Discussions By Condition: I cannot get a diagnosis.

My 2 yr old who is suffering frm Encephalopathy needs help.

Posted In: I cannot get a diagnosis. 4 Replies
  • Posted By: save.sophia
  • April 23, 2009
  • 07:39 PM

My daughter Sophia (2 yrs old) was a very healthy and intelligent little girl. She was walking, running, climbing, talking completely. Until about a month ago out of nowhere we started suffering from seizures. There was no fever or sign of illness. The doctor said she had partial complex seizures. The CT Scan, and MRI showed no signs of abnormality. Only the EEG showed slowing in the right frontal lobe of her brain. The medications she has been on is Keppra, Dilantin, Trileptal, and Ativan. Since she started on medication, she had a lot of very agitated, irate, uncontrollable episodes where she was confused and would inflict pain on herself (scratching, biting). She also continued to have moments of being spaced out and disconnected, and moments where her body or parts of her body would stiffen, some more severe than others. The doctors first said this was probably side effects from the medication, which is why we had to stop and switch her medication after a few days. A week after trials, we brought her to her neurologist and he witnessed one of these agitated episodes and diagnosed that those were a type of her partial complex seizure. We continued another trial of Trileptal with Ativan. About 5 days later I brought her to the ER since there was no improvement and more frequent episodes. She was no longer able to walk on her own, she was hardly talking, she was constantly moving involuntarily (looks like muscle spasms) even when she slept. She was also restless, loosing sleep and had loss of appetite. She even had trouble chewing food. We were admitted, had another MRI. She was on an EMU for 3 days. And took several more tests. By this time, we are in our 3rd week since she started her first seizure. the EMU read activity that were seizures, but during the times she was having her agitated episodes, the EMU read that these were not seizure activity but some kind of abnormal behavior in the brain, which was frequent. The results from the MRI showed complete change in her brain globally.
SO FAR THE DIAGNOSIS: (but not confirmed)
She suffers from seizures, and some type of movement disorder. The bigger picture regarding her brain, the closest diagnosis the neurologist had was that she suffered from Encephalopathy and may be some rare type. The tricky part is that all the tests for probably causes showed up negative.
We can't find the proper treatment if we dont know what is the cause, etc.
My daughter Sophia needs help fast. We are also trying to get a 2nd opinion but I'm trying to reach out for help in different areas. I am trying to get results ASAP because my daughter's deteriation has progressively gotten worse within only a month's time-frame.


A very desperate mother trying to save her baby Sophia,

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4 Replies:

  • So sorry that you have a sick child. Try a genetics doctor asap. 3-MCC deficiencyhttp://ghr.nlm.nih.gov/condition=3methylcrotonylcoenzymeacarboxylasedeficiency http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=oa-overviewThe usual clinical presentation is that of toxic encephalopathy and includes vomiting, poor feeding, neurologic symptoms such as seizures and abnormal tone, and lethargy progressing to coma. Outcome is enhanced by diagnosis in the first ten days of life. In the older child or adolescent, variant forms of the OAs can present as loss of intellectual function, ataxia or other focal neurologic signs, Reye syndrome, recurrent keto-acidosis, or psychiatric symptoms. http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6T50-4PNF9WB-2&_user=10&_rdoc=1&_fmt=&_orig=search&_sort=d&view=c&_acct=C000050221&_version=1&_urlVersion=0&_userid=10&md5=b108db02757990bec63ed8dddd60781c
    Monsterlove 2921 Replies Flag this Response
  • You may want to research the uses of a Vagus Nerve Stimulator (VNS) for the seizures and other brain "disconnects". It is an implant that is fairly straight-forward, but I honestly do not know if there is an age requirement before they will consider it. Might want to check with your neuro doc. Good look with this difficult situation.
    Anonymous 42789 Replies Flag this Response
  • I second the genetics doctor.... they may be able to help get to the bottom of things.I also think that getting a 2nd opinion would indeed be a good idea. (sounds like you are already working on that one)My heart goes out to you, as I can't possibly imagine what you are going through.All the best to you and your daughter.
    Anonymous 42789 Replies Flag this Response
  • Okay, encephalopathy is a possibility but I would tend to doubt it based upon the information provided. There are multiple underlying causes for encephalopathy, viral invasion being the most common. In most cases, however, seizures are not typically the initial symptom. The changes in behavior are, without doubt, due to the partial seizure activity of the right frontal lobe. The changes in motor function observed could be due to the medication as well, particularly the dystonia or constant movement. I would ask whether she has been evaluated by a pediatric epileptologist and whether at any point, her medications were slowly withdrawn to determine changes? This would be a consideration in light of the fact that diagnostic tests up to this point are negative and some children experience transient seizure activity of unknown origin that typically self-resolves. It may be worth back-tracking just a bit and given such a brief period over which the seizures have been demonstrated, approach the symptoms with a different perspective rather than specifically treat it as partial complex seizure disorder. Best regards, J Cottle, MD
    JCottleMD 580 Replies Flag this Response
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