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         Aicardi Syndrome:     more detail
  1. Aicardi Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by ICON Health Publications, 2004-08-23
  2. The Official Parent's Sourcebook on Aicardi Syndrome: A Directory for the Internet Age by Icon Health Publications, 2003-11
  3. Aicardi syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Paul Johnson, 2005

1. Aicardi Syndrome Foundation
Welcome to the aicardi syndrome website. We are glad you have found us! Our aicardi syndrome Family Conference is coming up this summer!
http://www.aicardisyndrome.org/
Welcome What is Aicardi Syndrome? Support and Contacts Information from Parents ... Resources Welcome to the Aicardi Syndrome website. We are glad you have found us! We hope that this site can provide information and comfort to families and friends of children diagnosed with Aicardi Syndrome. If you are here because of a newly diagnosed child, please let us know who you are. Visit our support and contacts page to sign up for our newsletter , join our email support group , and contact your regional coordinator . These resources can hopefully answer some of the questions you may have, as well as provide support. Our Aicardi Syndrome Family Conference is coming up this summer! We hope you will join us in Louisville, Kentucky during the weekend of July 9-11, 2004. Follow this link for more information.
What is new on the website? Project Linus added April 7, 2004 Spaghetti Dinner / Silent Auction added April 7, 2004 ... Audrey Hawrylew updated May 1, 2004 Danielle LeCompte added January 31, 2004
A New Medical Survey We are in the process of compiling the results of the medical survey sent out in the summer of 2003. This is taking longer than we had anticipated due to the great response from so many of you. We hope to have the results ready this summer ....

2. NINDS Aicardi Syndrome Information Page
Information sheet compiled by National Institute of Neurological Disorders and Stroke with general information, and a list of organisations.
http://www.ninds.nih.gov/health_and_medical/disorders/aicardi.htm
National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Browse all disorders Browse all health
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Table of Contents (click to jump to sections) What is Aicardi Syndrome?
Is there any treatment?

What is the prognosis?
What research is being done? ... Organizations What is Aicardi Syndrome? Aicardi Syndrome is a rare genetic disorder characterized by the partial or complete absence of the structure that links the two hemispheres of the brain, the corpus callosum . The disorder affects only girls. Onset of Aicardi Syndrome generally begins between the ages of 3 and 5 months with infantile spasms, a type of childhood seizure. Symptoms include seizures, mental retardation and lesions on the retina of the eye that are specific to the disorder. Aicardi Syndrome may be associated with other brain defects such as a smaller than average brain and cavities or gaps in the brain filled with cerebrospinal fluid. Is there any treatment?

3. MedlinePlus Medical Encyclopedia: Aicardi Syndrome
aicardi syndrome is a rare genetic disorder characterized by infantile spasms (jerking), absence of the corpus callosum The cause of aicardi syndrome is unknown at this time, but is
http://www.nlm.nih.gov/medlineplus/ency/article/001664.htm
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Aicardi syndrome
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Corpus callosum of the brain Definition Return to top Aicardi syndrome is a rare genetic disorder characterized by infantile spasms (jerking), absence of the corpus callosum (the connection between the two hemispheres of the brain), mental retardation, and lesions of the retina of the eye or optic nerve. Causes, incidence, and risk factors Return to top The cause of Aicardi syndrome is unknown at this time, but is presumed to be a genetic disorder carried on the X-chromosome in some cases and a random, sporadic mutation in others. There are less than 500 cases of Aicardi worldwide. Symptoms Return to top Children are most commonly diagnosed with Aicardi Syndrome between the ages of three months and five months, if they meet the following criteria:
  • Female sex (or XXY genotype male) Retinal lacunae lesions of the retina Seizures typically beginning as infantile spasms, a type of epileptic disorder in infants

4. AICARDI SYNDROME: Contact A Family - For Families With Disabled Children: Inform
General information, including associated conditions, plus inheritance patterns.
http://www.cafamily.org.uk/Direct/a28.html
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yes no Aicardi syndrome is a very rare neurological condition due to a congenital abnormality of brain development. The characteristic features consist of under development or absence of the development (agenesis) of a brain structure known as the corpus callosum, a form of epilepsy (infantile spasms) and an abnormality to the structure and appearance of the retina of the eyes. It is an example of one of the syndromic causes of agenesisof the corpus callosum . In Aicardi syndrome, in addition to the structural abnormality of the corpus callosum, other structures within the brain can also be abnormal. This can result in a variety of types of brain cyst and/or abnormal structure within areas of both grey or white matter of the brain. Learning Disability is a constant feature and varies from moderate to the more commonly seen severe picture. The associated epilepsy classically takes the form of 'infantile spasms' or is 'spasm-like.' Other types of epileptic fit may be seen. The epilepsy usually occurs by two months of age, it is often difficult and remains difficult to control. Investigating it with electroencephalogramstudies may reveal a pattern characteristic of these spasms (hypsarrhythmia). This form of epilepsy is sometimes referred to as

5. Aicardi Syndrome
provides a summary, list of synonyms, and the major features.
http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome015.html
Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes
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Syndrome Aicardi syndrome Synonyms chorioretinal anomalies-corpus callosum agenesis-infantile spasms syndrome corpus callosum agenesis-chorioretinal abnormality syndrome corpus callosum agenesis-chorioretinopathy-infantile spasms syndrome corpus callosum agenesis-ocular anomalies-salaam seizures syndrome Summary A syndrome of infantile spasms, typical bowing of the head (salaam seizures), chorioretinopathy, retarded mental and motor development, agenesis of the corpus callosum, and costovertebral anomalies. Major Features Head and neck: Skull abnormalities include frontal bossing, occipital flattening, and plagiocephaly. Eyes: Chorioretinal lacunae and, less frequently, unilateral microphthalmia, eyelid twitching, optic nerve coloboma, nystagmus, and retinal detachment. Mouth and oral structures: Occasional cleft lip and palate. Thorax: Absent or abnormal ribs. Extremities: Unilateral hip dysplasia may occur. Spine: Vertebral abnormalities include hemivertebrae and scoliosis. Muscles: Hypotonia.

6. Aicardi Syndrome
aicardi syndrome is a rare disorder characterized by the agenesis of the corpus callosum, infantile spasms, mental retardation, and lacunae of the retina.
http://healthlink.mcw.edu/article/921381662.html
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Aicardi Syndrome
Aicardi syndrome is a rare disorder characterized by the partial or complete agenesis (absence) of the corpus callosum (the structure that links the 2 hemispheres of the brain), infantile spasms (a form of childhood seizure), mental retardation, and an ocular (eye) abnormality called lacunae (lesions) of the retina of the eye. Aicardi syndrome may be associated with other brain defects such as microcephaly (small brain) or porencephalic cysts (cerebrospinal fluid-filled cavities or gaps in the brain). Onset of Aicardi syndrome generally begins between the ages of 3 and 5 months. The disorder affects only females.
Is there any treatment?
There is no cure for Aicardi syndrome nor is there a standard course of treatment. Treatment, which is symptomatic, generally involves management of seizures and intervention programs for mental retardation.
What is the prognosis?

7. Aicardi Syndrome / The Family Village Library
Search Google for "aicardi syndrome" Who to Contact The aicardi syndrome Newsletter provides information and support to families who have a child with aicardi syndrome and
http://www.familyvillage.wisc.edu/lib_aica.htm
Aicardi Syndrome
Who to Contact
Where to Go to Chat with Others

Learn More About It

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Who to Contact
Al and Cindy Meo
Aicardi Syndrome Foundation
P.O. Box 3202
St. Charles, IL 60174
E-mail: aicardi@aol.com
Website: http://www.aicardisyndrome.org/
This Foundation provides a chat room and information network on Aicardi Syndrome for families and professionals.
Aicardi Syndrome Newsletter, Inc.
Denise Parsons 1510 Polo Fields Court Louisville, Kentucky 40245 U.S.A. E-mail: AICNews@aol.com
The Aicardi Syndrome Newsletter provides information and support to families who have a child with Aicardi syndrome and acts as an information gathering and sharing resource for professional and health care personnel. The Newsletter provides a network of information, communication and support to families, strengthens and empowers families in becoming advocates for their child, and gathers current research articles and findings regarding Aicardi syndrome and other related topics for distribution to member families.
Where to Go to Chat with Others

8. Aicardi Syndrome
aicardi syndrome. aicardi syndrome Newsletter, Inc. 5115 Troy Urbana Rd. Casstown, OH 453129711. Phone (513) 339-6033 Contact Denise M Raynor. Fax (513) 339-6033. aicardi syndrome Awareness and
http://www.kumc.edu/gec/support/aicardi.html
Aicardi syndrome
Aicardi Syndrome Newsletter, Inc.
5115 Troy Urbana Rd
Casstown, OH 45312-9711
Phone: (513) 339-6033 Contact: Denise M Raynor
Fax: (513) 339-6033
Aicardi Syndrome Awareness and Support Group
29 Delavan Ave.
Toronto, Ontario, Canada, M5P 1T2
Phone: (416) 481-4095
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9. EMedicine - Aicardi Syndrome : Article By Marc P Difazio, MD
aicardi syndrome In 1965, a French neurologist, Dr Jean Dennis Aicardi, described 8 children with infantile spasm-in-flexion, agenesis of the corpus callosum
http://www.emedicine.com/ped/topic58.htm
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Aicardi Syndrome
Last Updated: July 10, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: callosal agenesis, ocular abnormalities, syndrome of spasm-in-flexion, Aicardi's syndrome AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography
Author: Marc P Difazio, MD , Chief, Child and Adolescent Neurology Clinic, Assistant Professor, Department of Neurology, Section of Child and Adolescent Neurology, Walter Reed Army Medical Center Coauthor(s): Ronald G Davis, MD , Assistant Professor, Department of Neurology, Division of Child and Adolescent Neurology, Children's Hospital of Boston and Harvard University Medical School Marc P Difazio, MD, is a member of the following medical societies: Alpha Omega Alpha American Academy of Neurology , and Child Neurology Society Editor(s): James Bowman, MD

10. Aicardi Syndrome
Penn State Children's Hospital provides world class care and services to patients. The exact cause of aicardi syndrome is not currently known Researchers have connected aicardi syndrome to the X chromosome because it occurs only in females
http://www.hmc.psu.edu/childrens/healthinfo/a/aicardi.htm

11. Aicardi Syndrome
aicardi syndrome. aicardi syndrome Foundation. Short description of cell lines. Pathology Aicardi Support Groups. aicardi syndrome. aicardi syndrome. Reciprocal 1;17 translocation in
http://www.bdid.com/aicardi.htm

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12. Aicardi Syndrome Foundation
By the aicardi syndrome Newsletter, A publication of the aicardi syndrome Foundation, Inc. Update on aicardi syndrome Research. Ignatia B. Van den Veyver, MD.
http://www.aicardisyndrome.org/index.php?pname=whatis

13. Aicardi Syndrome
aicardi syndrome. Neurological disorder still poorly understood. aicardi syndrome, a neurological disorder, was identified more than 30 years ago.
http://rarediseases.about.com/cs/aicardisyndrome/a/112103.htm
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Neurological disorder still poorly understood
Aicardi syndrome, a neurological disorder, was identified more than 30 years ago. Yet since then not much knowledge has been gained about what exactly causes the syndrome. Researchers believe it is caused by the defect of a gene or genes on the X (female) chromosome, since Aicardi syndrome affects only girls (or boys with an extra X chromosome, called

14. Aicardi Syndrome
aicardi syndrome. Rare/Orphan Diseases Blog. aicardi syndrome This disorder affects the brain and the eyes, and results in physical malformations of both.
http://rarediseases.about.com/b/a/044804.htm
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November 21, 2003
Aicardi Syndrome
This disorder affects the brain and the eyes, and results in physical malformations of both. No one knows exactly what causes it, although it seems to be genetic, and there is no cure or specific treatment for it.
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15. Aicardi Syndrome - Information / Diagnosis / Treatment / Prevention
home rare disorders aicardi syndrome aicardi syndrome. Medline Plus aicardi syndrome Definition, symptoms, signs and treatments.
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Related Topics: Chronic Illness Genetic Disorders Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "Aicardi's syndrome" Health News: Search millions of published articles for news on Aicardi Syndrome Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: Aicardi Syndrome Foundation Information about the disease, a medical survey, where to get help, publications and a chat room for support. Contact a Family: Aicardi Syndrome General information, including associated conditions, plus inheritance patterns.

16. AllRefer Health - Aicardi Syndrome
aicardi syndrome information center covers causes, prevention, symptoms, diagnosis, treatment, incidence, risk factors, signs, tests, support groups
http://health.allrefer.com/health/aicardi-syndrome-info.html
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Definition Aicardi syndrome is a rare genetic disorder characterized by infantile spasms (jerking), absence of the corpus callosum (the connection between the two hemispheres of the brain), mental retardation, and lesions of the retina of the eye or optic nerve.
Corpus Callosum of the Brain The cause of Aicardi syndrome is unknown at this time, but is presumed to be a genetic disorder carried on the X-chromosome in some cases and a random, sporadic mutation in others. There are less than 500 cases of Aicardi worldwide.
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... Calling Your Health Care Provider Topics that might be of interest to you Cranial CT Scan EEG MRI Other Topics Seizures Review Date : 7/29/2002 Reviewed By : Elizabeth Hait, M.D., Department of Pediatrics, Rainbow Babies and Children's Hospital, Case Western Reserve University, Cleveland, OH. Review provided by VeriMed Healthcare Network.

17. AllRefer Health - Aicardi Syndrome Support Groups
Groups for aicardi syndrome. aicardi syndrome. See all Pictures Images aicardi syndrome Support Groups. aicardi syndrome Newsletter Established
http://health.allrefer.com/health/aicardi-syndrome-support.html
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Aicardi Syndrome Support Groups Aicardi Syndrome Newsletter
Established in 1984 by a mother of a daughter with Aicardi Syndrome in order to provide information and support for families due to the extremely rare nature of this disorder. Publications include a bimonthly newsletter brief, and two to three large digests annually which are distributed to member families worldwide. The newsletter has also published yearbooks, family directories, and two medical-model surveys of affected daughters. Contact: Denise Parsons
1510 Polo Fields Court
Louisville, KY 40245

18. Introduction Aicardi Syndrome - WrongDiagnosis.com
Introduction to aicardi syndrome as a medical condition including symptoms, diagnosis, misdiagnosis, treatment, prevention, and prognosis.
http://www.wrongdiagnosis.com/a/aicardi_syndrome/intro.htm

19. Aicardi Syndrome - Keep Kids Healthy Conditions
Main Diseases and Conditions aicardi syndrome. aicardi syndrome. aicardi syndrome abnormalities. Resource List for aicardi syndrome Aicardi
http://www.keepkidshealthy.com/welcome/conditions/aicardi.html

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Aicardi Syndrome
Aicardi syndrome is a rare disorder that affects females, and whose features include partial or compete agenesis of the corpus collosum (the structure that connects to the two halves of the brain), seizures that are difficult to control with antiseizure medications, mental retardation and abnormalities of the retina in the eye (especially colobomas The kind of seizures that infants with Aicardi syndrome usually have are infantile spasms . These seizures consist of symmetric and brief clusters of spasms of the muscles of the neck, trunk or limbs. An EEG can help to diagnose if your child is having infantile spasms, because it will show a very characteristic, abnormal pattern called hypsarrhythmia. Treatment of infantile spasms can be very difficult and your child may require treatment with many different types of medications, including clonazepam, valproate, pyridoxine, and hormonal therapy with adrenocorticotropic hormone (ACTH) or corticosteroids. Agenesis of the corpus collosum can occur by itself, without seizures, mental retardation or other medical problems. These children will usually be normal without other brain or developmental abnormalities.

20. Aicardi's Syndrome
Medical Information On Aicardi s Syndrome. In aicardi syndrome several parts of the eye and brain do not grow fully and some parts do not grow at all.
http://www.ssc.mhie.ac.uk/eyeconds/Aicard.htm
Scottish Sensory Centre Medical Information On Aicardi's Syndrome For whom is this information intended? The information contained in this document is intended for use primarily by parents, other members of the family and older children with visual impairment. The information will also be of use to interested health professionals, carers and teachers. The purpose of each information document The purpose of the information is to explain:
  • The way the eyes and brain normally work to make 'vision' The reason why vision may become impaired by a specific condition The cause of the condition The effects of the condition on the child's vision How the condition is diagnosed What can be done to help
This document is written with the minimum use of medical terms and jargon. It is impossible to avoid all medical terms but where we have used them we have attempted to explain them as clearly as we can. Although the information is intended to describe most aspects of the condition each child is different and there will always be exceptions to the rule. As far as we can determine these pages are true and accurate and have been written in good faith. Inevitably there will be some mistakes. We apologise for this. What this information is not for This document is not a substitute for a consultation with a Health Professional and should not to be used as a means of diagnosing a condition.

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