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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.
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.
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.
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)(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.
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.
For LINKS on these problems, PLEASE CLICK HERE.
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.