Re: TCI and TC diagnosis

[Guest guest]

Hi everyone,

Well, since the latest post string on the parent group seems to be on

conflicting recommendations between NSGs who are considered experts,

and there seems to be a " trend " in the posts specifically regarding

disagreement between professionals when it comes to TC diagnosis at

TCI versus other places, I wanted to bring it up. I know I have seen

this come up before on the list, and I have heard from people

privately who have been very impressed with TCI *until* a diagnosis of

TC was made there that conflicted with other doctors they trusted who

adamantly denied that their children have TC.

Please understand I am NOT saying anything negative about TCI here!!

I am hoping to do everything I can to get my daughter (and maybe

myself) there as soon as we can change insurance companies because I

believe they are the ones who can give us the most definitive answers

as to what she needs. I am simply trying to understand *why* this is

so controversial and hoping people with more experience can shed light

on it! And I'm not trying to beat a dead horse, either. Trust me, I

read ALL the posts related to this. I know people have posted before

who have said they've come away from TCI without a TC diagnosis, but

it sure seems like a minority.

If what TCI does to diagnose OTC is sound, and I think I recall an

article in which only a miniscule percentage of their cases were not

tethered upon opening, why is it more or less scoffed at by other

experts in the field? I mean, I could understand that coming from

other idiots, but from their " colleagues " ???

Currently Ariana (9 1/2) does have a few TC symptoms but not many and

definitely not of the severe nature that many on here discuss.

Certainly not to the degree that I have heard some children have whose

NSGs have insisted did NOT have TC and whose parents have followed

that advice. She has some intermittent leg pain and constipation

(which is more likely because she never drinks anything), and she does

have the hairy tufts on her sacrum area.

One of her MRI or NSG dictations noted a " low lying brain stem " , along

with the 22mm herniation. She also has a retroflexed odontoid.

Currently there are no signs of scoliosis and no SM (though she has

symptoms to suggest CFS restriction). She potty-trained early (both)

and does not seem to have any urinary issues now except that she

doesn't go very often (again low fluid intake) and then when she does

go it seems to be with urgency like she can't hold it.

The NSG she sees here, who is better than the last one but still

chalks all of her symptoms up to being " in a sick household " (which is

absurd), is actually a TC and related syndromes expert (but not

Chiari), and he has not so much as suggested TC. He didn't volunteer

that info. about himself; I dug it up- LOL.

Thanks,

~Beth in CA~

[Guest guest]

Well, I had to respond to this publicly. I'm pasting something below that I

wrote up for people who are new to chiari. (Moderators will have a field day

with this one, I'm sure ;-). So let me STRESS that it includes my OPINIONS,

CONCLUSIONS, and SOME facts. I've provided a few links as well. Remember...I

am just a patient...no medical background.

fyi, I went thru 3 surgeries at TCI:

1. decompression

2. shunt

3. detethering

Surgeries 1 and 2 did nothing to help. As a matter of fact, I ended up with

cervical instability as a result of decompression. BUT the detethering did

wonders for me. And I allowed them to do it while experts at " certain world

renowned hospital in baltimore " were coming out of their chairs insisting it was

reckless and irresponsible. Well....those experts were wrong. I still deal

with neck pain from cervical instability...but I have absolutely no regrets

about any of the surgeries I've had. The tradeoff has been worth it (I

exchanged an 8 year long high pressure headache for occasional neck pain).

Here's the paste:

IF YOU'VE GONE THRU DECOMPRESSION BUT STILL HAVE SYMPTOMS

Very recently, it has come to light that people with chiari may have a unique

and very hard to detect case of tethered cord syndrome called " Occult Tight

Filum Terminale " – also referred to as Occult Tethered Cord Syndrome. OTFT is

even harder to detect than chiari! It's only been since late 2005 that the

Chiari Institute has discovered a trend in people with Chiari to also have OTFT

– I cannot stress enough how new and controversial this all is. Most who have

OTFT are asymptomatic and never realize they have it. So think twice before

dismissing the idea that you may have it.

It is my personal opinion that no person should undergo a decompression

surgery without being exhaustively tested for OTFT. This does not diminish the

importance of pursuing a diagnosis of Chiari - because a diagnosis of Chiari may

support a diagnosis of OTFT.

The spinal cord extends down from the base of the brain. The bottom of the

spinal cord (called the conus) normally floats freely inside cerebral spinal

fluid and ends around the level of the L1 or L2 vertebrae. Traditional tethered

cord is easily detected on an MRI because the conus is snagged - or " tethered " -

on some other low lying structure (such as a vertebrae or the dura) and has been

pulled downward below the normal level of L1/L2 during growth. Depending on

where the tethering is - and at what stage of growth the tethering occurred -

the resulting tether can be mild or quite severe (and quite obvious on an MRI).

Keep in mind that this is traditional tethered cord.

Contrary to traditional tethered cord, OTFT can be impossible to detect with

MRI. Some diagnosis' are made based on symptoms alone. This is considered

controversial by most mainstream doctors. Extending out from the conus is a

fibrous strand of tissue called the " filum terminale " . The filum terminale

anchors the spinal cord to the tail bone. It should be elastic – like a rubber

band – allowing the spinal cord to rise and fall as needed during movement. In

some people, the filum terminale is not elastic as it should be and becomes very

tight.

OTFT is a unique type of tethered cord. Actually, it's technically not a

“tethered cord” at all because the spinal cord itself is not tethered. The

filum terminale is abnormally tight, pulling downward on the spinal cord – in

effect, the same as a tethered cord. Even though the spinal cord is being

pulled tight, the conus can still appear to end at the normal level of L1/L2.

Therefore, an MRI is unreliable in detection.

Some doctors promote a CINE FLOW STUDY OF THE LUMBAR SPINE as the only

reliable way to detect Occult Tight Filum Terminale. A flow study is like a

movie and shows movement of fluid and tissue (imagine a series of MRI images

played back). If the filum terminale is tight, there will be little or no

movement of the conus (end of the spinal cord). If not, the conus can be seen

gently moving up and down as fluid flows and circulates. So, whether the test

denotes " no conus movement " , " little conus movement " , or " normal conus

movement " is of significant importance. I have heard (heresay) that a CINE flow

study can result in a false negative result. An indication of OTFT is reliable.

But an indication that there is no OTFT is not necessarily true. In other

words, you can have OTFT that will not show up on a CINE flow study.

Another test that supports a diagnosis of OTFT is a urodynamic study of the

bladder. OTFT usually affects bladder function. A urodynamic study can reveal

bladder problems that may not be obvious to the patient (i.e. whether the

bladder contracts enough...whether it contracts at the appropriate time).

Bladder problems can be as subtle as frequent urination.

Treatment of OTFT is very straight forward. The filum terminale is cut

(commonly referred to as “detethering”). There are two types of detethering

procedures: open and closed. The open procedure involves opening the dura and

therefore involves more risk (i.e. loss of fluid, meningitis, etc). The closed

procedure is done without opening the dura but may not be as reliable as the

open procedure. Even if a person does have OTFT, the detethering procedure may

not necessarily be appropriate, depending on other factors. Again, talk to your

doctor.

A recent study by Dr. Royo-Salvador at the Neurological Institute in

Barcelona , Spain , suggests OTFT is the cause of chiari – that's right....the

cause of chiari. The study included 20 patients who were detethered to relieve

various symptoms associated with chiari and syringomyelia.

More details can be found at: ( http://tinyurl.com/6o46rh )

http://www.chiari-syringo-news.com/subs%20only/Volume%203/Issue%203(3)/New%20Sur\

gery%203(3).asp” This article points out that a CINE flow study of the lumbar

spine is the most reliable way to detect OTFT.

It should be noted that Dr. Salvador holds the opinion that ALL chiari type I

is caused by OTFT. (whether this is true remains to be seen). In case you'd

like to know my personal opinion...I'm not sure if I believe OTFT is the sole

cause of chiari...but I certainly believe it occurs hand-in-hand with chiari.

Neural tube development logically includes the brain, skull, vertebrae and

spinal cord. I believe the lower back portion of the skull (that portion found

to be small in people with chiari) and the filum terminale (that portion of the

spinal cord that is too tight) are the last structures to form during neural

tube development. It makes sense that, if neural tube development were cut

short, both of these structures might be underdeveloped (i.e. the skull being

too small and the filum terminale being too tight).

Another recent study by Dr Wehby at Emmanuel Children's Hospital in

Portland, Oregon titled “Occult Tight Filum Terminale” proves that OTFT can

occur when the conus is NOT pulled below the normal level of L1 vertebrae. The

study included 60 children who were detethered to relieve various neurological

symptoms. Although this study was done on children, it makes sense that the

same condition must exist in some adults. More details on the study can be

found here (this is only an abstract – the full article can be purchased for

$25):

“http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowAbstract & ProduktNr\

=224273 & Ausgabe=230230 & ArtikelNr=78908”

The full text version of the article states that “Cine MRI to evaluate cord

traction by measuring the degree of motion apparent with each pulsation has been

used in evaluating tethering of the cord in children…”.

The May 2006 issue of Journal of Neurosurgery, Pediatrics contains an article

titled “Occult Tethered Cord Syndrome: The case for surgery” which also

advocates the use of CINE flow study to detect OTFT. You can view this article

online if you sign up for the ACM_EDS_TSC group. It’s located on the groups

home page under “Files”.

Keep in mind that during childhood - or early adulthood - there may be little

or no symptoms of OTFT. Likewise, there are many known cases of Chiari that are

asymptomatic. My guess is that there are many people who live their entire

lives never knowing they have these conditions.

UPDATE: In late 2005, the Chiari Institute began to see their FIRST cases of

people with chiari type I who also have OTFT. In reviewing old cases, many have

been found to have OTFT who were not previously diagnosed. Their protocol for

evaluating and treating patients has totally changed as a result of these new

findings. If a person is found to have OTFT in addition to chiari, the OTFT

will be treated BEFORE anything else is done – because there is such a

likelihood that chiari symptoms will resolve as a result of detethering.

Bottom line: you could very well have OTFT and not know it. Questions to ask

yourself:

1. Do you frequently urinate? Wake up during the night to go?

2. Have you ever had urinary incontinence?

3. As a child, did you have bedwetting problems? Any bedwetting at a late

age?

4. As a child, any pain in the legs?

5. Any bowel incontinence?

6. A history of frequent UTI's?

7. Any lower back pain or discomfort? Even if it's almost

unnoticeable...maybe a slight “pinched” feeling...even if it’s occassional…

8. Any pain or “pinched” feelings in your hips? Again, even if it's almost

unnoticeable...

9. Any lack of sensation in your lower body? Any difficulty

sexually...perhaps you find it more difficult to achieve orgasm than most

people...

10.Any telltale signs on your lower back (just above your gluteal crease)? A

small fatty lump....a dimple....a birthmark....

Check out figure 1 here:

http://pediatrics.aappublications.org/cgi/content/full/105/5/e69

Any odd dimple or indentation in this spot could be an indicator. I had an

indentation here but never even realized it until AFTER I was diagnosed (it IS

usually a bit hidden and you might have to look INSIDE the upper gluteal crease

to see it).

Also, check out figure B here:

http://pediatrics.aappublications.org/cgi/content/full/105/5/e69/F2

My impression is that dimples are the most common type of indicator. They are

otherwise known as “coccygeal pits”.

11. Do you have children? If so, were THEY born with any telltale signs on

their lower backs? Did they test positive for NTD's in-utero?

12.Any oddities about your feet or legs? Flat footed...high arches…pigeon

toed…bow legged?

13. Do you notice any improvement in symptoms when you arch your lower back?

For example, if the sudden urge to urination hits you, can you arch your lower

back (stick your butt out) and the urge lets up?

14. Try sleeping with a rolled up towel under your neck – not only does this

improve cervical posture, it reduces tension on the spinal cord. Does this make

you feel better?

15. As uncomfortable as it sounds, if you have headaches try sleeping with a

small pillow under your lower back. Does this help?

16. Do you crave having your back/neck cracked? Do you find that doing this

makes you feel better?

I personally ONLY had headache (constant) and frequent urination as symptoms.

My diagnosis was made solely based on my symptoms (and the fact that

decompression surgery did nothing to relieve my symptoms). I had no CINE flow

study done...and no urodynamics test. (Again, very controversial). My headaches

were severe but my other symptoms were very subtle. And I've known others with

symptoms as subtle as mine. So, it IS possible to have this condition without

the obvious signs. It takes a very knowledgeable doctor to test for and detect

it. I personally only know of THREE doctors in the world who are aware enough

to catch it:

1.Dr. Paolo Bolognese at the Chiari Institute (TCI) in NY

2.Dr. Wehby at Emmanuel's Childrens Hospital in Portland , Oregon

3.Dr. Royo Salvador in Barcelona , Spain

I have heard that TCI has a new criteria for diagnosing OTFT – some sort of

measurement in regard to the brainstem that gives a definitive diagnosis. This

is heresay so I am not sure of the details.

MY THEORY

My personal theory is that all people with Chiari (an abnormally small

posterior cranial fossa, aka PCF) also have some form of spinal cord tethering

(OTFT being the mildest and hardest to detect).

The PCF and filum terminale both form during the neural tube development

process. Neural tube defects occur when the neural tube does not reach 100%

completion and some internal process gets cut short. The PCF and filum

terminale form as two separate “threads of development” – two things that occur

simultaneously but do not necessarily start at exactly the same time or end at

exactly the same time.

For the sake of explaining my theory, I’ll use an example. Let’s assume that

the PCF finishes developing when neural tube development reaches, say, 97%

complete. And let’s assume the filum terminale finishes when neural tube

development reaches 99% complete. If neural tube development were to reach 98%

complete, it would be true that:

-the PCF developed completely

-the filum terminale did not develop completely

Now, this example assumes that the PCF finishes developing first. This is a

detail that I am not certain about. Perhaps it’s the other way around. But I

strongly suspect this is correct because there are people being diagnosed with

tethered cord but not chiari. I am making these assumptions based on diagnosis’

made by TCI – they have the means to definitively rule out chiari by volumetric

measurement. And they have diagnosed some people with tethered cord but NOT

chiari.

Of course, there are also people being diagnosed with chiari but not tethered

cord. My theory here is that these people actually do have a tethered cord –

the kind that is asymptomatic and cannot be detected on MRI – specifically,

OTFT.

There is no doubt that chiari can be detected by MRI. The Chiari Institute

uses volumetric measurements to confirm diagnosis. However, with some cases of

tethered cord there is no way to make a definitive diagnosis, short of cutting a

person open.

Please keep in mind that this is all my own guesswork. There are factors I

don’t know for sure that could blow my whole theory out of the water:

-the numbers I use here are just examples I pulled out of the air for getting

my point across.

-What if the order of events varied from person to person? What if it were

determined by genetics? What if person A’s filum terminale finishes first but

person B’s PCF finishes first?

-What if the order of events is completely the opposite of what I have

described? I don’t think they are but I could be wrong.

I’ve attached a diagram that puts this theory into perspective (sorry...no

diagram attached). As you look at it, consider this:

we know that the PCF and filum terminale are both part of the overall neural

tube development process. Assuming the PCF completes first (as shown in the

diagram), you could say that everyone diagnosed with chiari (meaning an

abnormally small PCF) must have a filum terminale that has not completely

developed (meaning, at the very least, a tight filum terminale).

Symptoms of OTFT are often relieved by decompression – but usually return

within weeks, months, or in some cases, years. Some may wonder why a

decompression works to relieve symptoms caused by OTFT. The answer is more

simple than you’d think. When a person has OTFT, the spinal cord is pulled

tight between the skull and the tailbone. Think of the game tug-of-war. If the

rope is pulled tight and one person takes a step inward, what happens? The

tension along the entire length of the rope is relieved. A decompression

surgery removes bone at the base of the skull – this allows the brain to descend

slightly which, in turn, relieves the tension on the spinal cord.