Help please..possibly Chiari I malformation

My daughter who just turned 9 has been having headaches, neck pain, tingling in fingers and toes, pain in her legs, and one morning couldn't walk because her legs hurt so bad. I've been doling out pain medicine like candy. After many trips to the doctor, they finally agreed to do an MRI. The radiologist report states that although her cerebellar tonsils only hang at 4mm, it is indeed Chiari I malformation....My daughter's doctor missed this in the report and told me that her MRI was normal. I was insistent they send me to someone to continue to look into her neck pain and headaches. They sent us to a neurologist who read the report and found what the radiologist wrote. I'm not sure where to go from here. Here is exactly what the report states in the conclusion part: "Although the 4mm extent of the cerebellar tonsillar ectopia is less than 5 mm criteria usually given for Chiari 1 Malformation, the pointed configuration of the cerebellar tonsils would suggest that this is indeed a Chiari I malformation. Recommend correlation with clinical findings and history as to whether this is the cause of patients headaches". Any advice, suggestions or any information would be greatly appreciated. Thank you

Your neurologist should refer you to either a Chiari specialist or a neurosurgeon, depending oh what you've got in your area. It is likely you will have to travel to a larger city if you don't live in one already as Chiari specialists are few and far between. You will want to ensure that the specialist or neurosurgeon is EXPERIENCED in dealing with Chiari. This is incredibly important. Just any old NS (neurosurgeon) will have little knowledge and lean more towards physiology and anatomy than symptoms, weighing pros and cons as well as treatment options. Take a deep breath! Do some searches in the "discussion" pages and you'll find a great wealth of information.

Thank you for taking the time to reply and the advice :)

BestFriendsGoFishing said:

Your neurologist should refer you to either a Chiari specialist or a neurosurgeon, depending oh what you've got in your area. It is likely you will have to travel to a larger city if you don't live in one already as Chiari specialists are few and far between. You will want to ensure that the specialist or neurosurgeon is EXPERIENCED in dealing with Chiari. This is incredibly important. Just any old NS (neurosurgeon) will have little knowledge and lean more towards physiology and anatomy than symptoms, weighing pros and cons as well as treatment options. Take a deep breath! Do some searches in the "discussion" pages and you'll find a great wealth of information.

Thank you Rebecca. I was wondering about her herniation on being 4mm. I will make sure the doctors take her symptoms seriously and that I find someone who has experience with Chiari.

Rebecca said:

Yay for the neurologist offering the diagnosis. I agree with BestFriends. Get in with a Chiari neurosurgeon. There is a list of doctors on this site other members have seen and feel are knowledgeable. MOST neurologist and neurosurgeons as well as radiologists are not trained to identify Chiari yet. My neurosurgeon said proper diagnosis on a regular basis is still 10-15 years down the road. So it is so important to find someone who knows what he or she is talking about. You may have to travel quite far for proper treatment. I have to travel 8.5 hours.

My herniation is barely 5mm and it is causing blockage of my CSF flow. Its not about the length of the herniation. Its about how much CSF is restricted. If your doctor tells you otherwise, its time to find someone else. Also, do tons of research. I think I have read just about everything online about Chiari and related disorders. The more you know, the better able you will be able to tell if the doctor you are choosing is worth your time. Look into other disorders that are common with Chiari, specifically EDS. There are some things you need to rule out before surgery in order to ensure surgery is successful, should you chose that route.

Good luck. Don't give up. Sometimes its a long road to treatment for a Chiari patient. Thanks for advocating for your daughter. Keep us posted and if you have any questions at all, don't hesitate to start another discussion. :)

Jessica, welcome. There are common themes that come with Chiari as far as related conditions/ diagnosis. Not trying to overwhelm you with this, just want you to be informed.

Vitamin d deficiency

Magnesium deficiency

Vitamin Bs deficiencies

Syringomyelia /syrinx- cyst within the spinal cord as a result of CSF hypertension/blocked or partially blocked CSF flow.

Ehlers Danlos syndrome- google the Brighton Critetia and the Beighton Criteria. This can cause cranial cervical instability. CCI further compresses and damages your spinal cord and has the same symptoms as Chiari. This should absolutely be ruled out. If you have EDS and CCI, get the decompression surgery done without correcting the CCI you may continue to have the same symptoms or worsening symptoms- a second surgery will be required. Finding a surgeon who screens for CCI is tough- not all Chiari surgeons have started screening for and treating CCI.

Dysautonomia- Dinet.org

Tethered cord syndrome

Sleep apnea- dangerous, especially if Cranio cervical instability is involved

I am glad you found us,
Jenn

Any information is helpful. Thank you so much.



jcdemar said:

Jessica, welcome. There are common themes that come with Chiari as far as related conditions/ diagnosis. Not trying to overwhelm you with this, just want you to be informed.

Vitamin d deficiency

Magnesium deficiency

Vitamin Bs deficiencies

Syringomyelia /syrinx- cyst within the spinal cord as a result of CSF hypertension/blocked or partially blocked CSF flow.

Ehlers Danlos syndrome- google the Brighton Critetia and the Beighton Criteria. This can cause cranial cervical instability. CCI further compresses and damages your spinal cord and has the same symptoms as Chiari. This should absolutely be ruled out. If you have EDS and CCI, get the decompression surgery done without correcting the CCI you may continue to have the same symptoms or worsening symptoms- a second surgery will be required. Finding a surgeon who screens for CCI is tough- not all Chiari surgeons have started screening for and treating CCI.

Dysautonomia- Dinet.org

Tethered cord syndrome

Sleep apnea- dangerous, especially if Cranio cervical instability is involved

I am glad you found us,
Jenn

I agree with the responses above. Learn as much as you can about the symptoms of Chiari. Each person can present differently. I had a small chiari which presented severe symptoms. A good neurosurgeon who understands chiari will understand this. I have a daughter with dysautonomia and your situation sounds more like chiari than dysautonomia. But, I would recommend having her screened for tethered cord too especially if she is having trouble walking. Chiari and tethered cord can often be seen together. I ended up having both and the tethered cord surgery was incredibly helpful. Good Luck

I am sorry to hear about you and your daughter. This is the first time I ever heard of this and it's all so new. Her symptoms are not always present but the headaches are 3 to 4 times a week. More during weeks when she's in school. The other more severe symptoms happen randomly. The legs cramps and leg pain are more frequent when she's sitting for longer than 30 minutes. It's great to know that the symptoms vary and just having a starting point is wonderful. I really almost dismissed her aches and pains as her being dramatic :(

Thank you for your help and advice!

She may be more symptomatic during the week because she probably isn't able to lay down as much. I always felt better if I could lay down for awhile during the day. You may find this with her. Also, as a mom with a chronically ill daughter for almost 7 years now, with an illness that is for the most part invisible, you do start to wonder if they are being dramatic, especially when it is a new symptom over and over again. It's Ok to feel like that. It's human nature. Just continue to educate yourself and find doctors who will work with you to make the best decisions for her and you.

Thank you hope4change. You said it all when you called it an invisible illness. But I will continue to learn about this and will try to find a great doctor who will help her and be understanding.