Arnold–Chiari malformation

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Chiari
Classification and external resources
MRI of human brain with type-1 Arnold-Chiari malformation and herniated cerebellum.jpg
A sagittal FLAIR MRI scan, from a patient with an Arnold-Chiari malformation, demonstrating tonsillar herniation of 7 mm
ICD-10 Q07.0
ICD-9 348.4,741.0
OMIM 207950
DiseasesDB 899
Patient UK Arnold–Chiari malformation
MeSH D001139

Chiari malformation, also known as Arnold–Chiari malformation, is a malformation of the brain. It consists of a downward displacement of the cerebellar tonsils through the foramen magnum (the opening at the base of the skull), sometimes causing non-communicating hydrocephalus[1] as a result of obstruction of cerebrospinal fluid (CSF) outflow.[2] The cerebrospinal fluid outflow is caused by phase difference in outflow and influx of blood in the vasculature of the brain. It can cause headaches, fatigue, muscle weakness in the head and face, difficulty swallowing, dizziness, nausea, impaired coordination, and, in severe cases, paralysis.[3]

Classification[edit]

In the late 19th century, Austrian pathologist Hans Chiari described seemingly related anomalies of the hindbrain; the so-called Chiari malformations I, II and III. Later, other investigators added a fourth (Chiari IV) malformation. The scale of severity is rated I - IV, with IV being the most severe. Types III and IV are very rare.[4]

Type Presentation Clinical Features
I

A congenital malformation. Is generally asymptomatic during childhood, but often manifests with headaches and cerebellar symptoms. Herniation of cerebellar tonsils.[5][6][7] Tonsillar ectopia of more than 3 mm below foramen magnum. Syringomyelia of cervical or cervicothoracic spinal cord can be seen. Sometimes the medullary kink and brainstem elongation can be seen. Syndrome of occipitoatlantoaxial hypermobility is an acquired Chiari I malformation in patients with hereditary disorders of connective tissue.[8] Patients who exhibit extreme joint hypermobility and connective tissue weakness as a result of Ehlers-Danlos syndrome or Marfan syndrome are susceptible to instabilities of the craniocervical junction; thus they are at risk for acquiring a Chiari malformation. This type is difficult to diagnose and treat.[9]

Headache, neck pain, unsteady gait usually during childhood [5]
II Usually accompanied by a lumbar or lumbosacral myelomeningocele with tonsillar herniation below the foramen magnum.[5][10] As opposed to the less pronounced tonsillar herniation seen with Chiari I, there is a larger cerebellar vermian displacement. Low lying torcular herophili, tectal beaking, and hydrocephalus with consequent clival hypoplasia are classic anatomic associations.[11] The position of the torcular herophili is important for distinction from Dandy-Walker syndrome in which it is classically upturned. This is important because the hypoplastic cerebellum of Dandy-Walker may be difficult to distinguish from a Chiari malformation that has herniated or is ectopic on imaging. Colpocephaly may be seen due to the associated neural tube defect. Paralysis below the spinal defect [5]
III It is associated with an occipital encephalocele containing a variety of abnormal neuroectodermal tissues. Syringomyelia and tethered cord as well as hydrocephalus is also seen.[5][12] Causes abundant neurological deficits [5]
IV Characterized by a lack of cerebellar development in which the cerebellum and brain stem lie within the posterior fossa with no relation to the foramen magnum. Associated with hypoplasia.[5][13] Equivalent to primary cerebellar agenesis.[14] Not compatible with life [5]
Syringomyelia associated with Chiari malformation

Other conditions sometimes associated with Chiari malformation include hydrocephalus,[15] syringomyelia, spinal curvature, tethered spinal cord syndrome, and connective tissue disorders[8] such as Ehlers-Danlos syndrome and Marfan syndrome.

Chiari malformation is the most frequently used term for these types of malformations. The use of the term Arnold–Chiari malformation has fallen somewhat out of favor over time, although it is used to refer to the type II malformation. Current sources use "Chiari malformation" to describe four specific types of the condition, reserving the term "Arnold-Chiari" for type II only.[16] Some sources still use "Arnold-Chiari" for all four types.[17]

Chiari malformation or Arnold–Chiari malformation should not be confused with Budd-Chiari syndrome,[18] a hepatic condition also named for Hans Chiari.

Brain Sagging and Pseudo-Chiari Malformation. The displacement of the cerebellar tonsils into the spinal canal may be mistaken for a Chiari I malformation, and some patients with spontaneous intracranial hypotension have undergone decompressive posterior fossa surgery.[19]

Pathophysiology[edit]

The most widely accepted pathophysiological mechanism by which Chiari type I malformations occur is by a reduction or lack of development of the posterior fossa as a result of congenital or acquired disorders. Congenital causes include hydrocephalus, craniosynostosis (especially of the lambdoid suture), hyperostosis (such as craniometaphyseal dysplasia, osteopetrosis, erythroid hyperplasia), X-linked vitamin D-resistant rickets, and neurofibromatosis type I. Acquired disorders include space occupying lesions due to one of several potential causes ranging from brain tumors to hematomas.[20]

Symptoms[edit]

The blockage of cerebrospinal fluid (CSF) flow may also cause a syrinx to form, eventually leading to syringomyelia. Central cord symptoms such as hand weakness, dissociated sensory loss, and, in severe cases, paralysis may occur.[25]

Chiari malformation and syringomyelia[edit]

Syringomyelia is a chronic progressive degenerative disorder characterized by a fluid-filled cyst located in the spinal cord. Its symptoms include pain, weakness, numbness, and stiffness in the back, shoulders, arms or legs. Other symptoms include headaches, the inability to feel changes in the temperature, sweating, sexual dysfunction, and loss of bowel and bladder control. It is usually seen in the cervical region but can extend into the medulla oblongata and pons or it can reach downward into the thoracic or lumbar segments. Syringomyelia is often associated with Chiari malformation type I and is commonly seen between the C-4 and C-6 levels. The exact development of syringomyelia is unknown but many theories suggest that the herniated tonsils in Chiari malformation type I form a “plug” which does not allow an outlet of CSF from the brain to the spinal canal. Syringomyelia is present in 25% of patients with Chiari malformation.[26]

Diagnosis[edit]

Diagnosis is made through a combination of patient history, neurological examination, and magnetic resonance imaging (MRI).[27] Magnetic resonance is considered the best imaging modality for Chiari malformation. Computed tomography (CT) was the most utilized technique before MRI. It has never been completely reliable, as it can miss spinal cord cavitations. Neuroradiological investigation is used to first discount any intracranial condition that could be responsible for intracranial pressure and tonsillar herniation. Neuroradiological diagnosistics evaluate the severity of crowding of the neural structures within the posterior cranial fossa and their impact on the foramen magnum. Thin-section multiplanar CT with reformatted images is considered the best diagnostic approach for imaging of syringomyelia and prolapse of the vertebral column into the cranial cavity.[28]

The diagnosis of a Chiari II malformation can be made prenatally through ultrasound.[29][30]

Treatment[edit]

While there is no current cure, the treatments for Chiari malformation are surgery and management of symptoms, based on the occurrence of clinical symptoms rather than the radiological findings. The presence of a syrinx is known to give specific signs and symptoms that vary from dysesthetic sensations to algothermal dissociation to spasticity and paresis. These are important indications that decompressive surgery is needed for patients with Chiari Malformation Type II. Type II patients have severe brain stem damage and rapidly diminishing neurological response.[31][32]

Decompressive surgery[33] involves removing the lamina of the first and sometimes the second or third cervical vertebrae and part of the occipital bone of the skull to relieve pressure. The flow of spinal fluid may be accompanied by a shunt. Since this surgery usually involves the opening of the dura mater and the expansion of the space beneath, a dural graft is usually applied to cover the expanded posterior fossa.

A small number of neurological surgeons believe that detethering the spinal cord as an alternate approach relieves the compression of the brain against the skull opening (foramen magnum), obviating the need for decompression surgery and associated trauma. However, this approach is significantly less documented in the medical literature, with reports on only a handful of patients. It should be noted that the alternative spinal surgery is also not without risk.[34]

Complications of decompression surgery can arise. They include bleedings, damage to structures in the brain and spinal canal, meningitis, CSF fistulas, occipito-cervical instability and pseudomeningeocele. Rare post-operative complications include hydrocephalus and brain stem compression by retroflexion of odontoid. Also, an extended CVD created by a wide opening and big duroplasty can cause a cerebellar “slump”. This complication needs to be corrected by cranioplasty.[31]

In cases with brainstem dysfunction, anterior decompression may also be required. On April 24, 2009, a young patient with type 1 Chiari malformation was successfully treated with a minimally invasive endoscopic transnasal procedure followed by a posterior decompression and fusion by Richard Anderson and colleagues at the Columbia University Medical Center Department of Neurosurgery.[35] This technique was later published by Hankinson and colleagues in the Journal of Neurosurgery.[36]

Epidemiology[edit]

The prevalence of congenital Chiari I malformation, defined as tonsilar herniations of 3 to 5 mm or greater, had been estimated to be in the range of one per 1000 births, but may be much higher.[8][37] Women are three times more likely than men to have a congenital Chiari malformation.[38] Type II malformations are more prevalent in people of Celtic descent.[37] The incidence of symptomatic Chiari malformation is less, but unknown.

History[edit]

The history of Chiari malformation is described below and categorized by the year:

  • 1883: Cleland was the first to describe Chiari II or Arnold–Chiari malformation on his report of a child with spina bifida, hydrocephalus, and anatomical alterations of the cerebellum and brainstem.[39]
  • 1891: Hans Chiari, a Viennese pathologist, described the case of a 17 year old woman with elongation of the tonsils into cone shaped projections which accompany the medulla and are crammed into the spinal canal.[39]
  • 1907: Schwalbe and Gredig, pupils of Arnold, described four cases of meningomyelocele and alterations in the brainstem and cerebellum, and gave the name “Arnold-Chiari” to these malformations.[39]
  • 1932: Van Houweninge Graftdijk was the first to report the surgical treatment of Chiari malformations. All patients died from surgery or postoperative complications.[39]
  • 1935: Russell and Donald suggested that decompression of the spinal cord at the foramen magnum might facilitate the CSF circulation.[39]
  • 1940: Gustafson and Oldberg diagnosed Chiari malformation with syringomyelia.[39]
  • 1974: Bloch et al. described the tonsils position to be classified between 7 mm and 8 mm below cerebellum.[39]
  • 1985: Aboulezz used MRI for discovery of extension[39]

Society and culture[edit]

The condition was brought to the mainstream on the series CSI: Crime Scene Investigation in the tenth season episode "Internal Combustion" on February 4, 2010.[40] Chiari malformation was briefly mentioned on the medical drama House M.D. in the fifth season episode "House Divided"[41] and it was the focus of the sixth season episode "The Choice." It is also the focus of Private Practice Season 4 episode 4, where a pregnant woman is diagnosed with it. It was also mentioned in the medical drama A Gifted Man, in the first season episode "In Case of Separation Anxiety.".[42] Chairi malformation has also been featured in non-fiction TV shows. Season 5, Episode 2 of Extreme Makeover: Home Edition features a family where both mom and daughters have Chiari malformation. On the Discovery Health Channel's series Mystery Diagnosis, a young girl is diagnosed with Chiari malformation and Ehlers-Danlos syndrome in the first season episode "Blood and Fire".

Notable cases[edit]

References[edit]

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  3. ^ "Chiari malformation: Symptoms". Mayo Clinic. November 13, 2008. 
  4. ^ "Arnold Chiari Malformation". 
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  6. ^ Kojima A, Mayanagi K, Okui S (February 2009). "Progression of pre-existing Chiari type I malformation secondary to cerebellar hemorrhage: case report". Neurol. Med. Chir. (Tokyo) 49 (2): 90–2. doi:10.2176/nmc.49.90. PMID 19246872. [dead link]
  7. ^ O'Shaughnessy BA, Bendok BR, Parkinson RJ, et al. (January 2006). "Acquired Chiari malformation Type I associated with a supratentorial arteriovenous malformation. Case report and review of the literature". J. Neurosurg. 104 (1 Suppl): 28–32. doi:10.3171/ped.2006.104.1.28. PMID 16509477. 
  8. ^ a b c Milhorat TH, Bolognese PA, Nishikawa M, McDonnell NB, Francomano CA (December 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. 
  9. ^ "Dr. Bland Discusses Chiari & EDS 4(10)". Conquerchiari.org. 2006-11-20. Retrieved 2011-11-04. 
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  11. ^ "Cleveland Clinic Children's Hospital Pediatric Radiology Image Gallery". Cleveland Clinic. 2010. Archived from the original on 27 June 2010. Retrieved June 14, 2010. 
  12. ^ Arnold-Chiari Malformation at the US National Library of Medicine Medical Subject Headings (MeSH)
  13. ^ "Chiari Malformations - Department of Neurological Surgery". 
  14. ^ Yu, F.; Jiang, Q.-j.; Sun, X.-y.; Zhang, R.-w. (22 August 2014). "A new case of complete primary cerebellar agenesis: clinical and imaging findings in a living patient". Brain. doi:10.1093/brain/awu239. 
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  19. ^ "Spontaneous Spinal Cerebrospinal Fluid Leaks: Diagnosis". 
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  27. ^ http://www.chiariinstitute.com/Videos/index.html
  28. ^ Massimo Caldarelli, Concezio Di Rocco (2004). "Diagnosis of Chiari I malformation and related syringomyelia: radiological and neurophysiological studies". Childs Nerv Syst 20 (5): 332–335. doi:10.1007/s00381-003-0880-4. PMID 15034729. 
  29. ^ http://www.informaworld.com/smpp/95829683-10739206/content~db=all~content=a748966357
  30. ^ Li-Gang Cui, Ling Jiang, Hua-Bin Zhang, Bin Liu, Jin-Rui Wang, Jian-Wen Jiaa, Wen Chen (2011). "Monitoring of cerebrospinal fluid flow by intraoperative ultrasound in patients with Chiari I malformation". Clinical Neurology and Neurosurgery 113 (3): 173–176. doi:10.1016/j.clineuro.2010.10.011. PMID 21075511. 
  31. ^ a b Alessia Imperato, Vincenzo Seneca, Valentina Cioffi, Giuseppe Colella and Michelangelo Gangemi (2011). "Treatment of Chiari malformation: who, when and how". Neurological Sciences 32: 335–339. doi:10.1007/s10072-011-0709-y. 
  32. ^ J. Klekamp, U. Batzdorf, M. Samii and H. W. Bothe (1996). "The surgical treatment of Chiari I malformation". Acta Neurochirurgica 138 (7): 788–801. doi:10.1007/BF01411256. PMID 8869706. 
  33. ^ Guo F, Wang M, Long J, et al. (2007). "Surgical management of Chiari malformation: analysis of 128 cases". Pediatr Neurosurg 43 (5): 375–81. doi:10.1159/000106386. PMID 17786002. 
  34. ^ "Perioperative Mortality". 
  35. ^ "Boy's Brainstem Saved By A Nose". Columbia Medical Center Department of Neurological Surgery. Retrieved 2010-01-19. 
  36. ^ Todd C. Hankinson, Eli Grunstein, Paul Gardner, Theodore J. Spinks, and Richard C. E. Anderson (2010). "Transnasal odontoid resection followed by posterior decompression and occipitocervical fusion in children with Chiari malformation Type I and ventral brainstem compression". J Neurosurg Pediatrics 5 (6): 549–553. doi:10.3171/2010.2.PEDS09362. 
  37. ^ a b http://www.ninds.nih.gov/disorders/chiari/detail_chiari.htm
  38. ^ http://www.wichiaricenter.org/oth/Page.asp?PageID=OTH000006
  39. ^ a b c d e f g h Schijman (2004). "History, anatomic forms, and pathogenesis of Chiari malformations". Child's nervous system 20 (5): 323. doi:10.1007/s00381-003-0878-y. 
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  41. ^ "clinic_duty: House MD – 5.22 House Divided". Community.livejournal.com. Retrieved 2011-11-04. 
  42. ^ [2][dead link]
  43. ^ "Rosanne Cash recovering from brain surgery - Entertainment - Celebrities - TODAY.com". MSNBC. 2011-10-26. Retrieved 2011-11-04. 
  44. ^ "Bobby Jones Society | Chiari & Syringomyelia Foundation". Csfinfo.org. Retrieved 2011-11-04. 
  45. ^ http://www.chiariinstitute.com/testimonials/MIrwin.pdf
  46. ^ http://www.cnn.com/2014/01/15/health/human-factor-clukey/index.html

External links[edit]