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Aicardi Syndrome: more detail

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

lists with details

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/

Extractions: 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.
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

Extractions: 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?
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

Extractions: @import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: 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
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

Extractions: helpful? 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
Aicardi Syndrome
provides a summary, list of synonyms, and the major features.
http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome015.html

Extractions: 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.
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

Extractions: Subscribe now >> 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. 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?
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

Extractions: 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. Aicardisyndrome
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
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

Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease 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
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
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
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
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

Extractions: zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Rare / Orphan Diseases Types of Diseases Brain and Nervous System ... Rare cancers zau(256,152,145,'gob','http://z.about.com/5/ad/go.htm?gs='+gs,''); Is it a Rare Disease? Rare Diseases A - B Rare Diseases C - D Rare Diseases E - H ... Help zau(256,138,125,'el','http://z.about.com/0/ip/417/0.htm','');w(xb+xb); Subscribe to the About Rare / Orphan Diseases newsletter. zau(256,152,100,'hs','http://z.about.com/5/ad/hs.htm?zIhsid=00',''); Search Rare / Orphan Diseases Email to a friend Print this page Stay Current Subscribe to the About Rare / Orphan Diseases newsletter. Suggested Reading Internet links on Aicardi syndrome Elsewhere on the Web Aicardi Syndrome Foundation Most Popular The Elephant Man's Bones Reveal Mystery ALD and Lorenzo's Oil Prune Belly (Eagle-Barrett) Syndrome Progeria Syndromes ... Mad Cow Disease and Humans What's Hot Christmas Disease Graves' Disease and Research Dystonia and Botox Injections Tourette Syndrome ... Ferraro Fighting Multiple Myeloma From Mary Kugler Sign up for my Newsletter 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
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

Extractions: zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Rare / Orphan Diseases Home Essentials ... Rare cancers zau(256,152,145,'gob','http://z.about.com/5/ad/go.htm?gs='+gs,''); Is it a Rare Disease? Rare Diseases A - B Rare Diseases C - D Rare Diseases E - H ... Help zau(256,138,125,'el','http://z.about.com/0/ip/417/0.htm','');w(xb+xb); Subscribe to the About Rare / Orphan Diseases newsletter. zau(256,152,100,'hs','http://z.about.com/5/ad/hs.htm?zIhsid=00',''); Search Rare / Orphan Diseases Rare/Orphan Diseases Blog Main Aicardi Syndrome
Aicardi Syndrome - Information / Diagnosis / Treatment / Prevention
home rare disorders aicardi syndrome aicardi syndrome. Medline Plus aicardi syndrome Definition, symptoms, signs and treatments.
http://www.healthcyclopedia.com/rare-disorders/aicardi-syndrome.html
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

Extractions: AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia
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

Extractions: AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia 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
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
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

Extractions: Main Diseases and Conditions 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.
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

Extractions: 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: 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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