Wednesday, July 15, 2009

Neurologist Appointment

Yesterday we took Anna to see the pediatric neurologist to find out the results of her EEG, and to see what she could tell us about Anna's Eye Rolling.

What we found out was, 1) her EEG was perfectly normal for a child her age, and 2) that doesn't tell us a whole lot because in order to give an accurate diagnosis they need to see what her brain activity is doing during one of these episodes. The neurologist also confirmed that children with Down syndrome do have a higher risk factor for neurological disorders, though not significantly higher.

I didn't have the video with me to show the doctor, but, based on my description, and attempt to reinact :), she said that it could possibly be Benign Paroxsymnal Tonic Upgaze (PTU). You can read a little about it here, or you can google it and find many medical journals on the condition.

In summary: Benign paroxysmal tonic upgaze is an ill-defined neuro-ophthalmological disorder with onset in infancy. It consists of sudden ocular movements with sustained upward deviation of the eyes. Episodes disappear with time: spontaneous remission occurs within a few months or years without any change in psychomotor development. EEG and neuro-imaging are unrevealing. To date, the pathogenesis of the condition is still unknown.

The good news about PTU is that it is considered harmless, and that children tend to outgrow the condition.

I also found many videos on youtube of children with PTU. Below is one that really reminds me of what Anna looks like...just a quick rolling of the eyes - and then back to normal.

So -- it could be nothing, as in, just one of those crazy things that babies do. It could be PTU. Or, it could be seizures. The only way to know for certain is to do more testing. Anna's neurologist has suggested that we do a 24-hour EEG, where we try to recreate the episode and capture it on both video and EEG.

Ugh! What a logistical nightmare trying to schedule such a test. And then, if she does not do the eye rolling thing during that 24-hrs, we would have to extend it.

Needless to say, we are debating whether we should bother with the test or not. As much as I want confirmation about what is going on, I also am not as concerned about it as I was a couple of weeks agon. We have Anna's 15-month check-up next week, so I will discuss the options with her pediatrician then.

Either way, keep Anna in your prayers that all is fine and healthy!


  1. Anna's in our prayers. Hopefully her pediatrician will have good options for her/ you. Take care!

  2. How BIZARRE! I only say so because we're going through the exact same thing...our episodes began in June and we had to go to two hospitals before someone was willing to consider that something out of the ordinary was going on...We're also struggling with the same issues regarding the longer say EEG...the short one was monstrous ENOUGH...uggggh...can't wait to check in more often...:0)