What is this?

[Gregfl]

Greetings.  My daughter Emma was diagnosed at 4 months with Infantile spasms and resolved after two days on Acthar Gel.  She continued treatment for 3 weeks 40 ml injections, tolerated acthar well and until recently was asymptomatic.  Her diagnosis was cryptogenic IS.

Recently she started doing a new movement.  She just spent 4 days at all children's and her Veeg was normal, her Contrast MRI including the basil ganglia was normal, her reflux test was negative.  The good doctors at all children's  St. peterbursg ordered an extensive panel of tests that have not come back, but they do not know what is going on with Emma. They have suggested dystonia and stereotypia but it seems they are just throwing these terms out.  Meanwhile Emma is 7.5 months old and otherwise is developing normally.

Here is the video...any ideas?  

http://www.youtube.com/watch?v=HjyyIKxz92E

[Gregfl]

by all other accounts emma seems normal with even above normal development, other than of course her earlier involvement with IS.  This event we captured was the worst she has had as usually she only throws up one or two, and they are usually while she is in a sitting position. Without the spoon both arms go up.    She does not roll her eyes, but if you watch the video closely you see a *blink.  She did a two day VEEG and the doctor is going to send her home with a EEG for the house.

So, to answer your question, without the spoon she still does the *movement, she does not roll her eyes, and it usually has occured while she is in this specific sitting position.

Her mother and I are beside ourselves worried.

[Abhijeet Deshmukh, MD]

Hello.

I must say Emma is very cute. I was wondering what it be like without the teether/spoon in her mouth!! Would she do the same movements then?

It appeared to me that these movements are a little different from the typical stereotyic movements we see. And I was suspecting a significant finding on the EEG. Thankfully the EEG was normal. Just a caution though. A single EEG does not help. There have to be three EEGs, preferably one month apart.

The movements appear to be spasms, not any jerks (myoclonus). Have you observed her during other activities? Does she roll her eyes? Some infants show tics.

Regards