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What do my MRI scan test results indicate?

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Posted on Mon, 16 May 2016
Question: Siblings . Kid#4-6 yo F- recently Dx w/ 19mm Chiari 1.5 with small syrinx at c6/7 due to w/u for severe behavioral outburst Assoc with what has now been found to be recurrent q3-4 hr hypoglycemia. Also subluxation of c2 on c3. Loss of lumbar lordosis and retro flexed odontoid. Also has GI issues. Mostly constipation, large stool with intermittent diarrhea. Recent issues with vision. Hx of 2-3 elbow dislocations. Severe sleep difficulties Kid#3 9yoM hx of grade 4 bilateral vesicoureteral reflux at age 5 with neurogenic bladder.Recently requiring glasses. Had reimplantation surg at age5 which stopped recurrent infections. Often complains of leg pain, but appears to walk normally. Also has above GI issues.kid #2 20 yo F GI issues. Bloated abdomen and constipation. MRI from 2014 with what appears to be Chiari 1 malformation and retro flexed odontoid. Very active and health conscious. But has to make herself get up due to fatigue. Many childhood elbow dislocations.began fainting at 7 months of age. Glasses at a young age. Recurrent dizziness and occasional fainting as young adult.Difficulty with focus. Issues with crying without a reason. Kid #1 23 yo M- Miserable infant. Constant crying . Severe sleep difficulties. Awful constipation. ADHD meds as child with little effect. Weak lower extremities. Issues with Back and neck pain since childhood. Is it too much of a leap to ask that all 4 children be evaluated with MRI of the brain and spine to rule out Chiari 1 malformation and syrinx due to that history. Currently, the youngest is being worked up only, but I've hit so many walls getting her to this point I am gun shy about making the request to evaluate the other children.
doctor
Answered by Dr. Olsi Taka (1 hour later)
Brief Answer:
Is reasonable for eldest son, not much of an argument for the 3rd.

Detailed Answer:
I read your question carefully and I understand your concern. It is really unfortunate that your children have been plagued by so many health issues.
You say that kid #2, already has had a MRI, I suppose you mean follow up MRI.
It seems that the Chiari malformation is not isolated but more in the setting of a connective tissue disease. Often connective tissue diseases have a genetic component. Some of these are present in many families and so have been studied and characterized, like Ehlers- Danlos for example. There are inherited disorders though which may remained unnamed as are present only in individual families.
In this setting it seems that kid # 1&2 present manifestations of such connective tissue problems given their history of spinal column manifestations. So since these spinal issues tend to progress over the years I would say that the suspicion of Chiari is reasonable and MRIs are justified and can be requested. Of course, that depends a little from regulations, some might argue that if there are no symptoms there is not much to gain from a management point of view so expense is not justified, but given the particular history I would request it especially for kid #1 who hasn't had an MRI (for the 2nd a waiting tactic may be chosen if no new symptoms for some time).
After baseline MRIs are obtained then whether others are necessary in the future will depend upon new symptoms, if there aren't any I would say are not necessary.
As for kid no 3, it is hard to find an argument for a MRI in his case judging from his history, the only argument would be for purposes of research and documentation of this case, rather than to gain any benefit for his health.

I remain at your disposal for other questions.
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
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Follow up: Dr. Olsi Taka (41 minutes later)
The 6 yo female does have identified CM1.5 19mm. The 20 yo had MRI 2 yrs ago for dizziness and fainting and no Findings mentioned to me. I requested images of 20 yo thru medical record request last week and I see CM1. Sent you the image of both girls. 20 year old's not as significant as 6 yr old's in size but, none the less she is having symptoms. I also see retro flexed odontoid on 20 yo. In my research( personal research, I'm certainly just a regular Joe) I am finding correlations with CM, vision issues, severe constipation, tethered cord, EDS etc... My 9 yo son had bilateral grade 4 reflux. BILATERAL VUS in the studies I've found is more common with issues related to the spinal cord ( TC, syrinx are the 2 on my mind). The 9 yo son also recently complained of HA that started with bending over to lift books. School nurse said that he became pale, clammy, dizzy and couldn't sit with head up for a bit. It took about 30 minutes. For him to begin to feel better. I had Always believed the neurogenic bladder was due to the VUR. I never thought of it as the. Reflux being due to the neurogenic bladder. If that is the case, then I have to wonder why does my son have a neurogenic bladder, which leads me back to the issues with my girls. Just want to make sure..... Regarding my son, is that over reaching to request MRI of spine knowing the growing evidence related to the genetics with connective tissue disorders and resulting TC and CM1 and VUR due to neurogenic bladder. Not pressuring for the answer I want, just genuinely want an honest answer with you having appropriate info. Thank you. I appreciate your time. The lack of broad knowledge in medicine about all of the links between CM, EDS, and all of the potential symptoms when there is brain stem, cerebellar and/or spinal cord involvement is really a road block to correct diagnosis. I want to make reasonable but thoughtful requests of our doc who is a genuinely phenomenal guy. Dealing with this is certainly not like my field of expertise, Cardiology, where there is so much known.
doctor
Answered by Dr. Olsi Taka (1 hour later)
Brief Answer:
Since headache and dizziness MRI may be considered for 6 yo as well

Detailed Answer:
Thank you for the additional info.

You do make some good points there. Yes it is possible for the reflux to be in the setting of a neurogenic bladder and for the neurogenic bladder in turn to be in the setting of a spinal cord issue, though not so much chiari as much as TCS and syrinx. Now that you give the additional info about headaches and dizziness episodes I would say there is a good argument for the MRI. However neurogenic bladder very rarely is a lone symptom of spinal cord issues. Usually there is the case of other neurological deficits, motor or sensory ones, altered reflexes and so on. That is why it might be reasonable to have a neurological physical exam for such signs first, prior to doing MRIs right away. I mean you might ask why when MRI makes things much more easy, but at times there are financial questions at play.

I do not want to take me wrong, that you shouldn't ask for it. As I said you make a valid sensible point, there is nothing wrong with what you say, you do not sound pushy at all to me. And you must be the advocate of your children, should not think of costs. Decision at times depends on where you live, medical system there. In some centers/cities/countries MRIs are done routinely for screening purposes, in others may be more difficult to get one, depends on policies. All I mean to say is that if the doctor says a neurological consult is necessary first, or if he's confident there are no neurological signs from his own evaluation, it would be a good point. But you should bring the matter to his attention, whether he/she agrees on MRI or not, so that he considers the issue carefully.

As for your eldest daughter's MRI, I see only one MRI image, which based on the syrinx between C6-C7 I assumed to be of the little one. There are some small images at the bottom of the picture, but most seem to be from the same MRI, only one seems different, but image is so tiny I can't express any judgement. I do have the impression for there to be a CM, but can't see the dens at all. Anyway I still am a little old-fashioned and think symptoms and signs should guide exams, if she has been stable since the first MRI, has no signs on physical exam to indicate syringomyelia, repeat MRI may be reserved for the eventuality there are new symptoms and surgery is considered.

I hope to have been of help.
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
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Follow up: Dr. Olsi Taka (9 hours later)
Hi, I have provided some attachments. Please review them.
doctor
Answered by Dr. Olsi Taka (4 hours later)
Brief Answer:
Read below.

Detailed Answer:
Hello again!

I viewed the image which you added. Now that I got a better view I do not think there is much of a descent of the cerebellar tonsils really, 2 mm at most which is really not much and doesn't cause any symptoms and shouldn't be a cause of syringomyelia.
I agree about the dens being posteriorly displaced on the other hand. Goes in hand with the history of laxity of joints. It can be an issue in the future in case instability increases. In terms of management though whether a MRI is made now or not it wouldn't change the management if there are no symptoms due to it, it is intervened only when there is cord compression clinically. So the reasoning I made before remains, if there are no such signs on neurological exam, I would perhaps reserve the MRI for a later time, in the eventuality such symptoms appear. Hopefully that won't be necessary.

Let me know if I can assist you further.
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
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Dr. Olsi Taka

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What do my MRI scan test results indicate?

Brief Answer: Is reasonable for eldest son, not much of an argument for the 3rd. Detailed Answer: I read your question carefully and I understand your concern. It is really unfortunate that your children have been plagued by so many health issues. You say that kid #2, already has had a MRI, I suppose you mean follow up MRI. It seems that the Chiari malformation is not isolated but more in the setting of a connective tissue disease. Often connective tissue diseases have a genetic component. Some of these are present in many families and so have been studied and characterized, like Ehlers- Danlos for example. There are inherited disorders though which may remained unnamed as are present only in individual families. In this setting it seems that kid # 1&2 present manifestations of such connective tissue problems given their history of spinal column manifestations. So since these spinal issues tend to progress over the years I would say that the suspicion of Chiari is reasonable and MRIs are justified and can be requested. Of course, that depends a little from regulations, some might argue that if there are no symptoms there is not much to gain from a management point of view so expense is not justified, but given the particular history I would request it especially for kid #1 who hasn't had an MRI (for the 2nd a waiting tactic may be chosen if no new symptoms for some time). After baseline MRIs are obtained then whether others are necessary in the future will depend upon new symptoms, if there aren't any I would say are not necessary. As for kid no 3, it is hard to find an argument for a MRI in his case judging from his history, the only argument would be for purposes of research and documentation of this case, rather than to gain any benefit for his health. I remain at your disposal for other questions.