Discussions By Condition: I cannot get a diagnosis.

infant death undiagnosed after 6 months

Posted In: I cannot get a diagnosis. 2 Replies
  • Posted By: Anonymous
  • September 20, 2008
  • 05:25 PM

My daughter passed away at 1 year old. She developed normally until 6 months and spontaneously developed severe chorea movements, multiple seizures, swallowing inability, severe brain atrophy, bleeding in the brain, loss of muscle control, unable to sit. Those are just a few of the many symptoms. Hospitalized many times always resulted in a rapid regression, landing her in PICU on life support. Many tests were done showing us no results. They assumed she had mitochondrial disease but since her autopsy, that has been ruled out. Dr's treated her with mega doses of vitamins to keep her energy levels up in between spells. The only test was the MRI that showed a change in her basal ganglia area of her brain. At her last hospital visit, her MRI had dramatically changed and showed severe bleeding and shrinking of her brain. Dr's said they've never seen such atrophy in a short time. I am searching for any answers that will lead me to someone who has maybe had the same thing and might have a possible name for a disease that the doctors, coroners, etc. aren't able to find.

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2 Replies:

  • If you haven't talked to a geneticist, I would recommend doing so, especially if you're thinking about having more children. Meanwhile, try here: http://www.wrongdiagnosis.com/c/cerebral_atrophy/underly.htm I'm so sorry for your loss. My heart and prayers go out to you.
    aquila 1,263 Replies
    • September 23, 2008
    • 07:12 PM
    • 0
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  • I am so sorry to hear your story. I hope you find some answers.Have you asked the doctors to send her pathology slides and case report to a consulting institution, like Stanford University, or the Military Institute of Pathology at Walter Reed Army Hospital, in Washington, DC?
    marionstar 228 Replies
    • September 23, 2008
    • 10:03 PM
    • 0
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