What is Chiari Malformation (CM)?

Chiari Malformation is a structural defect in the cerebellum. The cerebellum is the part of the brain that controls balance. Chiari is pronounced as Kee-AR-ee and was coined by Hans Chiari, an Austrian pathologist, in the early1890s. Chiari Malformation Type I is the most common type of Chiari Malformation. Chiari occurs when the lower part of the brain, called the tonsils of the cerebellum, partly descends into the spinal canal and interrupts the flow of the cerebrospinal fluid, which can cause numerous symptoms.

Different Types of Chiari Malformation

There are four different types of Chiari: Type I, II, III, and IV. Type I is the most common and Types III and IV are very rare. These types are classified by the severity of the condition and which pieces of the brain descend into the spinal canal.

Type I (CM1) occurs when the lower part of the brain, called the tonsils of the cerebellum, partly descends into the spinal canal and may interrupt the flow of the cerebrospinal fluid, which can cause numerous symptoms: this usually does not involve the brainstem and, through the opening, only the spinal cord passes through. People with Type I can be asymptomatic until adolescence, adult hood, and can remain asymptomatic their entire life.

Type II (CM2) is also called Arnold-Chiari Malformation. Type II occurs when both the tonsils of the cerebellum and the brainstem descend into the spinal canal. Myelomeningocele, which is a form of spinal bifida where the backbone and spinal canal do not close in fetal development (causing the spinal cord to protrude through a sac-like opening in the back), is common with Chiari Type II. In the area below the spinal opening, Myelomeningocele can result in a complete or partial paralysis.

Type III (CM3) is the most severe form of Chiari Malformation. Type III occurs when both the tonsils of the cerebellum and the brainstem protrude though the foramen magnum into the spinal cord. Through an abnormal opening in the back or skull, the brain or spinal cord can protrude. Severe neurological issues results from Chiari Type III.

Type IV (CM4) is the rarest form of Chiari. Which occurs when the brain does not develop correctly, also known as cerebella hypoplasia.

What is Syringomyelia (SM)?

Syringomyelia (SM) is a disorder in which a cyst forms within the spinal cord. Pronounced as (sear-IN-go-my-EEL-ya). This cyst, called a syrinx, expands and elongates over time, destroying the center of the spinal cord. Since the spinal cord connects the brain to nerves in the extremities, this damage results in pain, weakness, and stiffness in the back, shoulders, arms, or legs. Other symptoms may include headaches and a loss of the ability to feel extremes of hot or cold, especially in the hands. Each patient experiences a different combination of symptoms. Magnetic resonance imaging (MRI) has significantly increased the number of syringomyelia cases diagnosed in the beginning stages of the disorder. Signs of the disorder tend to develop slowly, although sudden onset may occur with coughing or straining. If not treated surgically, syringomyelia often leads to progressive weakness in the arms and legs, loss of hand sensation, and chronic, severe pain. In most cases, the disorder is related to a congenital abnormality of the brain called a Chiari I malformation. This malformation occurs during the development of the fetus and 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. Syringomyelia may occur as a complication of trauma, meningitis, hemorrhage, a tumor, or arachnoiditis. Symptoms may appear months or even years after the initial injury, starting with pain, weakness, and sensory impairment originating at the site of trauma. Some cases of syringomyelia are familial, although this is rare.

What is Tethered Spinal Cord Syndrome (TCS)?

Tethered Spinal Cord Syndrome or Occult Spinal Dysraphism Sequence is a rare neurological disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal column. These attachments cause an abnormal stretching of the spinal cord. This stretching interferes with the function of the nerves in the spinal cord and can cause problems with sensation, movement, and control of body functions.  In addition to the 'typical' tethering, there is a more common variation referred to as Occult Tight Filum Terminale Syndrome. In this variation, the filum terminale (which joins the spinal cord to the backbone) thickens or hardens and causes downward pressure on the spinal cord. This can actually cause scoliosis as well as most of the other symptoms of the more typical tethered cord.

What is Scoliosis?

Scoliosis is a medical condition in which a person's spine is curved from side to side. Although it is a complex three-dimensional deformity, on an x-ray, viewed from the rear, the spine of an individual with a typical scoliosis may look more like an "S" or a "C" than a straight line. It is typically classified as either congenital (caused by vertebral anomalies present at birth), idiopathic (cause unknown, sub-classified as infantile, juvenile, adolescent, or adult according to when onset occurred) or neuromuscular (having developed as a secondary symptom of another condition, such as spina bifida, cerebral palsy, spinal muscular atrophy or physical trauma). This condition affects approximately 7 million people in the United States.

What is Ehlers-Danlos Syndrome (EDS)?

Ehlers-Danlos syndrome (EDS), also known as Cutis hyperelastica, is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen (a protein in connective tissue). The collagen in connective tissue helps tissues to resist deformation (decreases its elasticity). In the skin, muscles, ligaments, blood vessels, and visceral organs collagen plays a very significant role and with increased elasticity, secondary to abnormal collagen, pathology results. Depending on the individual mutation, the severity of the syndrome can vary from mild to life-threatening. There is no cure and treatment is supportive, including close monitoring of cardiovascular system. The syndrome is named after two doctors, Edvard Ehlers of Denmark, and Henri-Alexandre Danlos of France.

For general health information and support groups please visit Chiari Connection International (CCI) www.chiariconnectioninternational.com

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