Some Chiarians also have

Some Chiarians Also Have...

Among the other problems seen in some Chiarians are the following: Syringomyelia, Hydrocephalus, Spina Bifida, Ehlers-Danlos Syndrome, Mitochondrial Disease, tethered spinal cord syndrome, Scoliosis, autism, Klippel-Feil Syndrome, fibromyalgia syndrome, autonomic dysreflexia, Horner's Syndrome, syncope and Noonan Syndrome.

SYRINGOMYELIA (sear-IN-go-my-EEL-ya)

In 20-30% of the cases of those diagnosed with Chiari I malformation, the sufferer also has syringomyelia. This happens when a fluid-filled cyst forms within the spinal cord. Syringomyelia may also occur as a complication of spine trauma, meningitis, hemorrhage, a tumor or arachnoiditis.

The syrinx usually begins in the neck area. It can expand over time and, if not treated, can cause paralysis.

An MRI of the spine confirms syringomyelia, as well as its location and the extent of the damage.

If the patient also has Chiari I, a posterior fossa decompression surgery is performed. In addition to relieving pressure on the cerebellum (which controls balance and coordination) and restoring the normal flow of cerebral spinal fluid, the syrinx will reduce in size or resolve on its own.

HYDROCEPHALUS (hī′drō-sef′ă-lŭs)

Cerebral spinal fluid (CSF) surrounds and protects the brain and spinal cord. Hydrocephalus occurs when there is an abnormal accumulation of CSF and this puts harmful pressure on the brain.

Someone can be born with hydrocephalus (believed to happen in about two out of 1,000 births) or it can be acquired from such problems as inter ventricular hemorrhage, meningitis, head trauma, tumors or cysts.

If untreated, hydrocephalus is usually fatal.

There is no known way to prevent or cure hydrocephalus. The most common treatment is where a shunt is inserted by a neurosurgeon to drain the excess CSF. A shunt is a flexible tube that diverts the excess CSF to another part of the body, usually the abdominal cavity, where it can be absorbed.

SPINA BIFIDA (spy-na bif-i-duh)

Thirty percent of the 1,500 babies born with spina bifida each year also have Chiari. This disabling birth defect is the most common in the United States. Spina bifida happens when the fetal spinal column does not completely close during the first month of pregnancy.

Sufferers usually have nerve damage causing some paralysis of the legs. This is why many need the assistance of braces, crutches or wheelchairs.

There are three types of spina bifida (occulta, meningocele and myelomeningocele (my-e-lo-MENING-o-seal) and Chiari II malformation is usually seen in infants with myelomeningocele.

Chiari II also involves more of the brain than Chiari I. The symptoms are the same, but are usually worse and occur earlier.

Myelomeningocele is also the most severe form of spina bifida. It occurs when parts of the spinal cord and nerves come through the open part of the spine. This causes nerve damage and other disabilities. In 70-90% of the cases, children will also suffer from hydrocephalus (see our section above for more information on this neurological problem).

Within two to three days of birth, a child that has myelomeningocele usually undergoes surgery to prevent infections and help save the spinal cord from more damage.

There is no cure.

EHLERS-DANLOS SYNDROME (EDS) (ey-lerz dan-los)

This genetic disorder is named after Dr. Edvard Ehlers (from Denmark) and Dr. Henri-Alexandre Danlos (from France), who both identified it in the early 1900s.

EDS sufferers have a defect that weakens connective tissues, which are proteins that support skin, bones, blood vessels and other organs.

There are six major types of EDS and they range from mild to life-threatening. One of the most common types is Classical, where sufferers have stretchy skin, widened atrophic scars and joint hypermobility. There is no cure. Treatment involves managing the symptoms.

One in 5,000 people have EDS, which affects both males and females of all racial and ethnic backgrounds.


This is a chronic, genetic disorder that occurs when the mitochondria of the cell fails to produce enough energy for cell or organ function. There are many forms of the disease and the severity of the symptoms differs from person to person.

Here are some of the symptoms: poor growth, loss of muscle coordination, muscle weakness, visual problems, hearing problems, learning disabilities, heart disease, liver disease, kidney disease, gastrointestinal disorders and neurological problems.

About one in 4,000 children in the United States will develop mitochondrial disease by the age of 10.

Treatment options are limited and plans are based on symptoms as they appear. Mitochondrial Disease can also cause death.

TETHERED SPINAL CORD SYNDROME (pronounced Teathered, like Heather-ed with a T instead of the first H)

This neurological disorder is caused by tissue attachments (either congenital (born with it) or by injury) that limit the movement of the spinal cord within the spinal column. These attachments cause an abnormal stretching of the spinal cord and the syndrome is progressive.

Tethered spinal cord syndrome can affect both children and adults.

MRI imaging is often used to evaluate sufferers and can diagnose the location of the tethering, lower than normal positron of the conus medullaris, or presence of a tumor or fatty mass (lipoma).

In children, early surgery is recommended to prevent further neurological deterioration. Regular follow-up is important: retethering may occur in some individuals during periods of rapid growth and may be seen between five to nine years of age. If surgery is not advisable, spinal cord nerve roots may be cut to relieve pain. In adults, surgery to free (detether) the spinal cord can reduce the size and further development of cysts in the cord and may restore some function or alleviate other symptoms.


This is a curvature of the spine that results in rotation of the spine and rib cage. As a result, there is asymmetry of the shoulders, the trunk and the hips.

Screening for scoliosis is also done in schools in most of the United States. The following are among the things that usually alert the person who is giving the brief exam: one shoulder is higher than the other, one shoulder blade may protrude more than the other, and there may be a skin crease on the flank on one side of the individual and not on the other. Furthermore, one hip may appear elevated in comparison to the other side.

One of the most common hallmarks of scoliosis is that the ribs appear prominent from the back when bending forward.

In adolescence, these asymmetries are most commonly noticed during rapid growth spurts by parents or friends. In adults, who previously did not suspect scoliosis, the realization that they are losing height may be the first clue that they have a progressive curvature of the spine.

If scoliosis is suspected, it is important to have a qualified orthopedic spinal surgeon evaluate you. The most certain way to determine or confirm scoliosis is by taking a full-length X-ray of the spine.

In the United States, scoliosis affects 2% of women and 0.5% of men in the general population. There are many causes of scoliosis, including the following: congenital spine deformities, genetic conditions, neuromuscular problems, limb length inequality, cerebral palsy, spina bifida, muscular dystrophy, spinal muscular atrophy and tumors. Over 80% of scoliosis cases, however, are idiopathic, which means that there is no known cause. Most idiopathic scoliosis cases are found in otherwise healthy people.

The following are the three basic types of treatments for scoliosis: (1) observation, (2) orthopedic bracing, or (3) surgery.


Autism and autism spectrum disorder (ASD) are both general terms for a group of complex disorders of brain development. These disorders are characterized, in varying degrees, by difficulties in social interaction, verbal and nonverbal communication and repetitive behaviors.

Though autism cannot be definitively diagnosed until around 18 to 24 months, research shows that children as young as eight to 12 months may exhibit early signs. Parents should look for symptoms such as no back-and-forth sharing of sounds, smiles or other facial expressions by nine months; no babbling or back-and-forth gestures (e.g. pointing) by 12 months; or any loss of babbling, speech or social skills at any age.

Autism is the fastest-growing, serious developmental disability in the U.S. and boys are four times more likely than girls to have this problem.

Research suggests that the development of autism is rooted in very early brain development. However, in most cases, no one cause can be identified.

If you suspect that something is wrong with your child, Autism Speaks (the world’s leading autism science and advocacy organization) suggests talking to your doctor or contact your state’s Early Intervention Services department about getting your child screened for autism.

Adults can also be diagnosed with autism. In fact, diagnosis may bring relief in terms of an explanation for their lifelong struggles.

There is no medical detection or cure for autism.


Klippel-Feil Syndrome (KFS) is a rare disorder where someone is born with the fusion of any two of the seven cervical (neck) vertebrae. This occurs during the early weeks of fetal development. The most common signs of the disorder are short neck, low hairline at the back of the head and restricted mobility of the upper spine.

It is named after Drs. Maurice Klippel and Andre Feil, both of France, who initially reported on this problem in 1912. it is estimated to occur 1 in 40,000 to 42,000 newborns worldwide. In addition, females slightly outnumber males in having this disorder.

According to the National Institute of Neurological Disorders and Stroke (PLEASE CLICK HERE), treatment for KFS is symptomatic and may include surgery to relieve cervical or craniocervical instability and constriction of the spinal cord, and to correct scoliosis. Physical therapy may also be useful.

The prognosis for most individuals with KFS is good if the disorder is treated early and appropriately. Activities that can injure the neck should be avoided.

In some individuals, KFS can be associated with a variety of additional symptoms and physical abnormalities. These may include abnormal curvature of the spine (scoliosis) and/or vertebral instability, spina bifida, Chiari and raised scapula (Sprengel's Deformity), among others.


Fibromyalgia Syndrome (FMS) produces chronic body-wide pain, which migrates and can be felt from head to toe. Other symptoms include persistent fatigue, headaches, cognitive or memory impairment, morning stiffness and non-restorative sleep. The pain can migrate from day to day. Recent scientific research studies have shown central nervous system involvement in FMS.

The National Fibromyalgia Research Association (NFRA) also adds that more than six million Americans, 90% of them women in the prime of their lives, suffer from FMS and sometimes struggle for years before being correctly diagnosed.

While symptoms usually appear between 20-55 years of age, children are also diagnosed with FMS.

There is no known cause or cure.

To see an interesting chart called "Comparable Symptoms of Fibromyalgia and Chronic Fatigue Syndrome, Chiari Malformation and Cervical Spinal Cord Compression," PLEASE CLICK HERE.


Autonomic dysreflexia, also known as hyperreflexia, is a state that is unique to patients after spinal cord injury at a T5 level and above. According to the Louis Calder Memorial Library of the University of Miami/Jackson Memorial Medical Center, patients with spinal cord injuries at Thoracic 5 (T5) level and above are very susceptible. Patients with spinal cord injuries at Thoracic 6 - Thoracic 10 (T6-T10) may be susceptible.

It can develop suddenly, and is a possible emergency situation. If not treated promptly and correctly, it may lead to seizures, stroke and even death.

Autonomic dysreflexia means an over-activity of the Autonomic Nervous System. It can occur when an irritating stimulus is introduced to the body below the level of spinal cord injury, such as an overfull bladder. The stimulus sends nerve impulses to the spinal cord, where they travel upward until they are blocked by the lesion at the level of injury. Since the impulses cannot reach the brain, a reflex is activated that increases activity of the sympathetic portion of autonomic nervous system. This results in spasms and a narrowing of the blood vessels, which causes a rise in the blood pressure. Nerve receptors in the heart and blood vessels detect this rise in blood pressure and send a message to the brain. The brain sends a message to the heart, causing the heartbeat to slow down and the blood vessels above the level of injury to dilate.

However, the brain cannot send messages below the level of injury, due to the spinal cord lesion, and therefore the blood pressure cannot be regulated.

Among the symptoms are a pounding headache (caused by the elevation in blood pressure), sweating above the level of injury and blotching of the skin.

Treatment of autonomic dysreflexia must be initiated quickly to prevent complications.


Horner's Syndrome is named after the Swiss ophthalmologist who first described it in 1869.

It is primarily due to damage of sympathetic nerves supplying the eye and is characterized by enophthalmos (sinking of the eyeball into the orbit), partial ptosis (drooping upper eyelid), swelling of the lower eyelid, miosis (constricted pupil), loss of sweating on the affected side of the face and heterochromia (difference in eye color).

Your vision is a very complex part of the body and one of the reasons are the four neuronal pathways from the brain to the eye.

The first neuronal pathway begins in the cerebrum of the brain and runs down the spinal cord into the chest.

The causes of Horner's syndrome are divided into three groups according to the neurons that have been damaged. Among the conditions that are connected to the damage of the first neuronal pathway of sympathetic nervous system include Chiari.

Horner's Syndrome is usually caused by direct injury along the sympathetic nerve pathway. Another of its causes could be the result of viral infections.

Treatment varies per patient and the severity of the problem. One avenue is to undergo an MRI of the brain, brainstem, and cervical cord to screen for structural lesions such as Chiari I with syringomyelia.


Syncope is a temporary loss of consciousness due to the sudden decline of blood flow to the brain. According to the National Institute of Neurological Disorders and Stroke (NINDS), syncope "is commonly called fainting or 'passing out.' If an individual is about to faint, he or she will feel dizzy, lightheaded, or nauseous and their field of vision may 'white out' or 'black out.' The skin may be cold and clammy. The person drops to the floor as he or she loses consciousness. After fainting, an individual may be unconscious for a minute or two, but will revive and slowly return to normal. Syncope can occur in otherwise healthy people and affects all age groups, but occurs more often in the elderly."

The following are different types of syncope: vasovagal syncope, carotid sinus syncope and situational syncope.

If not treated properly, syncope can be life-threatening. According to NINDS, the immediate treatment would involve "checking first to see if their airway is open and they are breathing. The person should remain lying down for at least 10-15 minutes, preferably in a cool and quiet space. If this isn’t possible, have the individual sit forward and lower their head below their shoulders and between their knees. Ice or cold water in a cup is refreshing."

Medscape Reference reports that syncope is a prevalent disorder, accounting for 1-3% of emergency department visits and as many as 6% of hospital admissions each year in the United States. As much as 50% of the population may experience a syncopal event during their lifetime. In the United States alone, an estimated $2 billion annually is spent on patients hospitalized with syncope.


Noonan Syndrome is a genetic disorder that prevents normal development in various parts of the body. There are many ways that a person can be affected by this disorder, including facial characteristics, short stature and heart defects.

It is named after Dr. Jacqueline A. Noonan, who described the syndrome in 1962.

This syndrome is caused by a genetic mutation as the fetus inherits a copy of an affected gene from a parent. Other sufferers do not have a family history of this condition.

There is no specific treatment for Noonan Syndrome. Management of this problem consists of controlling the disorder's symptoms and complications.

I would add Dysautonomia-Abnormal functioning of the autonomic nervous system. It includes Postural Orthostatic Tachycardia as well a other Disorders.

Dysautonomia refers to a disorder of autonomic nervous system (ANS) function. Most physicians view dysautonomia in terms of failure of the sympathetic or parasympathetic components of the ANS, but dysautonomia involving excessive ANS activities also can occur. Dysautonomia can be local, as in reflex sympathetic dystrophy, or generalized, as in pure autonomic failure. It can be acute and reversible, as in Guillain-Barre syndrome, or chronic and progressive. Several common conditions such as diabetes and alcoholism can include dysautonomia. Dysautonomia also can occur as a primary condition or in association with degenerative neurological diseases such as Parkinson's disease. Other diseases with generalized, primary dysautonomia include multiple system atrophy and familial dysautonomia. Hallmarks of generalized dysautonomia due to sympathetic failure are impotence (in men) and a fall in blood pressure during standing (orthostatic hypotension). Excessive sympathetic activity can present as hypertension or a rapid pulse rate.

Abby, thank you for this very helpful post. A geneticist told me that people never get just one 'thing,' and if one structural congenital issue is present, there are more. The geneticist mentioned a possibility of Chromosome 22q11.2 deletions for me - DiGeorge Syndrome. But, the genetic studies cost $3,000, and I just couldn't do it. If you read about DiGeorge/22q11.2 deletions, you will see that Chiari, tethered cord, heart problems, scoliosis, high-arched palate, vertebral anomalies, etc etc. can occur in these genetic syndromes. Also, there may be a malrotation/malattachment of the gut. I spoke with one Chiari family where the one sister had Chiari, and the other sister had surgery for a twisted small intestine. The Chiari sister nearly fainted when I asked if there had been any gut surgeries in the family.

I do not have a classic malrotation of the gut ( which is VERY difficult to diagnose) but I have a long redundant colon ( sigmoid and transverse) which is telescoping in the sigmoid area, causing severe constipation, very thin stools, abd. pain, possible intermittent fever, and general mayhem. In the local fibromyalgia support group there have been 4 surgeries for twisted intestines ( large or small), and many people report this long, redundant colon. Some researchers feel that the redundant colon is a variation of the gut malrotation, but most docs dismiss the redundant colon as 'normal.' I suspect this is not true.

Several years ago I began to appreciate ( thru my experience and several others, lots of reading, long story) that some cases of idiopathic scoliosis may, in fact, be related to a gut that has not rotated ( in the early fetal stage) and attached correctly. The end result is an unbalanced core. We take 20,000 breaths a day - think how an unbalanced core can affect the entire body plan. Could it also result in a torque in the neural tube - from the sacrum to the brain - with a narrowing especially on one side of the occiput/brainstem area ? Also, would SI joint instability be more likely, since there would always be more tension on one SI joint ?? Would more tension ( torque) be transferred to the spinal cord?

I sent a letter to the editor of Scoliosis, the online international research group for scoliosis explaining my hypothesis. Great group !! They reviewed and published my letter and comments in Scoliosis, 2009, 4:28. But, virtually no researchers have commented as there is absolutely no research on this. I have a research article here where a child had abnormal immune issues which corrected after gut surgery to correct a malrotation.

So, for people with moderate to severe gut issues, it may be worth reading and knowing about these various malrotations of the gut, etc. I have a whole notebook of research. Whew.


Yes, this all seems to be part of a much bigger picture, but what ? Throughout my maternal line there are all kinds of these things: a case of SIDS, severe to mild scoliosis, Down's syndrome, congenital heart issues, death from 'twisted intestine," spina bifida occulta, hemifacial microsomia - geneticist told me I have this, not too noticeable, but one eye is smaller, one side of my 'smile' curves differently, ears not level - also can see it in other family members. Also, several with jaws that are obviously asymmetric, funny feet ( big bunions, hammer toes, very high arches( known to be associated with tethered cord), funny fingers - crooked little fingers, curving ( inward) index fingers, hitchhiker thumbs, vascular anomalies - ie hemangiomas in liver and on vertebrae, and more. And yet, Abby, there are wonderful gifts - verbal, intellectual, kindness, caring, elevated intuitiveness, intellect. I suspect that many Chiari/EDS families are like this. ( I do not have EDS, but many in fibro support group have it.) I am struggling to understand what this is all about.

I am a biologist, and it makes no sense that after millions of years of evolution that we should have a group of special people with special gifts, and yet so many health problems - issues big enough to make every day survival a challenge. There is an interesting book and web site by a special chiropractor with 3 years training in neurology - "The Downside of Upright Posture," by Michael Flanagan, D.C. He also has extensive studies in physical anthropology and skull shapes - also cranial deformation as practiced by ancient people of Peru/Bolivia. His conclusions at the end of the book are interesting.

I just don't know what to believe, or where to go for healing. Tried everything, but no surgery - since my headaches and pain are mostly manageable - fatigue is not.

Hope others will comment if they relate to what I've said.

Healing hugs- may Wisdom guide us, may Healing energies surround us, may we find a Pathway.