Arnold Chiari Malformation
From WikiGenetics
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[edit] Name of Condition
In 1891, Hans von Chiari described certain hindbrain abnormalities as postmortem findings in infants. These came to be known as Chiari malformations. Four types of Chiari malformations are described in the literature: types I, II, III, and IV.
[edit] Definition
Chiari I malformation (CMI) is characterized by herniation of the cerebellar tonsils through the foramen magnum into the cervical spinal canal. The cerebellar tonsils often are elongated and peglike, putting pressure on both the brain and spine and causing many symptoms.
[edit] Description, Signs and Symptoms
[edit] Inheritance
CMI is predominantly a congenital abnormality. Although some cases have been found to be a result of head trauma or spontaneous intercranial hypotension.
[edit] Demographics
Chiari Malformation affects approximately 300,000 people in the US. Although this prevalance number is thought to be much higher do to frequent misdiagnosis. Patients often go 5 years with symptoms before being properly diagnosed. All types of Chiari Malformation are listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institute of Health (NIH). This means that each subtype of Chiari Malformation affects less than 200,000 people in the US population.
Chiari malformation comorbidity:
30% of children born with spina bifida are also born with a Chiari Malformation.
[edit] Diagnosis
[edit] Treatment and Management
[edit] Prognosis
[edit] Resources
[edit] References
http://www.emedicine.com/radio/byname/Chiari-I-Malformation.htm http://www.wrongdiagnosis.com/c/chiari_malformation/prevalence.htm
