by 2 months were clearly hypothyroid but they caught it relatively early and treated her wtih what she needed. So make sure she is linked up with a peds endocrinologist if insurance permits so that you know she is on the right dose, then consider referral to a developmental specialist and consider even genetic testing. There are several genetic problems that are also associated with thyroid as an aside and the delay may end up being simply that a delay but we don't want to miss anything else besides the thyroid.
Helpful - 0

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