Arnold-Chiari malformation pathophysiology

Arnold-Chiari malformation Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Fahimeh Shojaei, M.D.

Overview

The exact pathogenesis of [disease name] is not fully understood.

OR

It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].

OR

[Pathogen name] is usually transmitted via the [transmission route] route to the human host.

OR

Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.

OR

[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].

OR

The progression to [disease name] usually involves the [molecular pathway].

OR

The pathophysiology of [disease/malignancy] depends on the histological subtype.

Pathophysiology

Physiology

The normal physiology of [name of process] can be understood as follows:

Pathogenesis

• The exact pathogenesis of [disease name] is not completely understood.

OR

• It is understood that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
• [Pathogen name] is usually transmitted via the [transmission route] route to the human host.
• Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
• [Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
• The progression to [disease name] usually involves the [molecular pathway].
• The pathophysiology of [disease/malignancy] depends on the histological subtype.

Genetics

[Disease name] is transmitted in [mode of genetic transmission] pattern.

OR

Genes involved in the pathogenesis of [disease name] include:

• [Gene1]
• [Gene2]
• [Gene3]

OR

The development of [disease name] is the result of multiple genetic mutations such as:

• [Mutation 1]
• [Mutation 2]
• [Mutation 3]

Associated Conditions

Conditions associated with [disease name] include:

• [Condition 1]
• [Condition 2]
• [Condition 3]

Gross Pathology

On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].

Microscopic Pathology

On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].

• The most widely accepted pathophysiological mechanism by which Chiari Type 1 Malformations occur is by a reduction or lack of development of the posterior fossa as a result of either congenital or acquired disorders.
• The cerebellar tonsils are elongated and pushed down through the opening of the base of the skull (see foramen magnum), blocking the flow of cerebrospinal fluid (CSF).
• The brainstem, cranial nerves, and the lower portion of the cerebellum may be stretched or compressed.
• Therefore, any of the functions controlled by these areas may be affected. The blockage of CSF flow may also cause a syrinx to form, eventually leading to syringomyelia. Many sufferers turn to the Chiari Institute in Long Island, NY for specialized medical attention and medication.

Other conditions sometimes associated with Chiari Malformation include hydrocephalus, syringomyelia, spinal curvature, tethered spinal cord syndrome, and connective tissue disorders such as Ehlers-Danlos syndrome and Marfan Syndrome.

• 
  Brain: Arnold-Chiari Malformation: Gross fixed tissue sagittal section brain stem
• 
  Brain: Arnold Chiari Malformation: Gross fixed tissue sagittal section cerebrum brainstem and cerebellum
• 
  Brain: Arnold Chiari Malformation And Polygyria: Gross fix tissue external view

References

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