CHIARI MALFORMATION

CHIARI MALFORMATION

Definition and Description
Chiari malformation is a rare genetic disorder in which parts of the brain protrude through the opening in the base of the skull into the spinal column. This displaced tissue may obstruct the flow of cerebrospinal fluid which nourishes the brain and spinal cord. A German pathologist named Chiari was the first to describe Arnold-Chiari malformation in 1891. There are four major regions of the brain affected in Chiari malformation:
 The cerebellum --- its main purpose is to coordinate the body movements
 The brain stem --- it regulates involuntary actions the body must conduct to survive, such as breathing, swallowing, and blinking the eyes
 The ventricles --- their function is to produce and circulate cerebrospinal fluid
 The cerebrum --- it’s responsible for the higher functions of the brain, such as thought

Causes and Symptoms
Although this malformation is present at birth, there may not be any symptoms of a problem until adulthood. Women have a higher incidence of this disorder than men. One of the most common symptoms of Chiari malformation is a headache. Coughing, sneezing, or bending forward may bring on these headaches which can last minutes or hours and can be linked with nausea. There may be neck or upper arm pain. Often pain is more on one side, rather than equal on both sides. There also may be weakness in the arm or hand, tingling, burning, numbness, difficulty swallowing, hoarseness, visual problems, and balance can be affected.
The exact cause is unknown; however, it is suspected that an increased pressure in the brain during embryonic development may cause brain structures to be displaced into the spinal canal. Other possible causes include exposure to harmful substances during fetal development or genetic factors. There has not yet been found a gene responsible for Chiari malformation or a study that shows whether or not this disorder is inherited, but there are reports of several families where more than one family member has this malformation.

Diagnosis and Treatment
To diagnosis Chiari malformation a complete medical history, physical exam, and a thorough neurological exam will be conducted by physician. The following procedures are also commonly used for diagnosis and follow up care:
 MRI --- the most helpful diagnostic tool which allows doctors to see the brain and spinal cord from several different angles
 CT --- produces cross-section images of the body that are helpful in assessing abnormalities of the brain and backbone
 Ultrasound --- a diagnostic procedure used to visualize internal organs
The recommended treatment for Chiari malformation is surgery

For more information: http://www.healthline.com/galecontent/chiari-malformation or
http://www.healthline.com/galecontent/arnold-chiari-malformation