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.


MITOCHONDRIAL DISEASE (MY-tow-CON-dree-all)

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.


SCOLIOSIS (SKO-lee-OH-sis)

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 (AWE-tism)

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)(Klep-PEL FIle)

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.

SOURCES:
UCLA Neurosurgery, UCLA Spine Center, PubMed Health, MedlinePlus, National Institute of Neurological Disorders and Stroke, Hydrocephalus Association, Spina Bifida Association, WebMedLit, Ehlers-Danlos National Foundation, Ehlers-Danlos Syndrome Network C.A.R.E.S. Foundation, MitoAction, iScoliosis.com, Autism Speaks, Klippel-Feil Syndrome Alliance, National Fibromyalgia Research Association (NFRA), National Fibromyalgia & Chronic Pain Association, Louis Calder Memorial Library of the University of Miami/Jackson Memorial Medical Center, RASopathies Foundation and The Noonan Syndrome Support Group, Inc.