Arnold-Chiari malformation pathophysiology: Difference between revisions
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==Genetics== | ==Genetics== | ||
* Genes involved in the pathogenesis of Arnold-Chiari malformation include: | * Genes involved in the pathogenesis of Arnold-Chiari malformation include:<ref name="SchankerWalcott2011">{{cite journal|last1=Schanker|first1=Benjamin D.|last2=Walcott|first2=Brian P.|last3=Nahed|first3=Brian V.|last4=Kahle|first4=Kristopher T.|last5=Li|first5=Yan Michael|last6=Coumans|first6=Jean-Valery C. E.|title=Familial Chiari malformation: case series|journal=Neurosurgical Focus|volume=31|issue=3|year=2011|pages=E1|issn=1092-0684|doi=10.3171/2011.6.FOCUS11104}}</ref> | ||
**PAX1 | **PAX1 | ||
**PAX2 | **PAX2 | ||
| Line 63: | Line 63: | ||
==Associated Conditions== | ==Associated Conditions== | ||
Conditions associated with Arnold-Chiari malformation include:<ref name="urlNeuropathology For Medical Students">{{cite web|url=http://www.pathology.vcu.edu/WirSelfInst/neuro_medStudents/devdis.html |title=Neuropathology For Medical Students |work= |accessdate=}}</ref><ref name="Milhorat-2007">{{Cite journal|author=Milhorat TH, Bolognese PA, Nishikawa M, McDonnell NB, Francomano CA |title=Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and chiari malformation type I in patients with hereditary disorders of connective tissue |journal=[[Journal of Neurosurgery|Journal of Neurosurgery: Spine]] |volume=7 |issue=6 |pages=601–9 |year=2007 |month=December |pmid=18074684 |doi=10.3171/SPI-07/12/601 |url=http://thejns.org/doi/full/10.3171/SPI-07/12/601}}</ref><ref name="pmid11598609">{{cite journal |vauthors=Holder-Espinasse M, Abadie V, Cormier-Daire V, Beyler C, Manach Y, Munnich A, Lyonnet S, Couly G, Amiel J |title=Pierre Robin sequence: a series of 117 consecutive cases |journal=J. Pediatr. |volume=139 |issue=4 |pages=588–90 |date=October 2001 |pmid=11598609 |doi=10.1067/mpd.2001.117784 |url=}}</ref><ref name="pmid15087107">{{cite journal |vauthors=Tubbs RS, Rutledge SL, Kosentka A, Bartolucci AA, Oakes WJ |title=Chiari I malformation and neurofibromatosis type 1 |journal=Pediatr. Neurol. |volume=30 |issue=4 |pages=278–80 |date=April 2004 |pmid=15087107 |doi=10.1016/j.pediatrneurol.2003.09.013 |url=}}</ref> | Conditions associated with Arnold-Chiari malformation include:<ref name="urlNeuropathology For Medical Students">{{cite web|url=http://www.pathology.vcu.edu/WirSelfInst/neuro_medStudents/devdis.html |title=Neuropathology For Medical Students |work= |accessdate=}}</ref><ref name="Milhorat-2007">{{Cite journal|author=Milhorat TH, Bolognese PA, Nishikawa M, McDonnell NB, Francomano CA |title=Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and chiari malformation type I in patients with hereditary disorders of connective tissue |journal=[[Journal of Neurosurgery|Journal of Neurosurgery: Spine]] |volume=7 |issue=6 |pages=601–9 |year=2007 |month=December |pmid=18074684 |doi=10.3171/SPI-07/12/601 |url=http://thejns.org/doi/full/10.3171/SPI-07/12/601}}</ref><ref name="pmid11598609">{{cite journal |vauthors=Holder-Espinasse M, Abadie V, Cormier-Daire V, Beyler C, Manach Y, Munnich A, Lyonnet S, Couly G, Amiel J |title=Pierre Robin sequence: a series of 117 consecutive cases |journal=J. Pediatr. |volume=139 |issue=4 |pages=588–90 |date=October 2001 |pmid=11598609 |doi=10.1067/mpd.2001.117784 |url=}}</ref><ref name="pmid15087107">{{cite journal |vauthors=Tubbs RS, Rutledge SL, Kosentka A, Bartolucci AA, Oakes WJ |title=Chiari I malformation and neurofibromatosis type 1 |journal=Pediatr. Neurol. |volume=30 |issue=4 |pages=278–80 |date=April 2004 |pmid=15087107 |doi=10.1016/j.pediatrneurol.2003.09.013 |url=}}</ref><ref name="SchankerWalcott20112">{{cite journal|last1=Schanker|first1=Benjamin D.|last2=Walcott|first2=Brian P.|last3=Nahed|first3=Brian V.|last4=Kahle|first4=Kristopher T.|last5=Li|first5=Yan Michael|last6=Coumans|first6=Jean-Valery C. E.|title=Familial Chiari malformation: case series|journal=Neurosurgical Focus|volume=31|issue=3|year=2011|pages=E1|issn=1092-0684|doi=10.3171/2011.6.FOCUS11104}}</ref> | ||
*[[Hydrocephalus]]<ref name="pmid14564218">{{cite journal |vauthors=Holder-Espinasse M, Winter RM |title=Type 1 Arnold-Chiari malformation and Noonan syndrome. A new diagnostic feature? |journal=Clin. Dysmorphol. |volume=12 |issue=4 |pages=275 |date=October 2003 |pmid=14564218 |doi=10.1097/01.mcd.0000081505.97834.0a |url=}}</ref> | *[[Hydrocephalus]]<ref name="pmid14564218">{{cite journal |vauthors=Holder-Espinasse M, Winter RM |title=Type 1 Arnold-Chiari malformation and Noonan syndrome. A new diagnostic feature? |journal=Clin. Dysmorphol. |volume=12 |issue=4 |pages=275 |date=October 2003 |pmid=14564218 |doi=10.1097/01.mcd.0000081505.97834.0a |url=}}</ref> | ||
Revision as of 18:03, 8 August 2019
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Arnold-Chiari malformation Microchapters |
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Differentiating Arnold-Chiari malformation from other Diseases |
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Diagnosis |
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Treatment |
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Case Studies |
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Arnold-Chiari malformation pathophysiology On the Web |
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American Roentgen Ray Society Images of Arnold-Chiari malformation pathophysiology |
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Risk calculators and risk factors for Arnold-Chiari malformation pathophysiology |
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
- Genes involved in the pathogenesis of Arnold-Chiari malformation include:[1]
- PAX1
- PAX2
- PAX3
- PAX6
- FGF2
- TBX6
- HOX gene
- Noggin gene
- EFNB1
- There are many findings emphasizing on genetic basic of Chiari malformation including:
- Many studies described higher prevalence of Chiari malformation among mono zygote twins or between family members.
- There are some evidence showing autosomal dominant/ recessive transmission.
- There are many genetic conditions that have association with Chiari malformation.
Associated Conditions
Conditions associated with Arnold-Chiari malformation include:[2][3][4][5][6]
- Hydrocephalus[7]
- Syringomyelias
- Tethered spinal cord syndrome
- Neurofibromatosis type 1
- Noonan syndrome
- Pierre Robin sequence
- Klippel-Feil syndrome
- Albright hereditary osteodystrophy
- X-linked aqueductal stenosis
- Goldenhar syndrome
- Williams syndrome
- Shprintzen- goldberg syndrome
- Achondroplasia
- Familial osteosclerosis
- Velocardiofacial syndrome
- Connective tissue disorders such as:
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.
References
- ↑ Schanker, Benjamin D.; Walcott, Brian P.; Nahed, Brian V.; Kahle, Kristopher T.; Li, Yan Michael; Coumans, Jean-Valery C. E. (2011). "Familial Chiari malformation: case series". Neurosurgical Focus. 31 (3): E1. doi:10.3171/2011.6.FOCUS11104. ISSN 1092-0684.
- ↑ "Neuropathology For Medical Students".
- ↑ Milhorat TH, Bolognese PA, Nishikawa M, McDonnell NB, Francomano CA (2007). "Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and chiari malformation type I in patients with hereditary disorders of connective tissue". Journal of Neurosurgery: Spine. 7 (6): 601–9. doi:10.3171/SPI-07/12/601. PMID 18074684. Unknown parameter
|month=ignored (help) - ↑ Holder-Espinasse M, Abadie V, Cormier-Daire V, Beyler C, Manach Y, Munnich A, Lyonnet S, Couly G, Amiel J (October 2001). "Pierre Robin sequence: a series of 117 consecutive cases". J. Pediatr. 139 (4): 588–90. doi:10.1067/mpd.2001.117784. PMID 11598609.
- ↑ Tubbs RS, Rutledge SL, Kosentka A, Bartolucci AA, Oakes WJ (April 2004). "Chiari I malformation and neurofibromatosis type 1". Pediatr. Neurol. 30 (4): 278–80. doi:10.1016/j.pediatrneurol.2003.09.013. PMID 15087107.
- ↑ Schanker, Benjamin D.; Walcott, Brian P.; Nahed, Brian V.; Kahle, Kristopher T.; Li, Yan Michael; Coumans, Jean-Valery C. E. (2011). "Familial Chiari malformation: case series". Neurosurgical Focus. 31 (3): E1. doi:10.3171/2011.6.FOCUS11104. ISSN 1092-0684.
- ↑ Holder-Espinasse M, Winter RM (October 2003). "Type 1 Arnold-Chiari malformation and Noonan syndrome. A new diagnostic feature?". Clin. Dysmorphol. 12 (4): 275. doi:10.1097/01.mcd.0000081505.97834.0a. PMID 14564218.