Discussions By Condition: I cannot get a diagnosis.

Help with my niece! Severe neuro/growth problems!

Posted In: I cannot get a diagnosis. 2 Replies
  • Posted By: ConcernedAuntie
  • January 22, 2009
  • 06:13 AM

Hi! My niece is 1 yr old and only weighs 12 lbs. She has 20-50 seizures and infantile spasms a day. She cannot see well or focus on anything at all. She does not move, but seems to be rigid constantly and flexed. Her arms and legs are somewhat flexed and her hands are always in tight fists. Her forehead seems to bulge. She also has a skin condition which will cause a sort of yellow flaky oily result and her mother does an intense skin care regiment every 4 hours. She also has recently begun to grow pubic hair, which is an odd turn of symptoms. She has been seen at Children's in Minneapolis initially and was treated as if her mother was crazy to think any of these symptoms her real. Nice! Now she is being taken seriously at the Mayo in Rochester, but all of her doctors are stumped! They are trying to call an international syposium about her. And are trying to locate any world renowned docs that they can. She has seen genetecists, neurologists, cardio, peds, dermatologists, and many others I cannot remember. She has also started a "ketogenic" or "kinetic" diet that really seems to be helping with her rigidity, but everything else is still there. Please help! Forward this to anyone you think may help! We are desperate- we do not want to lose her!- Concerned Auntie

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2 Replies:

  • Could this be an adverse reaction to a Vaccine...pls consider this...
    Anonymous 42789 Replies
    • January 24, 2009
    • 04:47 AM
    • 0
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  • We use a ketogenic diet in infants and children to produce ketosis, which has an anticonvulsant effect in refractory epilepsy. There are multiple underlying conditions which can cause the symptoms you are observing and in the absence of diagnostic laboratory test data, the range of responses here could be extensive. The onset of pubic hair in of itself does not necessarily constitute pathology unless other signs of pubescence are present as well. If there is a medical history with diagnostic tests and results that can be posted, I would be glad to take a look. Best regards, J Cottle, MD
    JCottleMD 580 Replies
    • January 24, 2009
    • 00:14 PM
    • 0
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