Hi Everyone. This is my first time posting. I recently discovered "by accident" that my 5 year old has Chiari I Malformation due to a brain MRI that was ordered just to look for a diagnosis of his chronic developmental delays since he was 13 months old (now relatively mild at age 5 but still present to an extent). He was originally given a generic diagnosis of "Global Developmental Delay", Hypotonia (delayed gross and fine motor skills), delayed speech, sensory integration disorder, ADHD-like behavior and speech delay. He's received numerous therapies (PT, OT and ST) and has improved to the point of going to regular Kindergarten next month. They also completed an EEG which was inconclusive and routine bloodwork that didn't show anything unusal. No genetic testing yet but working on that...
Anyway, my 5 year old has been almost entirely asymtomatic of any type of pain issues or headaches up to this point (except unexplained leg or foot pain in bed one night per week or less) but the brain MRI shows that the tonsils are peg-like in shape and extend 27mm below the foramen magnum (which is honestly longer than anyone else I've read about online so far). His neurologist showed me that the tonsils are fully pushed up against what appears to be the back of the spine but that at the moment, there is plenty of space in the spine on the other side in front of the tonsils.
I do understand that this condition is very individual, but is there a high likelihood due to the 27mm tonsil length and the fact that he is only 5 yrs old and still growing, that we should anticipate headaches or other pain symtoms as he grows? His neurologist (who is an excellent Dr but NOT in any way a Chiari expert whatsoever, explained that he could live to age 100 and never develop any pain symptoms.) He also confirmed NO activity restrictions at all at this point even though I am prepared to do so if needed.
The Neurologist was ready to end it there and just do a "wait and see" approach with no additional testing or NS referrals and then I mentioned that I already have a appointment lined up with a NS and insisted that he order the full spinal MRI to rule out syrinx and tethered cord, etc. So he's scheduled next Tues for the full spinal MRI (with and w/o contrast) as well as a basic panel of gentic testing. It took a LOT of convincing just to get the referral for the regular full spinal MRI so I wasn't able to push for the CINE MRI (nor do I know if CINE MRI is standardly available at most imaging facilities to press the issue yet.) Is CINE any more invasive than the regular full spinal MRI? I'd hate to have my 5 yr old go through this twice but again, he is still asymptomatic for now so not sure if it matters. Since we are scheduled in September with a (possible from what I'm told) NS who is a Chiari expert, I figured the NS would order the additional tests if needed. We are also meeting with another NON-Chiari expert Neurologist in 3 weeks and I can try to push the second Neurologist for whatever other tests we may need before the Sept NS appointment.
So again, what are your thoughts on the 5 yr old remaining asymptomatic of pain with 27mm tonsils? How likely are his across the board developmental delays related to the Chiari? Are there any other tests or procedures that I should push for prior to our September NS appointment? Any other words of wisdom much appreciated. Thanks!