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Arnold-Chiari Malformation

Important
It is possible that the main title of the report Arnold-Chiari Malformation is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Synonyms

* Arnold-Chiari Malformation
* Cerebellomedullary Malformation Syndrome
* ACM

Disorder Subdivisions

* Chiari Type I (Chiari Malformation I)
* Chiari Type II (Chiari Malformation II)

Related Disorders List

Information on the following diseases can be found in the Related Disorders section of this report:

* Hydrocephalus
* Spina Bifida
* Multiple Sclerosis
* Dandy-Walker Syndrome
* Syringobulbia
* Syringomyelia

General Discussion

Arnold-Chiari malformation (ACM) is a rare malformation of the brain that is present at birth. Abnormalities at the base of the brain most frequently involve the displacement of the rearmost part of the brain (cerebellum) through the opening in the back of the skull (foramen magnum). A part of the cerebellum enters into the space at which the spinal cord enters the skull. Thus, a part of the brain typically reaches the spinal canal (upper cervical area) and interferes with the flow of cerebral spinal fluid (CSF) to and from the brain. It is this constraint of the flow of CSF that causes most of the damage rather than the tissue compression.

A developmental defect of the central nervous system is the proximate cause in some infants with Arnold-Chiari malformation. A sac (myelomeningocele or herniated pouch) may bulge through an abnormal opening in the spinal column and may contain portions of the spinal cord, spinal membranes, and/or cerebrospinal fluid. Some infants may also have abnormal accumulations of cerebrospinal fluid in the skull (hydrocephalus). Other malformations of the brain and spinal cord (i.e., spina bifida) may also occur.
Some physicians prefer to subdivide ACM into Chiari type I, Chiari type II and Chiari type III. Chiari type I includes ACM 1 and ACM 2 and Chiari type III is also known as ACM 3.

ACM 1: Protrusion of the brain tissue below the opening of the base of the skull and may include an abnormal fluid blister-like cavity (syringomyelia) and larger than normal accumulations of CSF in the skull (hydrocephalus).

ACM 2: Protrusion of both the cerebellar brain tissue and the brain stem through the hole in the skull. This form of the malformation may be accompanied by syringomyelia and hydrocephalus, but, in addition it is often associated with spina bifida. (Spina bifida is a congenital disorder in which the vertebrae fail to close to completely encircle the spinal cord.)

ACM 3 : Includes all of the characteristics listed in 1 and 2 plus a bulge of the spinal cord caused by a sac or balloon-like abnormality (myelomeningocele) that may contain CSF, and/or tissue from the spinal cord membranes.
.
Symptoms

ACM presents with a wide variety of symptoms. The World Arnold Chiari Malformation Association surveyed a sample of their members and found a remarkable range of symptoms reported. Over 80% of those responding reported headache (90%), fatigue (90%), loss of vision (81%) and tingling extremities. Nausea was reported by 52% of respondents while 55% reported difficulty in swallowing (dysphagia).

Adults and adolescents with Arnold-Chiari malformation who previously were without symptoms, may exhibit signs of progressive brain impairment as they mature including involuntary, rapid, downward eye movements (downbeat nystagmus). Other symptoms may include dizziness (42%), muscle weakness in the legs (71%), and impaired ability to coordinate movement (ataxia) (74%).

The same survey suggested that the average age of onset of symptoms of the disorder was about 29 (range: 12-66); the average time between onset of symptoms and diagnosis was about 7 years (range:0-33); the average size of the opening (herniation) was about 12mm (range 5-30mm).
.
Causes

The exact cause of Arnold-Chiari malformation is not known. This malformation and the associated central nervous system defects are extremely complex. Arnold-Chiari malformation appears to be due to a developmental failure of the brain stem and upper spine (cervical region) with no known cause. Some investigators associate the malformation with an abnormally small posterior fossa, which is the space in which the cerebellum resides.
Affected Populations

In the course of studies of the genetics of neural tube disorders, researchers at Duke University were able to make estimates of prevalence of ACM in the American populations. Their conclusions suggest that there may be between 100,000 and 150,000 Chiari type I cases and between 30,000 and 40,000 Chiari type III cases.

ACM is a rare brain malformation that affects males and females in equal numbers. In the majority of cases, symptoms present during infancy, but they may also delay until adolescence or adulthood.
.
Related Disorders

Symptoms of the following disorders can be similar to those of Arnold-Chiari malformation. Comparisons may be useful for a differential diagnosis:

Hydrocephalus is a condition characterized by abnormally wide (dilated) spaces in the brain (ventricles) that inhibit the normal flow of cerebrospinal fluid (CSF). The fluid accumulates in the skull and puts abnormal pressure on the brain. The characteristics of Hydrocephalus may include an abnormally large head, a thin transparent scalp, and a bulging forehead with prominent spaces between the bones of the skull (fontanelles). Symptoms may include convulsions, abnormal reflexes, a slowed heartbeat, headaches, and vomiting. (For more information on this disorder, choose "Hydrocephalus" as your search term in the Rare Disease Database.)

Spina bifida is a congenital defect characterized by incomplete closure of the neural tube. Part of the contents of the spinal canal may protrude through the opening. Children with spina bifida have a wide variety of symptoms and physical findings based on the severity of the defect. Symptoms may include muscle weakness, kidney abnormalities, and abnormal skin sensations. Some children who have spina bifida and a meningocele experience hydrocephalus. (For more information on this disorder, choose Spina Bifida" as your search term in the Rare Disease Database.)

Multiple sclerosis is a chronic disorder of the central nervous system that causes the destruction of the myelin covering on nerve fibers. Symptoms vary greatly and may include double vision, blind spots, and rapid involuntary movements of the eyes. Speech impairment, numbness, and/or tingling sensations in the arms and legs, and impaired ability to coordinate movement may also occur. As the disease progresses, there may be varying degrees of paralysis. (For more information on this disorder, choose "Multiple Sclerosis" as your search term in the Rare Disease Database.)

Dandy Walker syndrome is a rare inherited developmental malformation of the brain characterized by congenital hydrocephalus. Hydrocephalus occurs as a result of an obstruction of the openings at the base of the skull (foramina of Magendie and Luschka). (For more information on this disorder, choose "Dandy-Walker" as your search term in the Rare Disease Database.)

Syringobulbia is a rare, slowly progressive neurological disorder characterized by the presence of a cavity (syrinx) in the brain stem. This disorder is often associated with craniovertebral abnormalities including Arnold-Chiari malformations. Symptoms may include paralysis of the vocal cords, weakness of the tongue, joint pain, dizziness, and involuntary eye movements. (For more information on this disorder, choose "Syringobulbia" as your search term in the Rare Disease Database.)

Syringomyelia is a rare, slowly progressive neurological disorder characterized by the presence of a cavity (syrinx) in the spinal cord. The syrinx may extend up into the brain stem or as far down as the lumbar region of the back. Syringomyelia is often associated with craniovertebral abnormalities such as Arnold-Chiari malformation. (For more information on this disorder, choose "Syringomyelia" as your search term in the Rare Disease Database. Children with Arnold-Chiari malformation may have surgery to repair an existing meningocele. Hydrocephalus may be treated surgically (ventricular shunting) to relieve increased pressure on the brain. Infants with very severe malformations caused by Arnold-Chiari Malformation may have life-threatening complications.

The symptoms of Arnold-Chiari malformation are also similar to those that occur in individuals with tumors of the brain further supporting the importance of a thorough neurological examination including MRI studies.
.
Standard Therapies

Children with Arnold-Chiari malformation may have surgery to repair an existing meningocele. Hydrocephalus may be treated surgically (ventricular shunting) to relieve increased pressure on the brain. Infants with very severe malformations caused by ACM may have life-threatening complications.

Some adults with ACM may benefit from surgery to enlarge the opening in the back of the skull (foramen magnum). This can relieve intracranial pressure in the area (laminotomy of the cervicomedullary junction).

Genetic counseling will be of benefit for individuals with Arnold-Chiari malformation and their families. Other treatment is symptomatic and supportive.
.
Investigational Therapies

The National Institute of Neurological Disorders and Stroke (NINDS) is currently recruiting patients for each of two clinical trials involving ACM. These are:

1. A clinical trial designed to establish the physiology of syringomyelia.

The purpose of the study is to establish the mechanism of development and progression of syringomyelia which usually accompanies anatomic abnormalities at the junction of the cerebellar tonsils involved in ACM act as a piston creating pressure waves of the CSG which waves cause the enlargement of the abnormal cavity in the spinal cord (syrinx).

The result of this trial should help to determine optimal treatment of syringomyelia associated with ACM. NINDS plans to enroll 100 patients.

Study ID Numbers are: 920226;92-N0226

For further information contact:

Patient Recruitment and Public Liaison Office
National Institute of Neurological Disorders and Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
Tel: 1-866-411-1010
E-mail prpl@mail.cc.nih.gov

2. NINDS is also sponsoring a study designed to improve the understanding of the genetics of ACM. The study will establish the family pedigree (genetic history) and undertake genetic linkage analysis to determine the gene loci associated with ACM.

NINDS plans to recruit about 200 families in the USA and Russia.

Study ID Numbers are: 000089; 00-N-0089

For further information contact:

Patient Recruitment and Public Liaison Office
National Institute of Neurological Disorders and Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 202892
Tel: 1-866-411-1010
E-mail: prpl@mail.cc.nih.gov
References

TEXTBOOKS
Berkow R., ed. The Manual-Home Edition. Whitehouse Station, NJ: Merck Research Laboratories; 1997:1236.

Menkes JH., au., Pine JW, et al., eds. Textbook for Child Neurology, 5th ed. Baltimore, MD: Williams & Wikins; 1995:251,253.

Adams, RD, et al., eds. Principles of Neurology. 6th ed. New York, NY: McGraw Hill, Companies; 1997:1006-07.

REVIEW ARTICLES
Bergsneider M. Evolving concepts of cerebrospinal fluid physiology. Neurosurg Clin N Am 2001;12:631-38.

Haberle J, Hulskamp G, Harms et al. Cervical encephalocele in a newborn-Chiari III malformation. Case report and review of literature. Child Nerv Syst 2001;17:373-75.

Genitori L, Peretta P, Nurisso C, et al. Chiari type I anomalies in children and adolescents: minimally invasive management in a series of 53 cases. Childs Nerv Syst. 2000;16:707-18.

O’reilly GC, Shields LE. Karyotyping for isolated neural tube defects. A report of two cases. J Reprod Med 2000;45:950-52.

JOURNAL ARTICLES
Mesiwala AH, Shaffrey CI, Gruss JS, et al. Atypical hemifacial microsomia associated with Chiari Malformation and syrinx: further evidence indicating that Chiari I malformation is a disorder of the paraxial mesoderm. Case report and review of the literature. J Neurosurg 2001;95:1034-39.

Galarza M, Gravori T, Lazareff JA. Acute spinal cord swelling in a child with Chirai II malformation. Pediatr Neurosurg. 2001;35:145-48.

Narayan P, Mapstone TB, Tubbs RS, et al. Clinical significance of cervicomedullary deformity in Chiari I malformation. Pediatr Neurosurg. 2001;35:140-44.

Mobbs R, Teo C. Endoscopic assisted posterior fossa decompression. J Clin Neurosci. 2001;8:343-44.

Strayer A. Chiari I Malformation: clinical presentation and management. J Neurosci Nurs. 2001;33:90-96,104.

Speer MC, George TM, Enterling DS, et al. A genetic hypothesis for Chiari I malformation with and without syringomyelia. Neurosurg Focus. 2000;8.

Ergun R, Akdemir G, Gezici AR, et al. Surgical management of syringomyelia-Chiari complex. Eur Spine J. 200;9:553-57,558.

Haroun RI, Guanieri M, Meadow JJ, et al. Current opinions for treatment of syringomyelia and Chiari malformations: survey of the Pediatric Section of the American association of Neurological Surgeons. Pediatr Neurosurg. 2000;33:311-17.

Speer M. The prevalence of SM in the US. American Syringomyelia Alliance of Project Inc. nd. 2pp. www.asap4sm.com/docscorner/index.html
Resources

American Syringomyelia Alliance Project, Inc.
P.O. Box 1586
Longview, TX 75606-1586
USA
Tel: 9032367079
Fax: 9037577456
Tel: 8002727282
Email: info@asap.org
Internet: http://www.asap.org

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
TDD: (914)997-4764
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

Hydrocephalus Association
870 Market Street
Suite 705
San Francisco, CA 94102
USA
Tel: 4157327040
Fax: 4157327044
Tel: 8885983789
Email: info@hydroassoc.org
Internet: http://www.hydroassoc.org

NIH/NINDS Brain Resources and Information Network
PO Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Internet: http://www.ninds.nih.gov/

Canadian Syringomyelia Network
69 Penny Crescent
Markham
Ontario, L3P 5X7
Canada
Tel: 9054718278
Fax: 9059444844
Email: barb@csn.ca
Internet: http://www.csn.ca

Hydrocephalus Support Group, Inc.
P.O. Box 4236
Chesterfield, MO 63006-4236
USA
Tel: 6365328228
Fax: 3149954108
Email: hydrobuff@earthlink.net

Birth Defect Research for Children, Inc.
930 Woodcock Rd
Suite 225
Orlando, FL 32803
USA
Tel: 4078950802
Fax: 4078950824
Email: staff@birthdefects.org
Internet: http://www.birthdefects.org

World Arnold Chiari Malformation Association (WACMA)

Internet: http://www.pressenter.com/~wacma/

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 11/20/2002
Copyright 1986, 1995, 2002 National Organization for Rare Disorders, Inc.

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