What is Chiari Malformation?
(pronounced Key-are-ee)

CM Type I is a congenital or acquired brain disease, many times not showing signs until ages 20-40, although it is possible to have Chiari at any age. Simply, cerebral spinal fluid flow is blocked, causing downward pressure, pushing the lower portion of the brain onto the brain stem causing various symptoms throughout the body. Although not considered a fatal condition, if the disease progresses, it can cause permanent nerve damage if not treated either medically or surgically by a professional familiar with CMI. The condition is different for every person who has it.

 

Chiari Malformation is considered a rare disease and is listed as such on The National Organization for Rare Diseases (NORD) website. It is believed that 1 in 1000 people suffer from Chiari Malformation (newer estimates suggest 1 in 250) and are misdiagnosed for years if not a life time, resulting in chronic, unrelenting pain and issues.

 

My Own Chiari FAQs


How long was your surgery?
Were you in ICU?
How long was your hospital stay?
Do you have EDS?
How long did you have to wait for PT?
Are you in NY?
Do you go back for follow up?
How did he handle your pain?
Will you ever be able to work?
Were there things you wish you would have known/asked before the surgery?
Is Dr B willing to work with your docs at home? Did he explain things to them?

How long was your surgery?
I was in surgery for 14 hours. This is NOT normal. I had a lot of complications.

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Were you in ICU?
Yes. For two days after surgery. I spent my first day after surgery in a medically induced coma.

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How long was your hospital stay?
Five days, including stay in ICU

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Do you have EDS?
Yes. I was just diagnosed this year.

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How long did you have to wait for PT?
I had to wait 6-8 months. I had to be out of my neck brace for a month before I could start.  Even when I started, because I had fusion, my therapist was told not to manipulate my head or neck. My first PT was very hard because I haven’t used those muscles in 7 months.

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Are you in NY?
No, I live in Central Pennsylvania, and traveled to NY for surgery.

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Do you go back for follow up?
Dr. Bolognese was very accommodating. He is able to be reached by email, or by phone, and when I couldn’t get a hold of him, I was able to talk to his nurse or assistant, so I didn’t need to physically go back up. I am able to get my MRI’s and blood work done here, and send it up to him.

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How did he handle your pain?
While in the hospital I was on Percocet, but once I got home, I was on Percocet an Valium, and it made me very sick. I switched to Tylenol 3, and I am now on Norco. I have tried the previous meds, plus Lyrica, Cymbalta ( both did nothing,) Fentynal Patch ( allergic reaction) and now Norco, which is starting not to work.

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Will you ever be able to work?
No. I am on permanent disability. It took three years to get approved for social security.

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Were there things you wish you would have known/asked before the surgery?
http://lifewithchiari.com/2015/10/02/things-i-wish-…-about-surgery/

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Is Dr B willing to work with your docs at home? Did he explain things to them?
Did you do any testing before surgery? Balance test, autonomic testing, etc??

My first bad headache after surgery sent me into a tail spin. I was so afraid of being one of the people the surgery didn’t help. It terrified me. This is a very serious surgery, and not something to be taken lightly. It is NOT a cure, but a way to stop the progression of the disease. Some people will have no more problems, and some people have symptoms return after surgery.  I had to explain everything to each Dr. I saw.

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What is Chiari?


*Signs and symptoms Chiari I
Chiari I symptoms in infants / children:
*Glossary
*Diagnosis and testing
Diagnostic tests may include:
Observation
Activities to Avoid
Surgery
What happens before surgery?
Morning of surgery
*What happens during surgery?
What happens after surgery?
Bathing/Incision Care
When to Call Your Doctor
Recovery
Depression
Flight Assistance
Resources

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*Signs and symptoms Chiari 

Chiari causes all kinds of strange symptoms. People may experience symptoms that range from headache to irritable bowel. The five most common symptoms are:

  1. posterior headache on exertion with neck pain (70%)
    2. hoarseness or swallowing problems
    3. sleep apnea
    4. weakness or numbness in an extremity
    5. balance problems

People with Chiari I often develop symptoms during their teen or early adult years. The disorder is also seen in young children and older adults. In some cases, a head or neck injury from a car accident or sports injury triggers the onset of symptoms. Some patients have had Chiari triggered by a spinal tap or epidural anesthesia.

Listed below are Chiari symptoms grouped by the body area affected:

Headache

  • Pressure-like headaches that start at the back of the skull and may radiate behind the eyes.
    • Headaches that worsen with physical strain, coughing, sneezing, or bending forward (Chiari headaches are often mistaken for migraines)

Pain / spine problems

  • Neck pain, pain across shoulder blades
    • Chest pain
    • General body pain
    • Curvature of the spine (scoliosis) may be present with syringomyelia
    • Joint hyper mobility (Ehler-Danlos syndrome)
    • Tethered cord

Balance / ear problems

  • Ringing or buzzing in the ear (tinnitus)
    • Dizziness, spinning (vertigo)
    • Imbalance, clumsiness
    • Trouble walking (gait)
    • Hearing loss

Eye problems

  • Blurred or double vision
    • Sensitivity to bright light
    • Spots or floaters in your vision
    • Jerking eye movements (nystagmus)
    • Difficulty tracking or following objects with your eyes

Sleep problems

  • Snoring
    • Sleep apnea
    • Fatigue
    • Inability to fall or stay asleep (insomnia)

Face and throat problems

  • Difficulty swallowing, choking and gagging
    • Facial pain, numbness or tingling
    • Hoarseness, change in voice
    • Chronic cough

Problems in arms and legs (spinal cord signs)

  • Numbness or tingling in arms / hands / legs
    • Weakness in arms / hands / legs
    • Poor hand coordination
    • Loss of feeling in arms / hands
    • General body weakness

Thinking (cognitive) problems

  • Trouble speaking, word finding
    • Trouble thinking
    • Problems with memory and concentration
    • Depression or mood changes
    • Nervousness or anxiety

Other problems

  • Nausea and vomiting
    • Abdominal pain
    • Frequent urination
    • Irregular heart beat, palpitations
    • Passing out episodes, syncope

 

Chiari is often misdiagnosed because of the variety of bony and soft tissue abnormalities that compress the spinal cord, brain stem, cranial nerves, or blood vessels, resulting in a wide array of possible symptoms. In fact, the diagnosis is often delayed until symptoms become severe or persistent. However, accurate diagnosis and an effective treatment plan are important to prevent further injury to the person’s nervous system.

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Chiari I symptoms in infants / children:

Trouble feeding and swallowing
Excessive drooling
Noisy breathing (strider), especially with crying
Apnea (stop breathing spells)
Irritability, head banging and nighttime awakening (signs of headache)
Stiff neck
Poor arm strength (trouble crawling)

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*Glossary

Basilar invagination: (basilar impression) a rare condition in which the upper portion of the second cervical vertebra (C2) migrates upward and back into the intracranial space. It can be associated with other conditions, such as rheumatoid arthritis, Chiari malformation, syringomyelia, C1-2 instability, or congenital abnormalities.

Cerebrospinal fluid (CSF): a clear fluid produced by the choroid plexus in the ventricles of the brain. CSF bathes the brain and spinal cord, giving them support and buoyancy to protect from injury.

Cerebrospinal fluid (CSF) leak: the fluid surrounding the brain can escape through a hole in the dura lining the skull; may require surgery to patch the leak.

Cervical: the neck portion of the spine made up of 7 vertebrae.

Craniectomy: surgical removal of a portion of the skull. Decompression: opening or removal of bone to relieve pressure and pinching of nervous tissue.

Dura mater: the outer protective covering of the brain.

Dural patch: (also called a dural graft, dural substitute, duraplasty) a piece of tissue used to close or extend the dura mater in surgery. Material may come from the patient’s scalp (autologous), cow, collagen, or synthetic.

Ehler-Danlos syndrome (EDS): a rare genetic defect in collagen that affects connective tissue (e.g., joints, skin, blood vessels). Collagen is a protein, which acts as a “glue” in the body, adding strength and elasticity to connective tissue. There are six types of EDS. Types I – III cause joint hypermobility; joint dislocations and scoliosis are common.

Fibromyalgia (FM): a chronic pain illness characterized by widespread musculoskeletal aches, pain, and stiffness; soft tissue tenderness; fatigue; and disturbs sleep, memory and mood. Many people with fibromyalgia also have tension headaches, temporomandibular joint (TMJ) disorders, irritable bowel syndrome, anxiety, and depression. Chiari is often misdiagnosed as fibromyalgia.

Glossopharyngeal neuralgia: a painful disorder of the ninth cranial nerve (glossopharyngeal nerve). Irritation of this nerve causes intense pain on one side of the throat near the tonsil area that can radiate to the ear.

Herniate: to protrude through the wall of the cavity in which it is normally enclosed.

Hydrocephalus: an abnormal build-up of cerebrospinal fluid usually caused by a blockage of the ventricular system of the brain. Increased intracranial pressure can compress and damage brain tissue.

Intracranial pressure (ICP): pressure within the skull. Normal ICP is 20mm HG.

Intrathecal space: the space surrounding the spinal cord through which cerebral spinal fluid (CSF) flows; also called the subarachnoid space.

Marfan’s syndrome: a genetic disorder in which patients develop skeletal defects in long bones, chest abnormalities, curvature of the spine, and circulatory defects.

Multiple sclerosis: a chronic degenerative disease in which the body’s immune system eats away at the protective sheath (myelin) surrounding nerves in the brain and spinal cord. The symptoms often come and go and vary widely depending on the affected nerve fibers. Chiari is often misdiagnosed as MS.

Myelopathy: a broad term referring to spinal cord dysfunction of any cause. Some processes that lead to myelopathy include transverse myelitis, injury, arthritis, vascular malformation, vertebral fracture from osteoporosis infection or malignancy, or syrinx an enlarged cyst within the spinal cord).

Paget’s disease: also known as osteitis deformans, a bone disease in which normal bone is destroyed and then replaced with thickened, weaker, softer bone. This weaker bone easily bends and deforms. Most often affects the pelvis, thoracic and lumbar spine, skull, femur, tibia, fibula, and clavicles.

Platybasia: a malformation of the occipital bone (clivus), literally flattening of the skull base. It may be developmental in origin or due to softening of the skull base bone, allowing it to be pushed upward as in basilar invagination. It is associated with other congenital bone abnormalities, such as fusion of the first cervical vertebrae to the skull (atlas assimilation).

Pseudomeningocele: an abnormal collection of cerebrospinal fluid (CSF) that communicates with the CSF space around the brain or spinal cord. Unlike a meningocele, the fluid has no surrounding membrane but is contained in a cavity within the soft tissues.

Scoliosis: an abnormal side-to-side curvature of the spine.

Shunt: a drainage tube to move cerebrospinal fluid from inside the ventricles of the brain into another body cavity (e.g., abdomen).

Subarachnoid space: the space between the pia and arachnoid mater of the brain and spinal cord that contains cerebrospinal fluid (CSF).

Syringomyelia: a chronic progressive disease of the spinal cord caused by an obstruction of normal cerebrospinal fluid (CSF) flow that redirects the fluid into the spinal cord to form a syrinx.

syrinx: a cavity filled with cerebrospinal fluid (CSF) that expands and elongates over time, destroying the center of the spinal cord.

Tethered cord syndrome: a condition of the spinal cord caused by an abnormal attachment or “tether” of the cord to the bones of the spinal canal. The spinal cord gets stretched and can become damaged. The filum terminale is a fibrous thread which connects the very bottom of the spinal cord to the coccyx bone.

Trigeminal neuralgia: a painful disorder of the fifth cranial nerve (trigeminal nerve). Irritation of this nerve can cause intense pain that usually affects one side of the face usually in the forehead, cheek, jaw, or teeth.

Ventriculoperitoneal (VP) shunt: a tube placed in the ventricle of the brain to drain excess cerebrospinal fluid into the abdomen.

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*Diagnosis and testing

The complex symptoms of Chiari I malformation can mimic other diseases – often leading to misdiagnosis and delay in treatment. At times, Chiari I is mistaken for fibromyalgia, chronic fatigue syndrome, migraine, multiple sclerosis, mental disorder, depression, sinus disease, trigeminal neuralgia, or other neurologic disorders. Some people wait for years before a diagnosis is made. Yet, an accurate diagnosis and plan of treatment is important to prevent permanent injury to the nervous system.

The average patient suffers symptoms for 3 to 7 years before a diagnosis is made.

There is no specific test to confirm Chiari. Rather, a diagnosis is made by assessment of the patient’s symptoms, neurological exam, and MRI findings

A complete medical history and physical exam can determine if your symptoms are related to Chiari or another problem. A neurological exam detects problems with cranial nerves such as gag reflex, facial numbness, hoarseness, double vision, tremors, and vision problems. You may be asked to see an eye or ear specialist, or to undergo a sleep evaluation.

If Chiari is suspected, the doctor will order one or more imaging tests to confirm the diagnosis.

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Diagnostic tests may include:

MRI scan is a noninvasive test used to evaluate the brain, spinal cord, and surrounding CSF. MRI can identify the extent of cerebellar herniation. The herniation may reach to the level of the first two vertebrae (C1 or C2) of the cervical spine. Herniation of the tonsils is often measured in millimeters (mm) below the foramen magnum.

The classic definition of Chiari I is herniation greater than 5mm below the foramen magnum. However, the size of herniation seen on MRI does not closely correlate with symptoms. Someone without herniation may have severe symptoms while another with 20-mm herniation may have no symptoms.

Today the diagnosis of Chiari I is based on symptoms and CSF blockage. MRI of the neck and thoracic spine can detect abnormal collections of CSF within the spinal cord. This fluid-filled cavity (syrinx) is surrounded by stretched tissues of the spinal cord.

Cine MRI scan is a special MRI study used to observe cerebrospinal fluid (CSF) flow. With each heartbeat, CSF is forced out of the ventricle of the brain, into the cisterna magna, and down the spinal canal. When the heart relaxes, the CSF flow reverses. The movie-like cine MRI captures the fluid movement. The test can determine if, and by how much, a Chiari is blocking the back-and-forth flow of CSF between the brain and spine.

CT (computed tomography) scan is used to view the bony skull base and spinal column. It can detect thickened bone or previous trauma. CT can also be used to more clearly see bone abnormalities, such as basilar invagination or Ehler-Danlos syndrome.

X-rays of the neck may be taken in flexion and extension to view the bony vertebrae. These images can help your doctor identify any instability at the craniocervical area.

Treatment options vary depending on the severity of symptoms, the extent of tonsillar herniation, and the presence of other conditions such as syringomyelia, hydrocephalus, and disorders of the skull and spine.

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Observation (watch and wait)

If a person has mild or no symptoms, monitoring by regular check-ups and periodic MRI scans may be recommended. Some people experience headache relief with anti-inflammatory or pain-relieving drugs.

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Avoid these activities if you have a Chiari, with or without syringomyelia:

-High-velocity chiropractic manipulation that can make the herniation worse and aggravate the spinal cord.
-Cervical traction.
-Trampolines, roller coasters, scuba diving, and other activities that apply G forces to the neck.
-Contact sports to avoid include football, soccer (heading the ball), diving, running, weight lifting, etc.
-Constipation and straining during bowel movements.
-Lumbar punctures (spinal taps) and epidurals can be dangerous for a person with Chiari. Ask your doctor to review this important literature on these procedures with respect to increasing herniation. Or discuss with your neurosurgeon.
-Childbirth (bearing down and pushing) can also increase cerebellar herniation and formation of a syrinx. Make sure your OB/GYN is aware of your Chiari and tell your neurosurgeon if you become pregnant.

It is important for patients to closely monitor their symptoms. Some patients find it helpful to keep a symptom diary. I personally use a excel spread sheet. By keeping track daily of how you feel and what you do, you may be able to find patterns, identify triggers, and notice subtle changes over time. Bring the symptom diary to each appointment to help you communicate more clearly with your doctor. Knowing what symptoms you experience most, and to what degree, can help shape your diagnosis and treatment. If your symptoms worsen or if any new ones develop, call your neurosurgeon’s office.

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Surgery

In people with severe symptoms or with a syrinx, surgery is advisable. The goals of surgery are to stop or control the progression of symptoms caused by herniation of the cerebellar tonsils, and relieve compression of the brain stem.

In patients with a syrinx, the goal of surgery is to prevent or control progression. Symptoms related to the obstruction of CSF should decrease as flow normalizes.

Posterior fossa decompression This is the main surgery that most Chiarians usually have. It is a surgical procedure that removes bone at the back of the skull and spine to widen the space for the tonsils and brain stem.

The surgeon opens the dura ( brain covering) overlying the tonsils and sews a patch to expand the CSF space.

Spinal fusion I had this done as well. I was fused from my Occipital bones down to my C4 vertebra. It may be performed in addition to decompression surgery in certain patients with spine instability. The neck area of the spine may be unstable due to scoliosis, Ehler-Danlos syndrome, or another bone abnormality. Rods and screws are inserted to structurally reinforce the skull and neck vertebrae.

Shunting is used to reroute CSF. The shunt includes a flexible tube with a 1-way valve that directs the fluid out in the desired direction. For a syrinx in the spinal cord, one end of the tubing is placed in the syrinx. The other end is placed outside the spinal cord. For hydrocephalus, one end of the tubing is place in the ventricle of the brain. The other end is placed in the abdomen (called a ventriculoperitoneal shunt). A shunt remains inside the body after surgery. However, shunts pose risks and often become clogged or dislodge. Repeated surgeries may be necessary.

Transoral decompression is a surgical procedure to treat basilar invagination. The surgery is performed through the mouth, to the back of the throat, to remove an abnormal odontoid bone (C2 vertebra).  This is a surgery I will be having done in the future.

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What happens before surgery?

During the office visit, the neurosurgeon will explain the procedure, its risks and benefits, and answer any questions. Next, you will sign consent forms and complete paperwork to inform the surgeon about your medical history.

You will be scheduled for pre surgical tests several days before surgery.

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Morning of surgery

Shower using antibacterial soap. Dress in freshly washed, loose-fitting clothing.
Wear flat-heeled shoes with closed backs.
If you have instructions to take regular medication the morning of surgery, do so with small sips of water.
Remove make-up, hairpins, contacts, body piercings, nail polish, etc.
Leave all valuables and jewelry at home
Bring a list of medications with dosages and the times of day usually taken.
Bring a list of allergies to medication or foods.
An anesthesiologist will talk with you to explain the effects of anesthesia and its risks.
Ask your doctor about anything else if you are unsure.

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*What happens during surgery?

Step 1: prepare the patient
You will lie on the operating table and be given anesthesia. Once asleep, your head will be placed in a 3-pin skull-fixation device, which attaches to the table and holds your head in position during surgery. A strip of hair is shaved along the planned incision. The scalp is prepped with an antiseptic.

Step 2: make a skin incision
A skin incision is made down the middle through the neck muscles so that the surgeon can see the skull and top of the spine. The skin and muscles are lifted off the bone and folded back.

Step 3: remove bone
The surgeon removes a small section of skull at the back of your head. In some cases the bony arch of the C1 vertebra may be removed. I had this done as well. These steps expose the protective covering of the brain and spinal cord. Bone removal relieves compression of the tonsils.

Step 4: open the dura
Next, the surgeon opens the dura to view the tonsils and cisterna magna. Some surgeons perform a Doppler ultrasound study during surgery to determine if opening the dura is necessary. Sometimes bone removal alone may restore normal CSF flow.

Step 5: reduce the tonsils
Depending on the size of herniation, the stretched and damaged tonsils may be shrunk with electrocautery. This shrinkage ensures that there is no blockage of CSF flow out of the 4th ventricle.

Step 6: attach dura patch
A patch of synthetic material or the patient’s pericranium (a piece of deep scalp tissue just outside the skull) is sutured into place. This patch enlarges the dura opening and the space around the tonsils. The suture line is covered with a dural sealant to prevent CSF leak

Step 7: close the incision
The neck muscles and skin are sutured together. A dressing is placed over the incision.

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What happens after surgery?

You will wake up in the recovery area. Your throat may feel sore from the tube inserted to assist your breathing during surgery. Blood pressure, heart rate, and respiration will be monitored. If you feel nausea or headache after surgery, medication can be given. When your condition stabilizes, you will be discharged in the care of your family or a caregiver, usually 2-5 days. I was in the hospital 5 days. Every person is different. Some people have more complications than others. My surgery was only supposed to be 8 hours, and it turned into 14 hours.

  • After surgery, pain is managed with narcotic medication. Because narcotic pain pills are addictive, they are used for a limited period
  • Regular use of narcotics can cause constipation, so drink lots of water and eat high fiber foods. Stool softeners and laxatives may be bought over-the-counter.
  • Ice packs for 20 minutes can help relieve neck and shoulder pain and muscle spasms. Muscle relaxants may be prescribed. I couldn’t use ice packs with my fusion it was too painful.

Restrictions

Avoid activities that increase pressure in the head:

Bending over, with head low
Straining / pushing during a bowel movement
Prolonged coughing

Do not drive after surgery until discussed with your surgeon and avoid sitting for long periods.

Do not lift anything heavier than 5 pounds (e.g., gallon of milk), including children.

Housework and yard-work are not permitted until the first follow-up office visit. Avoid gardening, mowing, vacuuming and loading / unloading the dishwasher, washer, or dryer.

Do not drink alcoholic beverages while on pain medicine.

Your doctor will advise you of any other restrictions.

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Bathing/Incision Care

Shower and wash hair with mild shampoo after surgery unless otherwise directed by your surgeon.  Avoid water directly on the incision or rubbing the incision dry.  No tub baths, hot tubs, or swimming pools. I wasn’t able to wash my hair after surgery. My pain wasn’t controlled well, and I ended up having to shave my head.

Sutures or staples, if used, will need to be removed. Ask your surgeon or call the office to find out when.

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When to Call Your Doctor

Fluid may accumulate under the skin around the incision. A visible swelling that is soft and squishy may be a sign of cerebrospinal fluid leakage. A clear sticky fluid may leak from the incision. Call the surgeon should any drainage occur.

If you experience any of the following:

A temperature that exceeds 101º F
An incision that shows signs of infection, such as redness, swelling, pain, or drainage.
Decreased alertness, increased drowsiness, weakness of arms or legs, increased headaches, vomiting, or severe neck pain that prevents lowering your chin toward the chest.

If something doesn’t feel right, call your surgeon. If you pain is out of control, go to the ER.

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Recovery

Before you leave the hospital, appointments with the neurosurgeon will be scheduled 10 to 14 days after surgery to remove your sutures and check your recovery. Recovery from the actual surgery varies from 4 to 6 weeks, depending on your general health. After surgery, you can expect headache and neck pain from the incision that may last several weeks, to a few months to years. Every person is different.

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Organizations, Message Boards, Resources

Chiari-Syrinx Support
www.chiari-syrinxsupport.com/

The University of Chicago Medicine
http://www.uchospitals.edu/specialties/neurosciences/congenital-anomalies/chiari.html

Columbia University Medical Center – Columbia Neurosurgeons
www.columbianeurosurgery.org
Treating both pediatric and adult chiari malformation.

Conquer Chiari Pediatric
http://www.conquerchiari.org/pediatric/pediatric-index.html

Columbia University Medical Center – Neurosurgeons of New Jersey
www.neurosurgeonsofnewjersey.com/
Treating both pediatric and adult chiari malformation.

American Syringomyelia Alliance Project
www.asap.org

Chiari & Syringomyelia Foundation
www.csfinfo.org

Mayfield Chiari Center
www.mayfieldchiaricenter.com

The Chiari Institute
www.chiariinstitute.com/chiari_malformation.html

Chiari Australia
www.chiariaustralia.com

Associazione Italiana Siringomielia e Arnold Chiari – AISMAC
www.AISMAC.org

Canadian Syringomyelia Network
www.csn.ca

Chiari Connection International
www.chiariconnectioninternational.com

Chiari Support UK
www.chiari.co.uk/

British Syringomyelia & Chiari Society
www.britishsyringomyelia-chiarisociety.org

Dizziness-and-Balance.com
www.dizziness-and-balance.com/disorders/central/cerebellar/chiari.html

Brain Foundation
www.brainfoundation.org.au/a-z-of-disorders

United Kingdom Arnold Chiari and Syringomyelia Association
www.domus.plus.com

World Arnold Chiari Malformation Association
www.pressenter.com/~wacma

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Depression

www.depression.answers.com
Chiari Blogs

David’s Chiari
http://davidschiari.blogspot.com/

AZ Syringo & Chiari Support Group
www.azsyringochiari.wordpress.com

Chiari Carnival
http://chiaricarnival.blogspot.com

Carrie’s Chiari Connection
www.freewebs.com/carrieschiariconnection/index.htm

Chris’s Chiari Blog (UK)
www.chiariblog.co.uk/

Carolyn’s Chiari
www.carolynschiari.blogspot.com/2008/06/chiari-times-articles-by-dr-oro.html

Life with Chiari
http://lifewithchiari.com/

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Flight Assistance

Many organizations provide free or reduced travel assistance to those in need.

 

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Resources

American Syringomyelia Alliance Project

Conquer Chiari

Chiari & Syringomyelia Foundation

Chiari Connection International

World Arnold Chiari Malformation Association

Ehler-Danlos National Foundation

Spina Bifida Association

Chiari Gear
https://www.chiarigear.com/

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*Mayfield Clinic, University of Cincinnati Department of Neurosurgery

EDS

What is EDS
What Types of EDS are there?
Classical Type of EDS
Vascular Type of EDS
Kyphoscoliosis Type of EDS
Arthrochalasia Type of EDS
Dermatosparaxis Type of EDS
Tenascin-X Deficient Type of EDS
What are the symptoms of EDS?
How is EDS diagnosed?
How are Ehlers-Danlos syndromes treated?

What is EDS

Individuals with Ehlers-Danlos syndromes (EDS) have a genetic defect in their connective tissue, the tissue that provides support to many body parts such as the skin, muscles and ligaments. The fragile skin and unstable joints found in patients with EDS are the result of faulty or reduced amounts of collagen. Collagen is a protein, which acts as a “glue” in the body, adding strength and elasticity to connective tissue.

EDS is a heterogeneous group of heritable connective tissue disorders, characterized by articular (joint) hypermobility, skin extensibility and tissue fragility. There are six distinct types of EDS currently identified. All share joint laxity, soft skin, easy bruising, and some systemic manifestations. Each type is thought to involve a unique defect in connective tissue, although not all of the genes responsible for causing EDS have been found. These six types are defined according to the signs and symptoms that are manifested, in a set of major and minor diagnostic criteria for each type. Each type of EDS is a distinct disorder that “runs true” in a family. This means that an individual with Vascular Type EDS will not normally have a child with Classical Type EDS. There a number of mutations identified as Ehlers-Danlos syndromes since the 1997 diagnostic criteria; these lie outside the classifications and can be located through the OMIM/Online Mendelian Inheritance in Man® database from Johns Hopkins University.

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What Types of EDS are there?

Classical
Vascular
Kyphoscoliosis
Arthrochalasia
Dermatosparaxis
Tenascin-X Deficient

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Classical Type of EDS

Characterized by highly elastic, soft, and doughy skin; unusual scarring; and loose joints.  This type of Ehlers-Danlos Syndrome combines the types formerly called I and II.  Ehlers-Danlos Syndrome, Classical Type is a sub type of Ehlers-Danlos Syndrome.

People with the Classical Type have smooth, velvety skin that is stretchy, fragile, and easily bruised. Wounds often split open with little bleeding, heal slowly, and leave characteristic thin, wide scars. People with this condition also have loose joints with an unusually large range of movement (hypermobility). As a result, joints are prone to dislocation, sprains, and the early-onset arthritis. Non-cancerous fibrous growths on pressure points (such as elbows) and fatty growths on the forearms and shins are also common.  Other manifestations include weak muscle tone in infants due to hypermobility, which can make them seem “floppy” and delay the development of motor skills such as sitting, standing, and walking. As many as half of the people with Classical Type Ehlers-Danlos Syndrome have a condition called mitral valve prolapse, which affects blood flow between the chambers of the heart. The Classical Type is one of the most common forms of Ehlers-Danlos Syndrome.

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Vascular Type of EDS

Characterized by possible arterial or organ rupture as a result of spontaneous rupture of vessels or organs due to the result of even minor trauma.  The Vascular Type of EDS is the most serious form. If a patient presents with signs of chest, neck, abdominal pain (etc.) it should be considered a TRAUMA SITUATION. Patient complaints should be immediately investigated using an MRA, MRI or CT-Scan rather than x-rays since expedient diagnosis and treatment is so critical to the survival of a Vascular EDS patient.

Please keep in mind that the Vascular Type of EDS is extremely hard to diagnose.  Since so many patients are misdiagnosed with another form of EDS extreme caution should be taken with all forms of this disorder.  The Vascular Type is a sub type of Ehlers-Danlos Syndrome.

People with the disorder have thin, fragile skin that bruises easily. Veins are visible beneath the skin, particularly on the chest and abdomen, and hands and feet may have an aged appearance. Unlike people with other forms of Ehlers-Danlos Syndrome, people with the Vascular Type have skin that is soft but not overly stretchy. Facial features are often distinctive, including protruding eyes, a thin nose and lips, sunken cheeks, and a small chin.

Other signs of the disorder include an unusually large range of movement (hyper-mobility) of hand and foot joints, tearing of tendons and muscles, painfully swollen veins in the legs, lung collapse, and slow wound healing following injury or surgery. Infants with the condition may be born with hip dislocations and a foot disorder called clubfoot, which causes the foot to turn inward and downward.

Unpredictable ruptures of arteries and organs are the most serious complications of the Vascular Type of Ehlers-Danlos Syndrome. A torn artery can cause internal bleeding, stroke, or shock, and is the most common cause of death in patients with this disorder. Rupture of the intestine is seen in 25 to 30 percent of affected individuals and tearing of the uterus (womb) during pregnancy affects 2 to 3 percent of women.  Although serious problems are rare in childhood, more than 80 percent of patients experience severe complications by the age of 40. The vascular type is a rare form of Ehlers-Danlos Syndrome

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Kyphoscoliosis Type of EDS

Characterized by generalized joint laxity and severe muscle hypotonia (weak muscle tone) at birth.  The muscular hypotonia can be very pronounced and leads to delayed gross motor development.  Individuals with the Kyphoscoliosis Type of EDS present with a progressive form of scoliosis at birth. The phenotype is most often severe, frequently resulting in the loss of ambulation in the second or third decade. Scleral fragility may lead to rupture of the ocular globe after minor trauma.  Tissue fragility including atrophic scars and easy bruising. Spontaneous arterial rupture can occur. The Kyphoscoliosis Type of EDS can be diagnosed through a urine test.

Other Findings May Include
Marfanoid Habitus (Marfan like features)
Micro Cornea (abnormally small cornea)
Radiologically Considerable Osteopenia (diminished amount of bone tissue)

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Arthrochalasia Type of EDS

Characterized by congenital hip dislocation which is present in all biochemically proven individuals with this type of EDS. Severe generalized joint hypermobility with recurrent subluxations are seen in individuals with this type of EDS. Can be diagnosed through skin biopsy

Other manifestations of this type may include
Skin hyper extensibility with easy bruising
Tissue fragility including atrophic scars
Muscle Hypotonia
Kyphoscoliosis
Radiologically Mild Osteopenia.

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Dermatosparaxis Type of EDS

Characterized by severe skin fragility and substantial bruising. Wound healing is not impaired and the scars are not atrophic. The skin texture is soft and doughy. Sagging, redundant skin is evident. The redundancy of facial skin results in an appearance resembling cutis laxa. Large hernias(umbilical, inguinal) may also be seen. The number of patients reported with this type of EDS is small. Can be diagnosed through skin biopsy.

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Tenascin-X Deficient Type of EDS

Characterized by joint hypermobility, hyper elastic skin, and fragile tissue. Lacking multiple shrinking scars in the skin that is often seen in the Classic Type of Ehlers-Danlos Syndrome.

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What are the symptoms of EDS?
Clinical manifestations of EDS are most often joint and skin related and may include:

Joints
Joint hypermobility; loose/unstable joints which are prone to frequent dislocations and/or subluxations; joint pain; hyper extensible joints (they move beyond the joint’s normal range); early onset of osteoarthritis.

Skin
Soft velvety-like skin; variable skin hyper-extensibility; fragile skin that tears or bruises easily (bruising may be severe); severe scarring; slow and poor wound healing; development of molluscoid pseudo tumors (fleshy lesions associated with scars over pressure areas).

Miscellaneous/Less Common
Chronic, early onset, debilitating musculoskeletal pain
(usually associated with the Hypermobility Type)
Arterial/intestinal/uterine fragility or rupture
(usually associated with the Vascular Type)
Scoliosis at birth and scleral fragility
(associated with the Kyphoscoliosis Type)
Poor muscle tone
(associated with the Arthrochalasia Type)
Mitral valve prolapse; and gum disease.

Each type of EDS is defined as a distinct problem in making or using one of the types of collagen. Collagen is what the body uses to provide strength and elasticity to tissue; normal collagen is a strong protein that allows tissue to be stretched but not beyond its limit, and then safely returns that tissue to normal. Collagen is found throughout the body, and EDS are a structural problem.

An analogy: If one builds a house with bad materials, with cheap nails or only half the wood required, problems will arise. Some problems are more likely to show up than others, but because the bad or missing materials are everywhere and not necessarily visible, one can be surprised where some problems occur.

It is much the same thing with EDS and collagen. The collagen with which a person with EDS is built is not structured the way it should be, or only part of it is produced. With a badly built or processed collagen, the tissue that relies on it can be pulled beyond normal limits and thus be damaged. Collagen is the most abundant protein in the body and types of collagen can be found almost anywhere: in skin, muscles, tendons and ligaments, blood vessels, organs, gums, eyes, and so on.

The problems resulting from one’s body being built out of a protein that behaves unreliably can be widespread, in a wide range of severities, and show up in places that seem unrelated until the underlying connection to EDS is recognized.

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How is EDS diagnosed?

Each type has a set of major diagnostic criteria and of minor diagnostic criteria. Traditional diagnosis of EDS consists of family history and clinical evaluation to assess the diagnostic criteria. Genetic testing is available for most types of EDS, although not for the most common type, Hypermobility. The tests vary in accuracy; in most instances genetic testing should be used conservatively to confirm an EDS type diagnosis rather than to rule one out.

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How are Ehlers-Danlos syndromes treated?

Ehlers-Danlos syndromes are treated according to the particular manifestations present in a given individual. Skin protection (from injury of trauma and sun, etc.) is critical. Wounds must be tended with great care and infections treated and prevented. Suturing can be difficult as the skin can be extremely fragile. Joint injury must be avoided. Occasionally, bracing may be necessary to maintain joint stability. Exercises that strengthen the muscles that support the joints can help to minimize joint injury. Contact sports and activities involving joint impact should be avoided.

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Postural Tachycardia Syndrome


What is Postural Tachycardia Syndrome (POTS)?
Who gets POTS?
What causes POTS?
How is POTS diagnosed?
What is the treatment for POTS?

What is Postural Tachycardia Syndrome (POTS)?
On standing, the patient may have orthostatic intolerance (OI). Because upright heart rate is usually greatly increased, the more common term used now is Postural Tachycardia Syndrome (POTS). The increase in heart rate may be a sign that the cardiovascular system is working hard to maintain blood pressure and blood flow to the brain.

Symptoms & Signs (for at least 6 months):

Lightheadedness, palpitations and tremulousness during standing

Other upright posture symptoms may include:

Visual changes
Discomfort in the head and neck
Throbbing of the head
Poor concentration
Tiredness
Weakness
Occasionally fainting
Nausea
Chest discomfort
Shortness of breath

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Who gets POTS?

POTS is most frequently seen in young women, often less than 35 years of age. Orthostatic intolerance affects an estimated 500,000 Americans and causes a wide range of disabilities.

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What causes POTS?

The cause of POTS is unknown. Sometimes, a recent viral infection happens soon before symptoms occur. Many patients remain undiagnosed because the severity changes and the disorder can be called many different names. Another problem in the diagnosis of OI is its overlap with other conditions such as Chronic Fatigue Syndrome (CFS), Neurally Mediated Syncope (NMS), or physical de-conditioning.
Patients may also experience a decrease in blood plasma volume due to blood pooling in the abdomen and legs.

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How is POTS diagnosed?

In addition to asking detailed questions about the patient’s health, the physician will conduct a physical examination, which will include checking blood pressure and heart rate while the patient is lying, sitting, and immediately after standing, as well as after the patient has been upright for two, five, and ten minutes. Sometimes a test called a head upright tilt table will be performed to help confirm the diagnosis.

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What is the treatment for POTS?

Treatments for POTS aim to relieve low blood pressure or regulate circulatory problems. These include: Orthostatic “exercise”, Medication therapy, Drinking water may help to temporarily raise blood pressure, Salt and /or fludrocortisones

No single treatment has been found to be effective for every patient. Some treatments are more successful than others and are often used together for best results.

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What is Syringomyelia?


What is Syringomyelia?
What causes syringomyelia?
What are the different forms of syringomyelia?
How is syringomyelia diagnosed?
How is syringomyelia treated?

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What is Syringomyelia?
Syringomyelia (sear-IN-go-my-EEL-ya) is a disorder in which a cyst forms within the spinal cord.  This cyst, called a syrinx, expands and elongates over time, destroying a portion of the spinal cord from its center and expanding outward. As a syrinx widens it compresses and injures nerve fibers that carry information from the brain to the extremities. Damage to the spinal cord often leads to progressive weakness in the arms and legs, stiffness in the back, shoulders, arms, or legs, and chronic, severe pain. Other symptoms may include headaches, a loss of the ability to feel extremes of hot or cold (especially in the hands), and loss of bladder and other functions. Each individual experiences a different combination of symptoms depending on where in the spinal cord the syrinx forms and how far it extends. Signs of the disorder tend to develop slowly, although sudden onset may occur with coughing or straining. Many disorders share the early symptoms of syringomyelia, which also can occur in association with other conditions. Estimates of the number of Americans with syringomyelia vary widely, but a conservative estimate is that about 40,000 people in the United States are affected, with symptoms usually beginning in young adulthood. Some cases of syringomyelia occur in more than one family member, although this is rare.

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What causes syringomyelia?
A watery, protective substance known as cerebrospinal fluid (CSF) normally flows around the spinal cord and brain, transporting nutrients and waste products. It also acts as a cushion to protect the brain and spinal cord. In early development, CSF also fills a small canal that runs through the center of the spinal cord—the central canal—which then collapses normally over time. A number of medical conditions can cause an obstruction in the normal flow of CSF, redirecting excess fluid into the spinal cord and central canal. This redirected CSF accumulates within the tissue of the spinal cord and forms a fluid-filled syrinx. Pressure differences along the spine cause the fluid to move within the syrinx and outside the spinal cord. Physicians believe that this continual movement of fluid in and around the spinal cord results in cyst growth and further damage to the spinal cord tissue.

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What are the different forms of syringomyelia?
Generally, there are two forms of syringomyelia. In most cases, the disorder is related to an abnormality of the brain called a Chiari I malformation, named after one of the physicians who first characterized it. This anatomic abnormality causes the lower part of the cerebellum to protrude from its normal location in the back of the head into the cervical or neck portion of the spinal canal. A syrinx may then develop in the cervical region of the spinal cord. Because of the relationship that was once thought to exist between the brain and spinal cord in this type of syringomyelia, physicians sometimes refer to it as communicating syringomyelia.

Symptoms usually begin between the ages of 25 and 40 and may worsen with straining or any activity that causes CSF pressure to fluctuate suddenly. Some individuals, however, may have long periods of functional stability. Some people with this form of the disorder also have hydrocephalus, in which CSF accumulates in the brain, or a condition called arachnoiditis, in which a covering of the spinal cord—the arachnoid membrane—is inflamed.

The second major form of syringomyelia occurs as a complication of trauma, meningitis, hemorrhage, a tumor, or arachnoiditis. Here, the syrinx or cyst develops in a segment of the spinal cord damaged by one of these conditions. The syrinx then starts to expand. This is sometimes referred to as non communicating syringomyelia. Symptoms may appear months or even years after the initial injury, starting with pain, weakness, and sensory impairment originating at the site of trauma.

The primary symptom of post-traumatic syringomyelia is pain, which may spread upward from the site of injury. Symptoms, such as pain, numbness, weakness, and disruption in temperature sensation, may occur on one or both sides of the body. Syringomyelia can also adversely affect sweating, sexual function, and, later, bladder and bowel control. Syringomyelia may also involve a part of the brain called the brain stem. The brain stem controls many of our vital functions, such as respiration and heartbeat. When syrinxes affect the brain stem, the condition is called syringobulbia.

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How is syringomyelia diagnosed?
Diagnostic imaging has significantly increased the number of syringomyelia cases detected in the beginning stages of the disorder. Physicians primarily use magnetic resonance imaging (MRI) to diagnose syringomyelia. Computer-generated radio waves and a powerful magnetic field produce images of body structures, such as the brain and spinal cord, in vivid detail. This test will show the syrinx in the spine as well as other conditions, such as the presence of a tumor. Images taken in rapid succession can be used for “dynamic imaging” (in “cine mode”) to observe the fluid flowing around the spinal cord and within the syrinx. Computed tomography (CT), which uses x-rays and a computerized scanner to produce cross-sectional images of the body or an organ structure, may reveal the presence of tumors and other abnormalities such as hydrocephalus. Another test, called a myelogram, takes x-ray-like pictures and requires a contrast medium or dye to do so. Since the introduction of MRI this test is rarely necessary to diagnose syringomyelia.

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How is syringomyelia treated?
Surgery is usually recommended for individuals with syringomyelia. The type of surgery and its location depend on the type of syringomyelia. In Chiari malformation, the main goal of surgery is to provide more space at the base of the skull and upper neck, without entering the brain or spinal cord.

This results in the primary cyst becoming much smaller. Surgery results in stabilization or modest improvement in symptoms for most individuals with Chiari malformation. Delay in treatment may result in irreversible spinal cord injury. Recurrence of syringomyelia after surgery may make additional operations necessary; these may not be completely successful over the long term. In some individuals it may be necessary to drain the syrinx, which can be accomplished using a catheter, drainage tubes, and valves. This system is known as a shunt. Shunts are used in both the communicating and non communicating forms of the disorder.

First, the surgeon must locate the syrinx. Then, the shunt is placed into it with the other end draining the syrinx fluid into a cavity, usually the abdomen. This type of shunt is called a syringoperitoneal shunt. A shunt of CSF from the brain to the abdomen is called a ventriculoperitoneal shunt and is used in cases involving hydrocephalus. By draining syrinx fluid or CSF, a shunt can halt the progression of symptoms and relieve pain, headache, and tightness. Without correction, symptoms generally continue.

The decision to use a shunt requires extensive discussion between the surgeon and the individual, as this procedure carries with it the risk of injury to the spinal cord, infection, blockage, or hemorrhage and may not necessarily work for all people.

If a tumor is causing syringomyelia, removing the tumor is the treatment of choice and almost always eliminates the syrinx. In the case of trauma-related syringomyelia, the preferred surgical approach is to operate at the level of the initial injury to expand the space around the spinal cord and decrease fluid volume. This operation is performed outside the spinal cord.

An alternate operation is to place a shunt in the syrinx, which requires a hole to be made in the spinal cord. Shunts may injure the spinal cord and may require replacement if they clog over time. Many surgeons now consider shunt placement only as a last resort. Instead, surgeons usually choose to expand the space around the spinal cord. This is done by removing scar tissue that “tethers” the cord in place and prevents the free flow of CSF around it, and adding a patch to expand the dura, the membrane that surrounds the spinal cord and contains the CSF (a procedure called expansive duraplasty). In some cases, the vertebrae may need to be realigned to correct spinal deformity that is narrowing the spinal column.

Many spinal cord-injured individuals have a cyst at the site of the original injury. These cysts do not always require treatment, although treatment may be warranted if a cyst grows larger or begins to cause symptoms.

Drugs have no curative value as a treatment for syringomyelia but may be used to ease pain. Radiation is used rarely and is of little benefit except in the presence of a tumor. In these cases, it can halt the extension of a cavity and may help to alleviate pain.

In the absence of symptoms, syringomyelia is usually not treated. In addition, a physician may recommend not treating the condition in individuals of advanced age or in cases where there is no progression of symptoms. Whether treated or not, many individuals will be told to avoid activities that involve straining.

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