Decompression Surgery was not successful - his syrinx is back :(

It is not what we had expected.  After his surgery in 2014 we thought we were all done with this. We thought we were out of the woods and moving on. It turns out that he most likely has other medical issues contributing to the brain malformation which were not known at the time of surgery.

In my previous post I wrote that his syrinx (the bubble in his spinal cord) was smaller 1 year post-op. Now, almost 2 years post op it is bigger. Additionally, his odontoid is now retroflexed which means that it is squeezing his brain stem (yellow circle in first image). The reason for the curved odontoid most likely is that he has joint hypermobility, diagnosed later by genetics.  This is where it gets tricky. He was diagnosed with Noonan Syndrome on August 24, 2014. People with Noonan syndrome can have joint hypermobility that looks a lot like Ehler-Danlos Syndrome 3 (EDS3).  On September 3, 2014 he had posterior fossa decompression surgery with C1 and C2 laminectomy (the bony arches of his top two vertebrae were removed) to make room for his brain.  The thing to note here is that when people with EDS3 have decompression surgery, they also have fusion surgery to stabililize the area. We did not know of the hypermobility when the surgery was done, had we known, the surgeon might not have removed C2?  Decompression surgery is a relatively easy procedure so it is the first surgery of choice for chiari malformation. However, for patients with hypermobility it can open up a whole new can of worms...it can lead to craniocervical instability.

Fast forward to today. What next?  He needs to have a flex-ex dynamic MRI which means they move his head into different positions during the MRI to see how much the odontoid really is pushing on his brain stem.  Then we need to discuss the type of surgery needed. Most likely it is a fusion of his skull to his spine, they do this with plates and screws.  After surgery some mobility is lost but hopefully not too much :(   But, first up is an ophthalmology appointment next week to check on his optic nerve.  Since he has daily headaches, the concern is that he has elevated intra cranial pressure due to the CSF blockage in his spinal canal.  A swollen optic nerve is a sign of elevated pressure. Then in a couple of months another consultation with genetics.

And that is the situation.  We are grateful to be living in the US where there are many "complex chiari" experts and these medical issues are well known.  People come from all over the world for this type of surgery. All we can do now is move on....and educate and advocate!!

MRI - June 2015 - syrinx measures 9mm by 45mm

MRI - May 2016 - odontoid pressing on the brainstem is circled in yellow. Syrinx measures 11mm by 59mm