Tegretol and paroxysmal kinisgenic dystonia.

[donnajane]

Hi, My little man saw the metabolic unit last week and they said they feel he needs a lumbar puncture and more bloods done. They are going to speak to his Nureo about when it can be done as they are not keen on waiting till the 13th July for his MRI.
His Nureo emailed us back today in response to our weekly email and said he had shown 3 other paedeatric nureologists our sons video and talked with the about other idea of what might be going on. They mentioned Dystonia or PKD (paroxysmal kinisgenic dystonia), which would also need a lumbar puncture so could be tested at the same time as what metabolic are testing for.
On the email the Nureo mentioned he had started our little man on Tegretol as opposed to Epilim as he is not totally convinced what is happening is seizures. He said as the Tegretol is gradually increased over the next few weeks it will help him know more as to what is happening. Could anyone explain what he means by this? Due to my son having so many variants in what he does he is proving vary hard for any specialist to diagnose. We have had 1/2 the specialist say he is definetly having seizures others say they are not sure.
Thanks again for any advice I really appreciate all the help and support everyone gives us on this site in the quest to help our little man.
Donnajane.

 

[Nakamova]

Due to my son having so many variants in what he does he is proving vary hard for any specialist to diagnose.

You hit the nail on the head here. I think your docs are flailing around a bit. The neurologist is hoping that your son's reaction to the meds will indicate one diagnosis over another. But since both Tegretol and Epilim are anti-seizure meds that are also used to treat PKD, it's unlikely that using one over the other will make a diagnosis clear! I do hope they help your son though -- that would be terrific.

Both kinds of Dystonia are muscle spasms disorders that can resemble the jerks that are associated with seizure disorders -- and some doctors actually consider PKD to be a form of epilepsy involving specific parts of the brain. So it's very complicated, and the docs don't really know enough about what's going on in the brain with these disorders.

Ask the specialists what they are looking for with each particular test (lumbar puncture/MRI/blood tests). Are they looking to rule something out, or to rule something in, and what are the possible different results? I hope they can give you some guidance here. It is complicated, but they shouldn't be leaving you in the dark either.