Arnold-Chiari malformation causes: Difference between revisions

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__NOTOC__
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{{Arnold-Chiari malformation}}
{{Arnold-Chiari malformation}}
{{CMG}}
 
{{CMG}}; {{AE}} {{Fs}}
==Overview==
==Overview==
The cause of Arnold Chiari malformation include [[craniosynostosis]], [[osteopetrosis]], [[vitamin D deficiency]] and [[genetic mutations]].
==Causes==
===Common Causes===
Common causes of Arnold Chiari malformation may include:<ref name="KuetherPiatt1998">{{cite journal|last1=Kuether|first1=Todd A.|last2=Piatt|first2=Joseph H.|title=Chiari Malformation Associated with Vitamin D-resistant Rickets: Case Report|journal=Neurosurgery|volume=42|issue=5|year=1998|pages=1168–1171|issn=0148-396X|doi=10.1097/00006123-199805000-00134}}</ref><ref name="CinalliSpennato2005">{{cite journal|last1=Cinalli|first1=Giuseppe|last2=Spennato|first2=Pietro|last3=Sainte-Rose|first3=Christian|last4=Arnaud|first4=Eric|last5=Aliberti|first5=Ferdinando|last6=Brunelle|first6=Francis|last7=Cianciulli|first7=Emilio|last8=Renier|first8=Dominique|title=Chiari malformation in craniosynostosis|journal=Child's Nervous System|volume=21|issue=10|year=2005|pages=889–901|issn=0256-7040|doi=10.1007/s00381-004-1115-z}}</ref><ref name="DlouhyMenezes2011">{{cite journal|last1=Dlouhy|first1=Brian J.|last2=Menezes|first2=Arnold H.|title=Osteopetrosis with Chiari I malformation: presentation and surgical management|journal=Journal of Neurosurgery: Pediatrics|volume=7|issue=4|year=2011|pages=369–374|issn=1933-0707|doi=10.3171/2011.1.PEDS10353}}</ref>
*[[Craniosynostosis]]
*[[Osteopetrosis]]
===Less Common Causes===
Less common causes of Arnold Chiari malformation include:


== Causes ==
*[[Vitamin D]]-resistant [[rickets]]


Congenital causes are
===Genetic Causes===
* [[Craniosynostosis]] (especially of the lambdoid suture)
Arnold Chiari malformation is caused by a [[mutation]] in following [[Gene|genes]]:<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>
* [[Hyperostosis]] (ex. craniometaphyseal dysplasia
* [[Osteopetrosis]]
* [[X-linked vitamin D-resistant rickets]]
* [[Neurofibromatosis type I]]


Acquired disorders include space occupying lesions due to one of several potential causes ranging from brain tumors to hematomas.<ref name="pmid21882908">{{Cite journal|author=Loukas M, Shayota BJ, Oelhafen K, Miller JH, Chern JJ, Tubbs RS, Oakes WJ |title=Associated disorders of Chiari Type I malformations: a review |journal=Neurosurg Focus |volume=31 |issue=3 |pages=E3 |year=2011 |pmid=21882908 |doi=10.3171/2011.6.FOCUS11112 |url=http://thejns.org/doi/abs/10.3171/2011.6.FOCUS11112}}</ref>
*[[PAX1]]
*[[PAX2]]
*[[PAX3]]
*[[PAX6]]
*[[FGF2]]
*[[TBX6]]
* HOX gene
*[[Noggin (protein)|Noggin]] gene
* EFNB1


==References==
==References==
{{reflist|2}}
{{reflist|2}}
[[Category:Neurology]]
[[Category:Disease]]
[[Category:Nervous system]]
[[Category:Neurological disorders]]
[[Category:Needs overview]]


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Latest revision as of 00:28, 19 September 2019

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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 cause of Arnold Chiari malformation include craniosynostosis, osteopetrosis, vitamin D deficiency and genetic mutations.

Causes

Common Causes

Common causes of Arnold Chiari malformation may include:[1][2][3]

Less Common Causes

Less common causes of Arnold Chiari malformation include:

Genetic Causes

Arnold Chiari malformation is caused by a mutation in following genes:[4]

References

  1. Kuether, Todd A.; Piatt, Joseph H. (1998). "Chiari Malformation Associated with Vitamin D-resistant Rickets: Case Report". Neurosurgery. 42 (5): 1168–1171. doi:10.1097/00006123-199805000-00134. ISSN 0148-396X.
  2. Cinalli, Giuseppe; Spennato, Pietro; Sainte-Rose, Christian; Arnaud, Eric; Aliberti, Ferdinando; Brunelle, Francis; Cianciulli, Emilio; Renier, Dominique (2005). "Chiari malformation in craniosynostosis". Child's Nervous System. 21 (10): 889–901. doi:10.1007/s00381-004-1115-z. ISSN 0256-7040.
  3. Dlouhy, Brian J.; Menezes, Arnold H. (2011). "Osteopetrosis with Chiari I malformation: presentation and surgical management". Journal of Neurosurgery: Pediatrics. 7 (4): 369–374. doi:10.3171/2011.1.PEDS10353. ISSN 1933-0707.
  4. 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.


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