Discussions By Condition: I cannot get a diagnosis.

6 month old needs your help-hypotonia

Posted In: I cannot get a diagnosis. 9 Replies
  • Posted By: Anonymous
  • March 21, 2009
  • 05:31 AM

Here's a bit of background info. When born, my son had simian creases on both hands, and at first glance looked as if his head was bigger and ears lower set. A nurse brought up down syndrome, but after measurements the doctors said everything measured normal and he didn't have DS.

Due to switching insurance companies and me having surgery, my son wasn't seen again until he was about 5 months old where they started getting him up to date on shots. As soon as the doctor examined him, he wanted to order a chromosome test. He asked to see his hands and before he could finish the thought, I told him that my son had simian lines, if that's what he was looking for. He told me my son's muscle tone wasn't as good as a 2 month old.

Tests came back that he does not have down syndrome. My son's facial features are perfectly normal, but he has been diagnosed with hypotonia (weak muscles) and of course he has the simian lines. His Physical therapist says that it could just be that he has the Hypotonia, but often it is a symptom of something else.. i.e. muscular dystrophy, etc. They said that paired with the simian lines, we should get a genetic test done to see if there's another issue.

I have looked online all day long at the many illnesses/diseases that can cause hypotonia, and may even explain simian lines and/or other little things he my have. I have narrowed it down to about 6 things. He is very vocal, and the hypotonia is mild. His legs have some strength in them and his hands are very strong, which is more unusual with hypotonia. His arms and shoulders are weak, and he can't sit, and is hunched when held sitting.

If anyone has any idea what this could be considering everything here, it would be a great help to us because it's hard to diagnose the main source of hypotonia. I am making a list for the doctor so that no stone goes unturned. The sooner we piece this together, the better the chance that he will sit, crawl, and walk like any other child.

Thanks in advance

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9 Replies:

  • Well I'm not sure about all of that BUT My husband has worked as active duty and reservist as an Aircraft Mechanic for the Air Force and Air national Guard. He worked there from 2000-2006 and started back up again like 2 months before I got pregnant and continues to work there one weekend a month. Maybe that would be similar to what you are talking about? Thanks for the links, I will check it out.
    Anonymous 42789 Replies Flag this Response
  • hi i can give a hint pleasedo :- visit a neuropediatricien - cyto genetic test - blood tests for metabolic diseases- MRI of brain i can think of spinalmuscular dystrophy or a metabolic disease
    clinic 10 Replies Flag this Response
  • hi i can give a hint pleasedo :- visit a neuropediatricien - cyto genetic test - blood tests for metabolic diseases- MRI of brain i can think of spinalmuscular dystrophy or a metabolic diseaseThank you. The Muscular Dystrophy hits home, that has stuck out to me. I will have all of those tests done. Thanks again.
    Anonymous 42789 Replies Flag this Response
  • Not sure if last post went through. I am going to look into all of this and set him up for tests as the MD seems like an issue. Thanks again for all the help
    Anonymous 42789 Replies Flag this Response
  • Here are two possibilities:http://symptoms.wrongdiagnosis.com/cosymptoms/simian-crease/hypotonia-in-children.htm I am not sure either of these sounds quite right, but I am thinking it is some sort of genetic disorder, I agree with clinic that it could be metabolic, but some of the traits you have suggested such as a large head and low ears do not sound like something I would associate with MD.
    qwertyuiop123 453 Replies Flag this Response
  • My grandson had some of the same symptoms you mentioned, along with others. Try looking up Prader-Willi syndome on the internet. If your son has some of these symptoms call your doctor to refer your son to a endocrinologist... My daughter and I diagnosed my grandson via the internet, so just keep searching and you might diagnose your own child. I hope you will soon have answers.Memaw
    Anonymous 42789 Replies Flag this Response
  • Sorry, don't start off with an endocrinologist... start with a geneticist.
    Anonymous 42789 Replies Flag this Response
  • I agree that you should start with a geneticist, here is a website that lists more conditions related to simian creases http://www.floridahealthfinder.gov/health-encyclopedia/Health%20Illustrated%20Encyclopedia/1/003290.shtml
    qwertyuiop123 453 Replies Flag this Response
  • Please I want to know what is the diagnosis you hav reached till nowmy baby girl has sympyoms just like your dear baby and sh is now allmost 5 monthsI think of mosaic down syndrome although my neurologist say noand he done karyotype for Prader_Willi syndromeI still waithing the results
    Anonymous 42789 Replies
    • November 23, 2009
    • 07:29 AM
    • 0
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