Hi everyone, in December my daughter (age 5) started having episodes of Tachycardia. Then she started having random headaches and she’s lost a little weight. Her pupils keep dilating at random times. She’s had a full cardiology work up, they told me it was an endocrine problem. She was admitted to the hospital on Monday. We came home last night, they did an MRI from the top of her head to her pelvic area. They only thing the found was Chiari 1. The neurosurgeon showed us the MRI. Hers is 14mm and is pressing on her brain stem. He showed us how the fluid isn’t flowing properly, but it is able to “seep” through. He says it is not causing the dilated pupils or tachycardia. The Endochrine doctor doesn’t agree. It’s the only possible thing. If anyone has had similar symptoms? I have a picture of her MRI and the flow. If I can figure out how to post it I will. Thank you.
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Shes pretty young for POTS. But the Cardiologist would have eliminated that possibility as both POTS and Dysautonomia are pretty standard considerations in a childs cardiac workup. EDS would have shown up in the Endocrine workup I would have thought. Brain stem pressure causes bradycardia, never tachycardia so I can understand the confusion. A retroflexed odontoid is USUALLY the result of an injury and easily seen in an an MRI.
It sounds like you have a team hard at work that will get this figured out eventually. No the only possible thing is NOT the Chiari. The only possible thing from the MRI is the Chiari, but the symptoms are inconsistent. Be mom ask for support as you need it. Demand the docs be the docs, but Dr. Google isn't the best doctor by a long shot no matter HOW convincing............
Hopefully other moms will step forward to help you with that.............
EDS is diagnosed by a geneticist and would not show up on an endocrinologist work up.
Chiari is a rare condition and a lot of doctors don’t know much about it and even the experts don’t always agree. I think with any condition rare or otherwise a second or even third opinion is a good idea! Since again this is rare I would try to see a specialist if possible!
As for the Dr. Google comments while I agree it can be dangerous at times it’s always a good idea to study your condition and learn what you can. Not everything applies to each patient but the more you know the better you are able to find the right doctor! A lot of us wouldn’t be here and functioning if we didn’t take initiative and research for ourselves!!!
Leah, I’m sorry you are dealing with this, you must be so stressed. You need a Chiari specialized NS. Yes, dysautonomia is common with Chiari and can absolutely cause tachycardia. I can’t tell from her image if she has a retroflexed odontoid and BI or not but that needs to solved, that is cranio cervical instability and needs to addressed by an NS. Retroflexed odontoid and basilarinvagination are structural in nature and may be the anatomy she was born with…if she has those issues.
If this was my kiddo this is what I would want to know:
*Does she have dysautonomia? pots is a popular type with chiarians but there are other types as well. Check dinet.org. Get clear with the cardiologist if she was screened for dysautonomia. You may also get another cardiologists opinion.
*find a Chiari specialized NS who can screen for cranio cervical instability- here again there are several different types.cCI is retroflexed odontoid, BI, sharp clivo axial angle, and mechanical instability (weak ligaments allow too much motion of the cranio cervical joint).
Ehlers Danlos Syndrome is diagnosed either using the Brighton Criteria and Beighton Criteria or with genetics testing using a tissue sample. There is not a blood test for EDS or hypermobility syndromes. EDS or hypermobility can cause CCI.
Does she have high intercranial pressure?
*Did the Endocrinologist rule out pituitary issues? Some people with high intercranial pressure have a flattened pituitary gland.
You are doing a great job with your daughter. Continue to get to the bottom of whole situation even you need second, third, or fourth opinions. Hang in there mom.
Jenn 
One would of course have to ask but EDS would appear in the initial array that most Endocrinologists do in order to diagnose any hormonal or metabolic issue which are ALL genetic in origin. Most in fact will order a micro array at that point in order to evaluate many of the cognitive/brain issues that can be involved and determine development.future development.
Anglyn said:
EDS is diagnosed by a geneticist and would not show up on an endocrinologist work up.
Chiari is a rare condition and a lot of doctors don't know much about it and even the experts don't always agree. I think with any condition rare or otherwise a second or even third opinion is a good idea! Since again this is rare I would try to see a specialist if possible!
As for the Dr. Google comments while I agree it can be dangerous at times it's always a good idea to study your condition and learn what you can. Not everything applies to each patient but the more you know the better you are able to find the right doctor! A lot of us wouldn't be here and functioning if we didn't take initiative and research for ourselves!!!
Thank you all for the responses. It sounds like I have my work cut out for me in trying to get answers for her. I actually had trigeminal neuralgia, I have a wonderful neurosurgeon that I called today. He does not do pediactrics, but when I told him the radiology report said hers was 14mm he agreed to see her and review the scans. I know a micro array test was done, although it will be several weeks for it to come back. Someone mentioned her sleep habits, she does t not sleep well. Never has. She wakes up several times in the night. She has never had a sleep study and I don’t believe it’s sleep apnea. More insomnia. She is always exhausted. She also continuously complains about ear pain. Every time they check her ears, they tell me her ears look fine. It’s heart breaking knowing that something isn’t right. The endocrine dept was very adamant that they did every possible test. The nurse I talked to today said that the Chiari could possibly be causing her pupils to dilate. Especially since the fluid can’t move properly. My surgeon worked us in next week, I trust him completely. I do need to know what to ask when I see him though. If this is something we need to have fixed I would prefer they do it before she starts kindergarten next year. Thank you all again.
I wish you the best, Leah. It sounds like you are doing a terrific job advocating for your daughter. Keep us posted.
Leah,
To answer your question, yes, I experienced some of what your daughter is experiencing. Chiari 13mm, Brain stem kinking, earache, with no infection, up to age 13, and trouble sleeping well. I had almost no fluid flow around 4th ventrical. I did not know I had Chiari until age 54, so most of my findings were "discovered" then.
That said, some symptoms are similar for different problems. The important thing is do get the best medical care that you can. Sleep Apnea would be something that I would also check for as soon as possible. Trust your feelings and do not be afraid to ask questions of your medical professionals.
Like Beeba, I did a complete battery of tests for EDS. Nothing showed up, but I have classic symptoms. I am in the process of a workup with an Electrocardiophysiologist to test for Dysautonomia, as I have been experiencing a big drop in blood pressure when moving from prone, or sitting to standing, along with rapid heart beat.
I'm so sorry that your daughter, and your family are dealing with all of this. I'm glad you have a good NS that you trust to look at your daughter scans.
Take care,
Pamela
You are one brave mom and given your own experience with TN, must be terrified. I'm glad you are here. We can learn much from you
Leah said:
Thank you all for the responses. It sounds like I have my work cut out for me in trying to get answers for her. I actually had trigeminal neuralgia, I have a wonderful neurosurgeon that I called today. He does not do pediactrics, but when I told him the radiology report said hers was 14mm he agreed to see her and review the scans. I know a micro array test was done, although it will be several weeks for it to come back. Someone mentioned her sleep habits, she does t not sleep well. Never has. She wakes up several times in the night. She has never had a sleep study and I don't believe it's sleep apnea. More insomnia. She is always exhausted. She also continuously complains about ear pain. Every time they check her ears, they tell me her ears look fine. It's heart breaking knowing that something isn't right. The endocrine dept was very adamant that they did every possible test. The nurse I talked to today said that the Chiari could possibly be causing her pupils to dilate. Especially since the fluid can't move properly. My surgeon worked us in next week, I trust him completely. I do need to know what to ask when I see him though. If this is something we need to have fixed I would prefer they do it before she starts kindergarten next year. Thank you all again.