cervical spine-Klippel Feil?

[geneticflaw]

First let me say I was diagnosed with thyroid cancer at 18 in 1990.The docs said it was so bad I was born with it and it was altered from the norm, mutated.It required me to have 4 surgeries. Those surgeries removed neck muscle. I mention this as Ive been in constant spasm at least since 1994, if not longer.

Ive had neck problems documented since 1994 theyve progressed and I am in constant severe pain. With development of always tingling both hands-thumb, pointer & middle finger.

recent MRI March 2010:
c4-5:mild circumferential end plate spurring & moderate broad based disc bulging effacing the ventral thecal sac narrowing ap diameter to 9.5mm.

c5-6(5&6):decrease in the ap diameter vetebral bodies, narrowing of the c5-6 intevertebral disc space-compatible with partial congenital fusion.

c6-7:mild circumferential end plate spurring & moderate broad based disc bulging effacing the ventral thecal sac narrowing ap diameter to 10.0mm

mild kyphosis of c4-c7, which may be secondary to congenital fusion of c5 and c6 vertebra or secondary to muscle spasm.

Im currently on Baclofen, the only thing that has just slightly assisted in muscle spasms, yet my spasms are still so bad the doc agreed its almost as if I am taking nothing. I am on morphine sulfate 45mg a day-which helps a little with the pain in my neck muscles, spine & shoulders.

One spine surgeon I saw argued with me and refused to look in his computer at my surgical/path records and said they dont remove muscles in your neck for cancer, yet my path labs say the strap muscles and the one on my left included jugular was sent to path, my surgeon told me they sacrificed alot to remove any nodal bearing tissue. that surgery was a 14 hour bi-lateral modified radical neck diassection including removing nodes from the prartracheal area. The plan at that time was to help me live to see 20-they never expected me to see 38. I feel this surgery has left me to deal with the neck spasms causing my neck issues to progress a tad faster and causing pain.

My neurologist & pain management dr's are real nice fellows. The problem is they tell me I must hit severe due to the complexity of my situation before anyone will try to fix my mess because once severe and Im facing quadrapalegia than they are forced to fix it.

Is this pretty accurate? or should I be seeking some other dr to try to help me?Im in a real gem of a section in florida, the dr's here are not very good. Ive had to explain to one about my tsh being a form of a chemotherapy to stop tumor growth! I am having a hard time finding ones that are willing to help me get better it seems to be take this pill and do 15 rounds of physical therapy. I feel severe, I am in a constant 7 pain,escalating at various times thru the day to 10+. My thumb, pointer & middle finger are now numb for over a month-ncs/emg from june showed I have bi-lateral radiculopathy. My first spine mri reports start in 1999 and show it isnt going away, its progressing and Ive never sought help except for the few times it acted up until now. In fact I had a shoulder debridement/rotator repair in 2000 and dealt with things until now. Its progressed to the point I cant ignore it, I cant sleep, I cant fold laundry, I cant do dishes, I cant watch TV and this note it takign forever since I need to get up and move to reduce the tingling, pain and spasm-Im constantly in pain & tingly.

My neurologist says from a radiologic stand point I am Klippel feil, after I researched things and asked him. In addition to the above I do have an odd shoulder-its pointed out in the 15 rounds of physical therapy and the ortho I saw form 1998-2001 for my shoulder surgery it is elevated and rotated forward.

Im desperate, Im begging someone explain this mess to me and the options I have on trying to get better. What dr I could see to try to fix this or even search the klippel feil better to fix it from that stand point. As a single mother I feel it is unfair to my kids that I am in so much pain all day every day.

[Ladybug2u]

I have this kfs too.  I take homeopathic for Pain.  Ask for MBH #5.  Hildegard-apothecary.com.  She is German homeopath and pharmacist. It has devils claw and this really works.  I'm allergic to all pain meds.  I love this stuff and no hangover.  I'm a rn and my doc tried everything.  Go see a DO. They are doctors just like md but take 700 more hours of school.  They may be able to release the spasm using pressure points and counterstrain. I've tried everything  and the DO helped the best.

[nmac123]

I have this condition too. I have a congenital fusion of C5-6. An accessary Spleen and extra bone in my foot. Very twisty intestines. Ossification of the posterior ligament of my spine. Mod.-severe DDD and arthritis in many other joints. Allergies and small sinusis, ringing in left ear with frequent inflammation and draining.
I had a surgery, that was suppose to be minor, to shave down a spur that was pressing on a nerve that was suppose to be causing my radiating pain. Turns out it didn't work and the NS seemed to have difficulty locating where he was to shave the spur so he had to open my upper back 5" to have a visual. He seemed to have forgotten that I have a congenital fusion.
I have been to many doctors. Most recent (Besides pain management) is a OS. He thinks I am not ready for another surgery. The surgery I am looking at in the future will include "Incision from the front and back and alot of hardware. It probably won't decrease your pain and it may make it worse." I have tried ESI and nerve blocks. Am considering a spinal cord stimulator. I do take Morphine and Muscle relaxants and Oxycontin as soon as I get home from work. I wish I could find out a way to not take the meds. but I must sleep as I must work for the money and insurance. keep us posted of what you find out at your medical appt.
N

[geneticflaw]

Thank you so much, that was alot more information than I've found so far.

I will consider talking to my pain mgt about weed, but I dont think its legal here for meds yet for pain. It scares me because I have a brother, which Im afraid to call that. He started on weed and now on everything he can get.

I will call the march of dimes. Ive made an appt with an orthapedic spine surgeon for the 20th will see what he says, and my neurologist the 22nd which he should redo my nerve study or schedule that day for when to do it. I've dealt with issues sonce noted in 1994, its just these last almost 2 years its progress to cause me to be begging for some real help. Progressed to now my fingers are numb going on 2 months and they are not letting up just getting a little worse every day it seems.

[soul4onegiven]

why in gods name are you afraid of weed? didnt god put it here to be used? its way better for u than the morphine but dont stop taking it lol but u bet it will help them "king john" runs from what ur already on i mean medicaly they dont make an anit nausia pill that works better than weed i never feel drained when i use it i feel better i can eat and take walks for a few hours im tired when done walking but im ok hey im not gonna preach its up to u but i think natural and grows from the ground is a bit better than a basement mix. ok well i wrote down the stuff i said i would for u....

Klippel- Feil Syndrome.

This is a rare disorder chaticrized by the congenical fusion of any 2 of the 7 cervical verterbrea (neck)

Comman signes of the disorder.
- Short neck
-Lower hairline at the back of the head
-Restricted mobility of the upper spine

Assocated abnormalities ma include
-Scoliosis
-Spina bifida
-Anomalies of the kidneys
-Anomalies of the ribs
-Cleft palet
-Respitory problems
-Heart malformations
-Abnormalities of the head and face
-Abnormalities of the spine and sex organs
-Abnormalities of the muscles
-Abnormalities of the brain
-Spinal cord
-Arms
-Legs
-Fingers

Complications
-Kidney infection- nephropathy
-Cranial nerve palsy- dubble vission, brain swelling
-Cervical nerve palsy- compression of the spinal cord
-Synkinesia- miswireing of the nerves or involentary muscular movements
-Mental deficiency
-Spregel anomaly
-Dermoid cyst- on the ovarys
-Paraplegia- imparement in motor/ sensory function of the lower extremities
-Hemiplegia- where half of the body is parlized
-Degenerative disk disorder- usaly associated with lower back pain
-Hearing loss
-Nystagmus- involentary eye movement
-Spinal deformity
-Neck stiffness
-Hemiparesis- half of the body is weeken but not parlized
-Toritcollis- tilt in the head towards one side and the chin is elevated

Treatment

-Surgery to releave cervical or craniocervical instability and consriction of the spinal cord.

Attivities that may hurt the neck should be avoided.

Places that help

March of dimes- ***@****- tel. [phone]
National instute of athritis and musculoseklital and skin disease-301.496.8190, 877.226.4267


General Information
The most comman of the fusion is in the neck at c2-c3

Klippel-fiel syndrom is due to a mutation on the long arm of chromosome 8 at 8q22.2 and its inherited as an autosomal dominate disorter with limited penetrance, klippel-feil malformation is an auotsomal recessive disorder with mutation on 5q11.2.2 c5-c6 fusion is more likely to be autosomal recessive disroder.

Classification
There are three types of cervical vertebra fusion

Type 1 - Is a massive fusion of many cervical and upper thoracic vertebra ionto bony blocks.
Type 2 - Is fusion at only one or twe interspeces. although hemivertebra, occipito-atlantal fusion and other anomlies might also occur.
Type 3 - Is both cervical fusion and lower throracic or lumbar fusion

36% of patients had cervical spine-related symptoms and the majority had axial sympotoms. Axial neck sypmtoms were highly associated with type 1 patents, where as predominant redicular and myelopathic symptoms occurred in type 2 and 3 patients.

It may also occur with fetal alcohol syndrom

20% have neurological problems. That my be produced by hypermobility, some present with pain.
Scoliosis may be congenital or acquired and affects around 60%
High cervical abnornalities can cause acute spinal compression following comparatively minor trama.
Synkinesia is mirror movement of the upper extremity in witch patients are unable to proform a movement of the right hand without proforming the same movement of the left hand. this is disabling in everyday activitys, it may improve with theroy and usaly improves with age.

=Many and varied abnormalities of the renal system have been reported in as many as a third of the cases.
=Torticollis and facial asymmetry with possible craniofacial anomalies affect between a quarter and a half of all sufferers
=Hearing loss can be sensorineural, conductive or mixed as there are many possible defects in the ear.

One study found deafness in 35 of 44-80%
Cardiovascular anomalies occur in 15-30% of the cases, the most common problem is ventricular septal defect.

Investigations
The extent of investigation will depend upon the age of the presention, the nature of the problem and other confounding issues. It may be part of assessing the need for surgery to stabilise the neck.
Sergery carries risks, and intubation for anaestheisa can be dangerous

Test and proceadures
Anteroposterior (ap) and lateral views of the cervical spine are basic. If abnormalities are present, carefull assessment of the atlanto-occipital joint is required. Various other veiws may be required.
- Chest exray, for heart and rib fusion
-CT scan, base of the skull if unlateral
-MRI scan, useful to assess the spinal conal and any abnormalities of the spinal colum such as syringomyelia
-Ultrasound, for immaging of the urnary tract
-Intravenous pyelogram (IVP)
-Hearing tests
-Genetic counsling may be required

Growing may make the two sides of the spine, may make the deformity progressive. Instabillity of the spine requires fixation
Neorlogical defects or prosistant pain require surgery.
Development of the compensatory curve in the thoracic spine may require surgery intervention or bracing.
Symtomatic spinal stenosis may require decompression and fusion

well i hope this all helps  i can get some more information if you need it call the march of dimes and see what they can hook you up with

[geneticflaw]

my neurologist bascially diagnosed me I think, when he said from a radiologic stand point I have klippel-feil syndrome but I need a primary care to clinically test my kidneys and such. I dont have a primary care so I tried to go to one last week and he said my conditions (I also have thyroid cancer) are beyond his abilities and I should seek someone else. Like I said the docs here where I am are really bad, I think they got diplomas from a cracker jack box.Quite possibly they shared the same box! I am lucky to have my neuro & pain mgt dr.

I knew in elementary school something was wrong. I could never play dodge ball and was always that kid that never got picked for a team. At 13 I developed some issues and they never did find out what was wrong and my dad took me to a gazillion specialists. Had constipation to the point my intestines were inflamed, some very odd blood works but i dont know what they were since I was so young, abnormal menses, and I dont remember what else. About a year later I developed fevers that came at night and they did not know why. I had strep throat pretty much 5x a year and bronchitis.

I've had an echo doppler on my heart in the 90's for a birth defect in my aorta valve and leakage of tricuspid. Now I have a doc agreeing with me I have klippel feil once I can find a half way educated primary care I can get that tested again and hopefully my kidneys.

I am on disability due to my cancer, the shoulder thats deformed and doesn't handle well its my left and Im left handed,fibromyalgia, myofascial pain syndrome, and heart birth defect.

My hysterectomy was when I was 30. I had my period for 10 months and they couldn't make it stop. It was also extremly heavy. I had some issue with the uterine lining and ovarian cysts. My daughter I never went into labor with she was 43 weeks and 4 days and they took her c-section. Both my boys I never went into labor so they took them c-dect at 41 weeks. Most of those issues can be from my thyroid cancer though.

I'm afraid of weed. Im afraid of the morphine to though and it makes my stomach so sick. Im going to try to find a dr who will help me.I know Im ready for surgery at least to fix the bulged discs, the bone spurs and try to keep my kyphosis from going more. With my numb hands I know my bulged discs have bulged more or blown.My neurologist said the discs ae probable bulged more, hes going to do another nerve study the end of this month if hands aren't better.Going to try to seek an ortho to, will make that a priority this week.

This has taken me like 3 hours to type sorry its so long

[soul4onegiven]

im so so sorry that you are dealing with this, finding a doctor that can give you the proper diagnosis may be hard since the syndrom is still relitvily unknown i found out i had the fusion when i was 12 by means of a xray at a ciropractnisiner and he told my mom he wouldnt tuch me and to take to a childrens hospital, when i got there they took pictres of me bending and stuff they didnt have a name for it then i was 22 years old when i got the name and proper treatment, its most oviously diagnosed with xray or other imageing. im 27 now best answer for tha would ne a nuroligist and a ortho doc. so ur in the right placethats an amazing amout of drugs wow and no affence but im not  looking forward to more meds thats alot. i can get you a few web sights and a klipple fiel support group sight. i have never personaly met anyone like myself so im sorry if i come accross as nosiy. its not usaly comman to have someone with the same problem to talk to and understands  what they are going through. so when did you first notice your body doesnt work like everyone elts. and they havent totaly diagnosed you? as far as the kidneys go the test they preform is entertaining pee first ok they put in a like a highlighting serum in your arm it feels like your peeing hents the pee first lol and then they run you in a ct scaner to look at your kidneys i deal with kidney infections alot to. get an ecco and make sure you dont have any holes in your hart that test is cool cause they bubble you, its called a bubble test they mis water in the seringe then squirt it in your vean and you cazn see the bubbles on the screen they will tell you if its normal regarding holes.. keep up with physical theripy and try water (like a pool) for loosing the jionts maybe a hot tub if your able that wold help also i know your in morphine but have you tryed a bit more on the natural side for pain, i dont want to loose any crediblity here but i use weed for my pain with the other meds thatim perscribed and u will also be able to have the medical card for it and it wont have such ill side effects cause i know how morphine can be. get on disablity if your arent already and try hard not to over work yourself. the nummin g is hard to deal with but doent really ever go away, do you have any hearing problems? and what happen to your uteris i ask because my feince and i are trying to have another  baby im im curious if i need to keep an eye out for something. also ill try the friend thing  but hun if you need me my number is 575-650-3709 u call me if u need to talk ok my name is heather ok

[geneticflaw]

Thank you for your reply. I will read up on the tortacollic. I dont know how to add you to friends but please do if you know how. I hope you feel better to.

I have a neurologist he said from a radiologic standpoint I have Klippel feil but would need clinical work ups with my primary care. The problem Im finding is it isnt something these dr's are educated in. I've asked 3 dr's about it and now finally this neurologist I see said yes from a radiologic view I do have it.

Ive done a little research and with my shoulder elevated and forward-noted by the 15 times Ive done physical therapy and my old orthopedic surgeon, the congenital fusion, the kyphosis and I have limited range of motion in my neck it fits what I've read. I had a hysterectomy at 30 due to issues so my reproductive was messed up, I suffer kidney infections at least 6x a year.I also have a birth defect in my heart with the aorta valves.

I take 1600mg neurontin, 50mg baclofen for spasms, 45mg morphine for pain and 15mg mobic for arthritis/degenerative disc disease. It helps a little but am still in constant severe spasm and on a scale of 1-10 my pain is 7 hitting 10 several times a day/night. These past 18 months have been bad. Ive dealt well with all this for about 16 years until the last 18months.

What kind of Dr would I see to get the proper diagnosis of klippel feil and to get testing done on my kidneys? I have been trying to figure that out so maybe if I can get the diagnosis from what ever dr makes it I can get someone to fix my neck from that approach.

All Ive been getting is to take pills, do physical therapy, now I am on complete restriction no activity because of the numb hands for 4 more weeks than my neurologist will re-do my nerve studies. He did them in june and found bi-lateral radiculopathy in my c-spine he knows whats going on but isnt fixing it beyond pills and bed rest. An orthapedic surgeon and my pain management dr both said I have spinal instability. Its a money racket here to keep you coming back for more visits and tests and as my neurologist and pain dr said Im so complicated with all of it and combined with the radical surgery for my cancer noone is going to touch me until they have to and Im severe meaning paralyzed or real close. They did 2 cervical x-rays in 2 months. Im desperate for someone to fix me at least bring me to a 4-5 pain lvl and give me back more feeling in my fingers. I design beaded jewelry and I cant do that now with the pain and numbness.

[soul4onegiven]

klippel feil isnt something you just get, your born with it and most wildy goes unnoticed depending on the severity. i have klipple fiel syndrom im 27 the condision does involve fusion of part or the whole uper neck mine is fuses from the skull to c4 all in parchal peices which can be viewed on mri and ct scan tortacollic is usaly accocated with klipple feil wich is what you may be experanceing that condision cause severe mucle spases and cramps and locking feeling, can be rather painful and anyoing i deal with that as well. with the syndrom you would not be able to move your head in one direction but may have ok mobility i cant move mine to the left and consecently i cant hear in the left ear eather. most of the times this syndrom involes the heart and the kidneys and the reproductive system, and the nervis system comes with sever nerve pain that radiates along with that i also have moments where i shake without reason for 30 seconds and im fine and numing it is alot to deal with sergery is best for an instable neck but if your not instable in your neck i would leave it alone keep an eye on it the syndrom is not usaly crimpling. and the pain can be managed. im 27 and have had this all my life it does not go away is a birth defect that happens every 1/155,000 births is usaly heriditary but can be caused by FAS i would see a neroligist first to find a medication that helps with the nerve pain they have me i on 900 mg a day of nerotion and 1000mg of an aintienfamitiory with calms the torticallis keep a watch on it and dont over work yourself and ask me anything you need i have looked into and read alot about klipple feil syndrom ok best wishes and i hope you feel better