81. Aicardi Syndrome - SWMC Serving Vancouver Washington Portland Oregon aicardi syndrome Online Medical Encyclopedia courtesy of Southwest Washington Medical Center, a Top 100 Hosptital award winner locacted in Vancouver, http://www.swmedicalcenter.com/117167.cfm

@import url(default.css); Health Information Manager Back to Health Library Print This Page Email to a Friend Corpus callosum of the brain Aicardi syndrome 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. Causes, incidence, and risk factors: 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: 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 Absence of the corpus callosum (complete or partial) The classic criteria remain the cornerstone of diagnosis in most patients. However, in rare cases, one of the features, especially lack of development of the corpus callosum, may be missing. The diagnosis can probably be made in such cases if two or more of the criteria below are present:

82. Aicardi Syndrome (AIC) - Patient UK aicardi syndrome (AIC) Patient UK. A directory of UK health, disease, illness and related medical websites that provide patient information. http://www.patient.co.uk/showdoc/40001717/

PatientPlus articles are written for doctors and so the language can be technical. However, some people find that they add depth to the articles found in the other sections of this website which are written for non-medical people. Aicardi syndrome (AIC) This is a rare genetic condition characterised by complete or partial absence of the corpus callosum (the central part of the brain that connects the right and left sides.) There are other related neurological features. Epidemiology Prevalence There are probably between 300 and 500 cases worldwide. It has been reported in just one of two homozygous twins , cases occur as spontaneous mutations - does not tend to run in families. It affects girls almost exclusively. The few males that demonstrate the disease have Klinefelter’s syndrome (47XXY). The lesion has been gene mapped to the X chromosome (X linked dominant) and is lethal to the male fetus who has no second X chromosome, but females or Klinefelter's syndromes may survive on the basis of the normal other X chromosome. Presentation The disease is usually identified between 3 and 5 months old. Most had normal births and seemed to be developing normally until they had infantile spasms.

83. Qango : Health: Diseases And Conditions: A: Aicardi Syndrome aicardi syndrome, all of Qango only this category, Options Help Home Health Diseases and Conditions A aicardi syndrome, Suggest a Site http://www.qango.com/dir/Health/Diseases_and_Conditions/A/Aicardi_Syndrome/

Chat Forums Free Email Personals Classifieds ... Help Qango Directory Aicardi Syndrome all of Qango only this category Options Help Home Health ... A > Aicardi Syndrome Suggest a Site Health, etc If you would like to suggest a site for this category please click here Home Health Diseases and Conditions ... A > Aicardi Syndrome Suggest a Site Home Suggest a Site Search ... Login

84. Resource Library Find Information On Aicardi Syndrome At MerckSource Find information on aicardi syndrome at MerckSource. Learn more about aicardi syndrome, aicardi syndrome is a rare genetic disorder characterized by http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns

85. ScienceDaily Browse Topics Health/Conditions_and_Diseases NINDS aicardi syndrome Information sheet compiled by National Institute of National Library of Medicine aicardi syndrome - provides a summary, http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Rare_Disord

86. ScienceDaily Used Aicardi Syndrome - A Medical Dictionary Buy aicardi syndrome A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References Used cheap. http://www.sciencedaily.com/cgi-bin/apf4/amazon_products_feed.cgi?myOperation=Us

87. Entrez PubMed aicardi syndrome affects only females and has been hypothesized to be an Xlinked dominant male-lethal disorder. Because no familial cases can be studied http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

88. Entrez PubMed A 5year-old girl with aicardi syndrome, choroid plexus papilloma and The increased frequency of tumors in aicardi syndrome should be kept in mind when http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=7

89. Aicardi Syndrome Synonyms, Eastern Carolina aicardi syndrome Synonyms University Health Systems of Eastern Carolina serves tarboro, ahoskie, edento, winsor, maxhead, dear county, outebanks counties http://www.uhseast.com/111933.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Information on diseases and health concerns, including symptoms, treatment options, and prevention. Aicardi Syndrome Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report Important It is possible that the main title of the report Aicardi Syndrome 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 Agenesis of Corpus Callosum-Chorioretinitis Abnormality Agenesis of Corpus Callosum-Infantile Spasms-Ocular Anomalies Callosal Agenesis and Ocular Abnormalities Chorioretinal Anomalies with ACC Corpus Callosum, Agenesis of and Chorioretinal Abnormality Disorder Subdivisions None General Discussion Aicardi Syndrome is an extremely rare congenital disorder in which the structure linking the two cerebral hemispheres of the brain (corpus callosum) fails to develop. The absence of the corpus callosum is associated with frequent seizures, marked abnormalities of the retina and choroid (the thin membrane that covers the retina) of the eyes, and/or mental retardation. Resources Aicardi Syndrome Newsletter, Inc.

90. Aicardi aicardi syndrome. (See also AGENESIS OF THE CORPUS , EPILEPSY). aicardi syndrome Awareness and Support Group. 29 Delavan Avenue. Toronto, ON Canada M5P 1T2 http://www.childhealthinfo.com/a/aicardi.htm

AICARDI SYNDROME (See also AGENESIS OF THE CORPUS , EPILEPSY) Aicardi Syndrome Awareness and Support Group 29 Delavan Avenue Toronto, ON Canada M5P 1T2 Aicardi Syndrome Newsletter, Inc. 5115 Troy Urbana Road Casstown, OH 45312 (513) 339-6033 (voice/fax) asneditor@aol.com Richard Allen, MD Pediatric Neurology Services 0800/C7123 Outpatient Building University Hospitals Ann Arbor, MI 48109-0800 [Home] [Printed Guide] [Child Care for the '90's] [Links] ... MoreInfo@ChildHealthInfo.com

91. Hill Health Topics A-Z - Aicardi Syndrome aicardi syndrome. National Organization for Rare Disorders. Important It is possible that the main title of the report aicardi syndrome is not the name you http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=nord49&SEC

92. MakingContact.org - Linking Families With Disabled Children I have found 1 person listed against aicardi syndrome, they are listed below, sorted by location updated 15 Jul 2005, My daughter has aicardi syndrome. http://www.makingcontact.org/index.php?ci=57

93. Blackwell Synergy - Cookie Absent Anesthetic management of a child with aicardi syndrome. CherylK. Gooden, Valerie A. Pate The vast majority of patients with aicardi syndrome are female. http://www.blackwell-synergy.com/doi/abs/10.1111/j.1460-9592.2005.01502.x

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94. Canadian Directory Of Genetic Support Groups aicardi syndrome Awareness and Support Network 29 Delavan Avenue Toronto, Ontario, Canada, M5P 1T2 Tel 416.481.4095 Email asasn@sympatico.ca http://www.lhsc.on.ca/programs/medgenet/aicardis.htm

Index by support group Canadian Directory of Genetic Support Groups Aicardi Syndrome Awareness and Support Network 29 Delavan Avenue Toronto, Ontario, Canada, M5P 1T2 Tel: 416.481.4095 Email: asasn@sympatico.ca Website: Aicardi Syndrome Foundation Page revised: April 2, 2004 Maintained by: Janice Little Index by disease/ disorder Return to Programs and Services Questions? Comments? Contact Janice Little London Health Sciences Centre . Please read our

95. Aicardi-Goutières Syndrome News, descriptions, contacts, and other information concerning this leukodystrophy. http://www.aicardi-goutieres.com

Aicardi-Goutières syndrome If your Browser show this, please mail me ! here are the keywords for the search machine : aicardi goutieres goutières syndrom syndrome disease dna kinderkrankheit anfall attack hereditary chromosom erbfehler chromosomen selten rare gen myelin verkalkung interferon alpha özer oezer miller hane dorn lebon voit klepper oriano coppi tew schulz werder kremer dorn crow rodriguez petersen Østergaard Oliveira Why this side about Aicardi - Goutieres syndrom? What is Aicardi - Goutieres syndrome ? How is Aicardi - Goutieres diagnostics ? Childs with Aicardi - Goutieres syndrome !

96. Aicardi's Syndrome (www.whonamedit.com) aicardi s syndrome Characteristic malformation syndrome which appear in females only (males intrauterine death), with progrediating psychomotor http://www.whonamedit.com/synd.cfm/156.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related Aicardi's 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. Associated persons: Jean François Marie Aicardi Description: Characteristic malformation syndrome which appear in females only (males - intrauterine death), with progrediating psychomotor deterioration. Infantile spasms, which may become manifest between 1 day and 4 months of age, epileptic attacks; typical bowing of the head (salaam seizures), agenesis of the corpus callosum, costovertebral anomalies, mental abnormalities, and hypotonia. Ocular changes include microphthalmia, eyelid twitching, absent pupillary reflexes, and funnel-shaped disks. Etiology unknown. Current theories include congenital infection, an X-linked genetic defect, and an intrauterine environmental agent. Poor prognosis.

97. Jean François Marie Aicardi (www.whonamedit.com) Jean François Marie aicardi French paediatrician, born 1926, Rambouillet. Associated with aicardi s syndrome. http://www.whonamedit.com/doctor.cfm/152.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related Jean François Marie Aicardi French paediatrician, born 1926, Rambouillet. Associated eponyms: Aicardi's syndrome Characteristic malformation syndrome which appear in females only (males - intrauterine death), with progrediating psychomotor deterioration. Biography: Jean François Marie Aicardi studied at the Paris Medical School and became an Interne des Hôpitaux de Paris in 1951. During his internship he took a keen interest in neurology at the Hôpital de la Salpêtrière under Raymond Garcin (1897-1971), and in child neurology at the Hôpital des Enfants Malades in Paris under Stéphane Thieffry, who was the first paediatrician in France to dedicate himself entirely to child neurology. In the early 1950s, Aicardi was preparing his thesis on convulsive disorders in the first year of life and was impressed and fascinated by the works of Henri Jean Pascal Gastaut (1915-1995). He received his doctorate from the University of Paris in 1955. Aicardi spent the years 1955-1956 as a research fellow at the Harvard Medical School and the Children's Hospital Medical Center in Boston. Here he had the opportunity to increase his knowledge of child neurology, and to discover the dynamic and rigorous style of American research, a process that he adopted for his own.

98. Aicardi Syndrome aicardi s syndromeaicardi s syndrome. This article submitted by Geoff McGowan on 11/15/95. After much testing she was diagnosed with aicardi s syndrome. http://neuro-www.mgh.harvard.edu/neurowebforum/EpilepsyArticles/aicardisyndrome.

aicardi syndrome This response submitted by anna on 8/16/96. Author's Email: asampson@hkabc.net Dear Graham, Your article is full of hope. My daughter is suffering from aicardi syndrome and has infantile spasms. Her doctor has painted a severe grim picture of her future or lack of it. She may never be able to speak, sit alone or walk. She is only 3 month old and when I think of her life ahead, it cuts me like a knife. I won't give up hope that may be one day she will be cured. She does not really have a life now, living in hospital having seizures every hour and being tried on several anti convulsants without much luck. I hope that she will be as strong as you are. Anna Next Article Previous Article Return to Main Article Article complete. Click HERE to return to the Neurology Web-Forum Menu.

99. ORPHANET - Maladies Rares - Médicaments Orphelins Le syndrome d aicardi est une anomalie du développement caractérisée par une http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=50

100. Aicardi's Syndrome; Radiologic Manifestations -- Phillips Et Al. 127 (2): 453 -- Features of aicardi s syndrome include infantile spasms associated with pathognomonic chorioretinopathy, abnormalities of the corpus callosum with http://radiology.rsnajnls.org/cgi/content/abstract/127/2/453

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Phillips, H. E. Articles by O'Connor, J. F. ARTICLES Aicardi's syndrome; radiologic manifestations HE Phillips, AP Carter, JL Kennedy Jr, NP Rosman and JF O'Connor Features of Aicardi's syndrome include infantile spasms associated with pathognomonic chorioretinopathy, abnormalities of the corpus callosum with heterotopia of gray matter, and characteristic electroencephalographic findings. Vertebral abnormalities are also part of the syndrome, which is apparently limited to female infants. Subnormal mental development appears in all cases. It was first described in 1969 in French. Isolated cases in

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