Arnold Chiari Malformation (Kee-arh-ee)

Chiari malformation is an abnormality in rear part of the skull, the posterior fossa and the lower part of the brain called the cerebellum. There are several different forms, the most common type is the Chiari 1 Malformation (CM) Less commonly, it may be known as tonsillar herniation or tonsillar ectopia. Most cases of Chiari are congenital, meaning they are present early development in the womb.
In normal anatomy, the cerebellar tonsils are located just above this line called the foramen magnum. But in an individual with Chiari, the tonsils herniate below the line into the spinal canal. The degree to which the tonsils extend can vary tremendously.
This herniation prevents normal spinal fluid (CSF) flow and causes a pressure build up inside the skull.

The most common symptom of Chiari malformation is a headache, which begins at the back of the head (neck) and radiates upward. Often described as a "pressure wave" and can be brutally debilitating. The pain is often made worse or can be brought on by coughing, sneezing, laughing or straining.

Other symptoms can include:

Painful tension in neck
Fatigue
Migraines
Dizziness
Visual disturbances / loss of vision / spots in vision / double vision / seeing spots or “halos” / nystagmus
Tingling / numbness in the extremeties
General imbalance / clumsiness
Memory loss
Restricted movement
Intolerance to bright light / difficulty adjusting to light change
Vertigo from position change or sudden standing
Difficulty walking on uneven ground / feeling ground under feet
Poor / degraded motor skills
Difficulty driving
Difficulty negotiating steps
Pressure / pain in the neck
Pressure / pain behind the eyes (soreness in the eyeballs)
Back pain
Neck spasms
Insomnia
Ringing in ears (like the tone heard in a hearing test)
Swaying
Pain when changing position
Tingling / crawling feeling on scalp
Intolerance to loud / confusing sounds
Decreased sensation to touch in extremeties
Decreased sensitivity to temperature
Pain & tension along ear / eye / jawline
Difficulty swallowing / lump in throat / sore throat / swollen lymph nodes
Drooling
Spontaneous vertigo
Hand tremors
Poor blood circulation / cold hands & feet
Sinus / mucous problems
Sleep apnea
Decreased muscle tone
Pressure in ears / ears feel stopped up
Nausea
Difficulty reading / focusing on text
Depth perception problems
Burning sensation in extremeties / shoulder blades
Menstrual problems / severe cramping during period
Fluid-like sound in ears (like water running)
Loss of sexual interest / lack of sensation in pelvic area
Pulling sensation while sitting / standing
Intense itchiness w/profuse sweating
Slurred speech
Gag reflex problems / lack of gag reflex
Pressure / tightness in chest
Loss of bladder control
Frequent urination
Dehydration / excessive thirst
Electric like burning sensations
Unequal pupil size
Loss of taste
Popping / cracking sounds in neck or upper back when stretching
Loss of smell / problems with sense of smell
Dry skin and lips

Other issues commonly experienced by Chiarians can include Syringomyelia which is a collection of spinal fluid (CSF) within the spinal cord. This is more commonly referred to as a Syrinx. This can be caused as a result of poor CSF flow which is then forced into the spinal cord as a result of Chiari or as a result of isolated trauma. This in itself can cause similar issues to that of Chiari with regards to movement, dexterity, numbness and tingling and a great deal of discomfort and pain. The symptoms are wide ranging both in appearance and severity and affect each sufferer differently.

How is Chiari diagnosed?

Often with difficulty! Many Chiarians go through common barriers on the frustrating road to diagnosis and then through more barriers to eventually find the right treatment for themselves.

From personal experience and that of fellow Chiarians that I have met, being misdiagnosed is common place. Trapped nerves, hypochondria, depression, sinus issues, MS, ME and a host of other many varied conditions are suggested as a catalyst for the "apparent" symptoms.

Some find issues beyond this stage also with differing opinions of how to treat the condition.

Commonly after many visits and referrals to different medical departments the patient is finally referred for an MRI spine cervical scan. At this point they are hopefully under the care of a Chiari experienced Neuro Surgeon. If not, then this is where further diagnosis and treatment issues arise. The MRI results will be analysed and then a treatment plan is discussed and offered.

Why is it so difficult to initially diagnose?

Well, the basic and honest answer to that comes in 2 parts:

1. There is simply not enough awareness about Chiari Malformation throughout the general medical world. It is not the first thing that springs to a GP's mind when dealing with a patient (nor is it in the patients for that matter)

2. The list of symptoms is so wide ranging, that it could be easily confused with any number of other related and / or un-related conditions. Also the fact that Chiari can affect each patient so differently may present the GP's with a rather confusing scenario to begin with.

Other instances occur when so called "experts" give sufferers the wrong diagnosis because they do not know enough about the condition to make themselves look experienced.

The problem is that the sooner Chiari is diagnosed and dealt with, then the end prognosis for the patient is improved.

How is Chiari treated?

Chiari can actually be asymptomatic for a Chiarians whole life.

If symptoms are mild and not progressing, your doctor may recommend conservative management. Supportive care such as headache and pain management, physical therapy or a reduction in activities can help manage symptoms.

An operation may be recommended. This is referred to as a posterior fossa decompression or foramen magnum decompression. The surgeon makes more room in the back of the head by removing small pieces of the skull and maybe the rear section of the top vertibrae. This reduces compression of the brain stem and allows the tonsils to move back into their natural position. The specific surgical techniques will vary among surgeons; no consensus yet exists on the best variation on this surgical procedure.

Each patient will be evaluated and operated on according to their own situation, no two Chiari patients are the same.

There are a few surgical procedures that can be applied to treat the Chiari, and each individual procedure will suit individual circumstances. Some are regarded as treatment and some exploratory. There are also other drug treatments being suggested that I have not yet looked into. However, I am not medically trained, so I feel that I cannot offer advice on these treatments or procedures.

However, in laymans terms and how I understand it this is my brief treatment cycle. This is where it gets more personally specific.

I was eventually diagnosed with ACM type 1 and Syringomyelia. My herniation was approximately 17mm (which is actually a fairly large herniation against what seems to be the average) and my Syrinx came up on my MRI scan in November 2008 as covering vertebrae C1 to C3. Not a huge Syrinx by most standards, but one which was giving me a lot of painful and debilitating symptoms.

I was under the care of a Chiari specialist at Hope Hospital in Manchester and elected (after discussions) to go for Foramen Magnum Decompression Surgery. This is a procedure that offers the chance to stop the condition progressing (he did say that in a few years time I would probably need a wheel chair if I didn't have my Chiari / Syrinx treated) by creating space within the area of the skull which had become overcrowded with brain tissue. This would allow the CSF to resume a healthy flow and drain and hopefully allow the fluid within my spine to dissipate.

I made the choice because I have a young family and want to do the normal "daddy things" as they grow up. I did not want them to be pushing Daddy around in a wheel chair in 5 years time. My wife and I discussed the risk that is involved with any surgical procedure, the prognosis that I had been given and the benefits of having surgery. I elected to go for surgery as this seemed to be the correct decision at that time (and still does to be honest)

I won't go into too much detail with regards to the actual procedure, as there are different facets to it and not all are done as a matter of course. remember that each patient is different. I basically had part of my skull removed and parts of my top 2 vertibrae "shaved".

This is by no means an end to my Chiairi. The procedure that I went through was only to stop progression. I remain as many patients do with debilitating symptoms, but at least I have had the chance to stop this progressing further. I did see an improvement to my condition immediately after surgery and in the following weeks. Unfortunately 16 weeks after that I am seeing a return to the pre-op times of pain and "lead suit" syndrome. I have insomnia and I am forever exhausted. But at least I know that I have a far better chance now.

As I said, Chiari is below the radar of most GP's and other medical professionals. There is a fair amount on info on the net about it, but from a wide ranging source, usually quite brutal and scary in its content. I scared myself on a number of occasions and kept the information away from my family as a result.

I did however find a really helpful forum http://www.chiari.co.uk which put me in touch with many new friends and fellow Chiarians who offered me help, advice and support. i will be forever grateful to all of the members for helping me get through what I did and for all the practical tips.

Thanks

Chris

P.S.
I have since embarked on starting my own blog in an effort to help raise awareness and provide and portal to help other Chiarians or indeed their families and carers.

I have also met someone who is just as passionate as I am about raising awareness and goes by the name of Laura Hickman. (see her efforts described here http://chiariblog.co.uk/node/5 ) Hopefully Laura and I can work together to help raise awareness in the UK.

Please help by doing what you can for us whilst we are at our fledgling stage. Simply by passing this message around or just re-tweeting the name #chiarimalformation will be invaluable to us.

Note: I am not medically trained and any content described in this blog comes from my own experience or research. It is not meant to substitute information given to you by your own medical professional. It is intended only to give you a personal insight into how my condition has affected me, my views on the subject and observations made form interacting with other Chiarians. This should not replace any advice given to you by your doctor or consultant, but please feel free to use it to help prompt your own questions for your doctor.

Other links:
Glossary
Rare? or just uncommon?
Is Chiari Hereditory? Congenital?