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Overview

 

Chiari malformations

What Is A Chiari Malformation?

Chiari malformations (CMs) are structural defects in the cerebellum, the part of the brain that controls balance. Normally the cerebellum and parts of the brain stem sit in an indented space at the lower rear of the skull, above the foramen magnum (a funnel-like opening to the spinal canal). When part of the cerebellum is located below the foramen magnum, it is called a Chiari malformation.

A Chiari malformation is a congenital (present at birth) defect in the area of the back of the head where the brain and spinal cord connect.

There are four types of Chiari malformations, including the following: -
  • type I - commonly goes unnoticed until problems arise in the adolescent or adult years of life. In this condition, the base of the skull and the upper spinal area are not formed properly.
  • type II - this is the most common type of Chiari malformation and is sometimes called Arnold-Chiari malformation. In this condition, part of the back of the brain shifts downward through the bottom of the skull area.
    • Type II Chiari malformations are typically seen in infants who are born with spina bifida, a neurological condition that causes a portion of the spinal cord and the surrounding structures to develop outside, instead of inside, the body.
    • Type II Chiari malformations can also be associated with a condition known as hydrocephalus. Hydrocephalus is a condition in which there is an overproduction or lack of absorption of the cerebral spinal fluid (CSF) that is found inside of the ventricles (fluid-filled areas) inside of the brain. The increased fluid causes the pressure inside of the head to increase and the skull bones to expand to a larger-than-normal appearance.
  • type III - the back of the brain protrudes out of an opening in the back of the skull area.
  • type IV - the back of the brain fails to develop normally.


What Is The Prognosis?

Many people with Type I CM are asymptomatic and do not know they have the condition. Many patients with the more severe types of CM and have surgery see a reduction in their symptoms and/or prolonged periods of relative stability, although paralysis is generally permanent.

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What Causes Chiari Malformation?

Theories suggest that the following may predispose the fetus to problems that affect the normal development of the head during pregnancy: -
  • exposure to hazardous chemicals/substances
  • lack of proper vitamins and nutrients in the diet
  • infection
  • prescription or illegal drug and alcohol consumption


What Are The Symptoms Of A Chiari Malformation?

The most common symptom of Chiari malformation is a headache, which begins at the back of the head (neck) and radiates upward. The pain is often made worse or can be brought on by coughing, sneezing or straining. These activities are known as valsalva maneuvers.


Symptoms may include: -
  • rapid, back and forth, eye movement
  • developmental delays
  • poor feeding and swallowing
  • stiffness or pain in the neck or back of the head area
  • weak cry
  • breathing problems
  • headaches
  • decreased strength in the arms


The symptoms of Chiari malformation may resemble other conditions or medical problems. Always consult your child's physician for a diagnosis.

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How Is A Chiari Malformation Diagnosed?

Diagnostic tests that may be performed to confirm the diagnosis of a Chiari malformation include: -
  • x-rays - a diagnostic test which uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film.
  • computed tomography scan (Also called a CT or CAT scan.) - a diagnostic imaging procedure that uses a combination of x-rays and computer technology to produce cross-sectional images (often called slices), both horizontally and vertically, of the body. A CT scan shows detailed images of any part of the body, including the bones, muscles, fat, and organs. CT scans are more detailed than general x-rays.
  • magnetic resonance imaging (MRI) - a diagnostic procedure that uses a combination of large magnets, radiofrequencies, and a computer to produce detailed images of organs and structures within the body.


Is There A Treatment?

The first step after diagnosis is to consult with a neurosurgeon who has experience treating and managing this disorder. Be aware that you may need to travel and you may wish to consult with more than one specialist.

If symptoms are mild and not progressing, your doctor may recommend conservative management. Supportive care such as headache and pain management, physical therapy or a reduction in activities can help manage symptoms.

An operation may be recommended. This is referred to as a posterior fossa decompression. The surgeon makes more room in the back of the head by removing small pieces of the skull bones. This reduces compression of the brain stem and allows the tonsils to move back into their natural position. The specific surgical techniques will vary among surgeons; no consensus yet exists on the best variation on this surgical procedure.

Specific treatment for a Chiari malformation will be determined by your child's physician based on: -
  • your child's age, overall health, and medical history
  • the extent of the condition
  • the type of condition
  • your child's tolerance for specific medications, procedures, or therapies
  • expectations for the course of the condition
  • your opinion or preference


Medical management consists of frequent physical examinations and diagnostic testing to monitor the growth and development of the brain, spinal cord, skull, and backbones.




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