Here we go again. Round 2

[duff9]

Hi all Its about a year since I posted. My now 10yr old was decompressed comeing up to 2yrs ago in July. He's doing well and due to have an MRI to check his syrinx as his last one was 18mths ago. The decision to do surgery was not difficult due to the syrinx. Yesterday my oldest 13yr  son was also dx with Chairi. I don't have any details as regards herniation etc except to say there is no syrinx. We saw a genetic doctor about a month ago who while agreeing that both boys are very flexible its not enough for a dx of EDS. Not sure that I agree with  him. My son was refered for the Mri due to intermittent complaints  of his leg going to sleep and left sided weakness picked up by the physio as different than when she saw him previously. He has had a couple of episodes of visual disturbances blured vision. I also think he is having some swallowing  difficulties and neck pain. He has not complained of headaches. He has been referred to NS. At the moment he is also on a course of roaccutane for cystic acne. This can cause some of the symptoms as well. My instincts tell me they are chairi related. Because he doesn't have a syrinx will the decision to do surgery be based on symptoms? I should know all this but its like starting from scratch. Also I have yet to tell him about his dx as because of his brother he will be aware of what may happen. He will be told but he has school exams next week. He has a dx of Aspergers/Dyspraxia and Macrocephaly. Can't believe we will go though this again. Also wondering if having 2 with Chairi is unusual. Thanks for listening.

[JohnnyRocket244]

I'm new to this forum and was diagnosed a year ago with Chiari Malformation. The doctor wanted me to go in for another MRI but I didn't think it was related to the problems I was having. Recently I got a rare diagnosis for another condition called May-Thurner Syndrome. It can cause the left sided weakness as well as visual disturbances and difficulty breathing. Unfortunately doctors are only beginning to understand the problems that this condition causes. It's a possibility that like myself, your son may have this other condition as well which is probably much easier to treat. I had a stent placed there recently and almost immediately blood started flowing normally and all the problems I was having dissappeared. I honestly don't know much about Chiari but I just wanted to pass along info about this other common but rarely diagnosed condition that can cause the same problems.

[selmaS]

  What testing was done to determine no EDS then?

There are different types of EDS and the skin is not always involved in that manor....I do not have flexible skin or stretchy skin but my sister does and she does not have a DX or been checked for EDS, I do bruise easily and am slow to heal, have blue sclara and the sacral dimple and hernia's.....and my ROM in joints when manipulated by PT is far more then it should be but I alone can not move like that....lol...
Have someone more familiar with EDS check them both.

[duff9]

He had a full MRI so that was clear apart from the chairi. No biopsies done on either boy. Just told by genetics that there skin not fragile enough or not flexible enough.

[selmaS]

  What MRI's were done to rule out a syrinx? Brain, cervical spine, thoracic and lumbar? Many Drs only check the cervical spine and do not look further...with Chiari a syrinx have been found in all areas of the spine so more testing may be required to rule it out for sure.
So you had biopsies done to rule out EDS?

[duff9]

The Macrocephaly they think is just inherited from his Dad also big headed. They thought he could have a pten mutation but the test was negative. I'm not sure that they do cine MRI here but will ask. Genetics said no for EDS. Not heard of Mast cell desease but will look into it. Have not seen MRI report yet but excess CSF wasn't mentioned by Peaditrican although I don't think she was familiar with Chairi. She told me that as he had no syrinx the chiari was only type 1 and no issue. Thanks for taking the time to reply.

[selmaS]

  Hi Duff and welcome back....sorry for the reason for the return tho.....

It is not unusual to have multiple family members with Chiari....

With no syrinx present you will want to have a CINE MRI done to see if there is an obstruction to CSF flow which will in time cause a syrinx to form...I had this situation and had surgery to help prevent a syrinx.....I also had drop attacks and have several related conditions which symptom wise was taking it's toll on me....surgery was the course of treatment and it seems to have been the best decision I made regarding my health and where I am today post op. I would do it all over if needed. Having the right Dr is key !

With the macrocephaly he does not have any build up of CSF?

There are studies being done,, that some believe that EDS is the reason Chiari develops....so deff get them checked and also look at Mast Cell disease as it is also related.