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__NOTOC__
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{{Arnold-Chiari malformation}}
{{Arnold-Chiari malformation}}
{{CMG}}
{{CMG}} {{AE}} {{Fs}}


==Symptoms==
<br />


In [[infant]]s, the most common symptoms are
== Overview ==
* [[Stridor]]  
[[Patients]] with Arnold-Chiari malformation may have a positive [[History and Physical examination|history]] of [[lumbar puncture]], lumbar-peritoneal shunt, [[hydrocephalus]], [[Syringomyelia|syringomyelias]],[[Tethered spinal cord syndrome]], [[Neurofibromatosis type I|neurofibromatosis type 1]], [[Noonan syndrome]], [[Pierre Robin syndrome|Pierre Robin sequence]], [[Klippel-Feil syndrome]], [[Albright hereditary osteodystrophy]], x-linked aqueductal stenosis, [[Goldenhar syndrome]], [[Williams syndrome]], [[Shprintzen-Golberg craniosynostosis|Shprintzen- goldberg syndrome]], [[achondroplasia]], familial osteosclerosis, [[velocardiofacial syndrome]], and [[connective tissue disorders]]. The most common [[symptoms]] of Arnold-Chiari malformation is [[headache]], [[arm pain]] and [[weakness]], [[neck pain]], [[nausea and vomiting]], [[Balance disorder|balance problem]], [[dizziness]] and [[ear ringing]].
* [[Swallowing]] difficulties  
==History and Symptoms==
 
=== History ===
[[Patients]] with Arnold-Chiari malformation may have a positive [[History and Physical examination|history]] of: <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><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>
 
* [[Female]] gender
* [[Lumbar puncture]]
* Lumbar-peritoneal shunt
* [[Connective tissue disease|Connective tissue disorder]]
* [[Hydrocephalus]]
* [[Syringomyelia]]<nowiki/>s
* Syndromes such as:
** [[Tethered spinal cord syndrome]]
** [[Neurofibromatosis type I|Neurofibromatosis type 1]]
** [[Noonan syndrome]]
** [[Pierre Robin syndrome|Pierre Robin sequence]]
** [[Klippel-Feil syndrome]]
** [[Albright hereditary osteodystrophy]]
** X-linked aqueductal stenosis
** [[Goldenhar syndrome]]
** [[Williams syndrome]]
** [[Shprintzen-Golberg craniosynostosis|Shprintzen- goldberg syndrome]]
** [[Achondroplasia]]
** Familial osteosclerosis
** [[Velocardiofacial syndrome]]
 
=== Common Symptoms ===
 
* Common [[Symptom|symptoms]] of Arnold-Chiari malformation type 1 and 2 include:<ref name="DysteMenezes1989">{{cite journal|last1=Dyste|first1=Gregg N.|last2=Menezes|first2=Arnold H.|last3=VanGilder|first3=John C.|title=Symptomatic Chiari malformations|journal=Journal of Neurosurgery|volume=71|issue=2|year=1989|pages=159–168|issn=0022-3085|doi=10.3171/jns.1989.71.2.0159}}</ref><ref name="BellCharney1987">{{cite journal|last1=Bell|first1=William O.|last2=Charney|first2=Edward B.|last3=Bruce|first3=Derek A.|last4=Sutton|first4=Leslie N.|last5=Schut|first5=Luis|title=Symptomatic Arnold-Chiari malformation: review of experience with 22 cases|journal=Journal of Neurosurgery|volume=66|issue=6|year=1987|pages=812–816|issn=0022-3085|doi=10.3171/jns.1987.66.6.0812}}</ref><ref name="PapasozomenosRoessmann1981">{{cite journal|last1=Papasozomenos|first1=S.|last2=Roessmann|first2=U.|title=Respiratory distress and Arnold-Chiari malformation|journal=Neurology|volume=31|issue=1|year=1981|pages=97–97|issn=0028-3878|doi=10.1212/WNL.31.1.97}}</ref>
** In [[infant]]s
***[[Stridor]]
***[[Swallowing]] difficulties
**In older children
*** Limb weakness
***[[Dizziness]]
***[[Vertigo]]
***[[Neuropathic pain]]
***[[Pain]] at the point of tethering
***[[Visual]] disturbances
*** Difficulty [[swallowing]]
*** Ringing in the ears
***[[Sleep apnea]]
*** Impaired [[fine motor]] skills
***[[Muscle weakness]]
***[[Palpitations]]
*** Excessive clearing of the throat with no obstructions
 
NOTE: Patients may experience no [[Symptom|symptoms]] or remain asymptomatic until early adulthood at which point they will often experience severe [[headaches]] and [[neck pain]].
 
NOTE: Some [[Patient|patients]] may go an entire lifetime without having noticeable [[Symptom|symptoms]]. Or, [[Symptom|symptoms]] can be minimal, then turn severe suddenly due to [[head trauma]] which alters the condition of the [[spine]], [[brain]], or [[cerebellar tonsils]] and begins to cause more difficulties.
 
* Common [[symptoms]] of Arnold-Chiari malformation type 3 and 4 include:
**[[Respiratory failure]] in [[infancy]]
**[[Seizure]] ([[epilepsy]])
**[[Mental retardation]]
**[[Flaccid]] or [[spastic paralysis]]
** Sever [[neurological]] problems[[File:Untitleddd.png|700px|none|thumb|Source: {{Fs}}]]
 
<br />
=== Less Common Symptoms ===
Less common symptoms of Arnold-Chiari malformation include:


In older children
* Upper (and lower as age marches on) limb weakness
* [[Breathing difficulties]] may occur
* Patients may experience no symptoms or remain asymptomatic until early adulthood at which point they will often experience severe headaches and neck pain
* [[Fatigue]]
* [[Fatigue]]
* [[Dizziness]]
* [[Breathing difficulties]]
* [[Vertigo]]
* [[Neuropathic pain]]
* [[Pain]] at the point of tethering
* [[Visual]] disturbances
* Difficulty [[swallowing]]
* Ringing in the ears
* [[Sleep apnea]]
* Impaired [[fine motor]] skills
* Muscle weakness
* [[Palpitations]]
* Excessive clearing of the throat with no obstructions
* Because of the complex combination of symptoms and the lack of experience with ACM1 had by many, even outstanding neurologists and neurosurgeons, many patients are frequently misdiagnosed.
* Some patients may go an entire lifetime without having noticeable symptoms. Or, symptoms can be minimal, then turn severe suddenly due to head trauma which alters the condition of the spine, brain, or cerebellar tonsils and begins to cause more difficulties.
 
<gallery>
Image:Arnold-Chiari Malformation 0032.jpg|Skin: Myelomeningocele with Hydrocephalus; Arnold Chiari; Note Underdevelopment of Legs
</gallery>


==References==
==References==

Latest revision as of 21:15, 28 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

Patients with Arnold-Chiari malformation may have a positive history of lumbar puncture, lumbar-peritoneal shunt, hydrocephalus, 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, and connective tissue disorders. The most common symptoms of Arnold-Chiari malformation is headache, arm pain and weakness, neck pain, nausea and vomiting, balance problem, dizziness and ear ringing.

History and Symptoms

History

Patients with Arnold-Chiari malformation may have a positive history of: [1][2][3][4][5][6]

Common Symptoms

NOTE: Patients may experience no symptoms or remain asymptomatic until early adulthood at which point they will often experience severe headaches and neck pain.

NOTE: Some patients may go an entire lifetime without having noticeable symptoms. Or, symptoms can be minimal, then turn severe suddenly due to head trauma which alters the condition of the spine, brain, or cerebellar tonsils and begins to cause more difficulties.


Less Common Symptoms

Less common symptoms of Arnold-Chiari malformation include:

References

  1. ↑ "Neuropathology For Medical Students".
  2. ↑ 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)
  3. ↑ 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.
  4. ↑ 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.
  5. ↑ 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.
  6. ↑ 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.
  7. ↑ Dyste, Gregg N.; Menezes, Arnold H.; VanGilder, John C. (1989). "Symptomatic Chiari malformations". Journal of Neurosurgery. 71 (2): 159–168. doi:10.3171/jns.1989.71.2.0159. ISSN 0022-3085.
  8. ↑ Bell, William O.; Charney, Edward B.; Bruce, Derek A.; Sutton, Leslie N.; Schut, Luis (1987). "Symptomatic Arnold-Chiari malformation: review of experience with 22 cases". Journal of Neurosurgery. 66 (6): 812–816. doi:10.3171/jns.1987.66.6.0812. ISSN 0022-3085.
  9. ↑ Papasozomenos, S.; Roessmann, U. (1981). "Respiratory distress and Arnold-Chiari malformation". Neurology. 31 (1): 97–97. doi:10.1212/WNL.31.1.97. ISSN 0028-3878.


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