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Topic: Aicardi syndrome


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  Lifespan's A - Z Health Information Library - Aicardi syndrome   (Site not responding. Last check: 2007-10-31)
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.
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.
Aicardi Syndrome Newsletter was established in 1984 by the 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.
www.lifespan.org /adam/healthillustratedencyclopedia/1/001664.html   (708 words)

  
 Aicardi syndrome - Wikipedia, the free encyclopedia
Aicardi syndrome is a congenital disorder thought to result from an abnormality of the X chromosome and characterized by absence of the corpus callosum, retinal abnormalities, and seizures (often infantile spasms).
It was first described by Jean Aicardi, a french neurologist, in 1965.
Children are most commonly identified with Aicardi Syndrome between the ages of three and five months.
en.wikipedia.org /wiki/Aicardi_syndrome   (287 words)

  
 Aicardi Syndrome Information Page: National Institute of Neurological Disorders and Stroke (NINDS)
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
Onset of Aicardi Syndrome generally begins between the ages of 3 and 5 months with infantile spasms, a type of childhood seizure.
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.
www.ninds.nih.gov /disorders/aicardi/aicardi.htm   (325 words)

  
 Rare Pediatric Disease Database   (Site not responding. Last check: 2007-10-31)
Aicardi syndrome is a very rare condition characterized by infantile spasms (a type of seizure), agenesis of the corpus callosum (partial or complete absence of brain nerve fibers between the right and left hemisphere), and chorioretinal lacunae (holes in the back of the eye).
Aicardi syndrome is believed to result from a mutation on the X chromosome.
Aicardi syndrome: spectrum of disease and long-term prognosis in 77 females.
www.madisonsfoundation.org /content/3/1/display.asp?did=424   (792 words)

  
 Microcephaly
Aicardi syndrome consists of the association of agenesis of the corpus callosum,
Aicardi syndrome usually manifests with seizures in the neonatal period.
MRI of the brain in a neonate with Aicardi syndrome: [A] agenesis of the corpus callosum and interhemispheric cyst; [B] colpocephaly and interhemispheric cyst; [C] lacunar chorioretinopathy.
pediatricneuro.com /alfonso/pg281.htm   (218 words)

  
 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).
The prognosis for individuals with Aicardi syndrome varies according to the presence and severity of symptoms.
healthlink.mcw.edu /article/921381662.html   (183 words)

  
 Aicardi's syndrome (www.whonamedit.com)
This syndrome is defined as a "rare disorder", meaning that there are less than 20,000 cases worldwide.
The number of identified cases of girls with Aicardi syndrome is approximately 300 - 500 worldwide.
A new syndrome: Spasm in flexion, callosal agenesis, ocular abnormalities.
www.whonamedit.com /synd.cfm/156.html   (268 words)

  
 Aicardi Syndrome Foundation
Aicardi syndrome is a rare genetic disorder identified by the French Neurologist, Dr. Jean Aicardi in 1965.
There is only one case of siblings with the syndrome reported upon in the literature, suggesting that almost all cases are new mutations and other family members do not carry the defective gene.
Genetic research is ongoing into the cause of this disorder and the Aicardi Syndrome Foundation and newsletter member families continue to be active participants in several research projects.
www.aicardisyndrome.org /index.php?pname=whatis   (418 words)

  
 Aicardi-Goutieres Syndrome - United Leukodystrophy Foundation
Aicardi-Goutieres Syndrome is generally either fatal, or else it results in a persistent vegetative state in early childhood.
Briefly, it means that both parents of a child with Aicardi-Goutieres Syndrome carry a single copy of the defective gene responsible for the disease.
You may also hear Aicardi-Goutieres Syndrome called familial infantile encephalopathy, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis; this is simply a more medically descriptive name for the disease.
www.ulf.org /types/Aicardi.html   (610 words)

  
 Aicardi Syndrome
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.
The diagnosis of Aicardi Syndrome may be confirmed by an examination of the eyes that typically reveals small cream-colored cavities (lucunae) within the retina.
hw.healthdialog.com /kbase/nord/nord49.htm   (1213 words)

  
 Aicardi Syndrome
Aicardi syndrome is a rare disorder that was first identified in 1965 by a French neurologist named Dr. Jean Aicardi.
Infants with Aicardi syndrome may have an apparently normal birth, but begin to develop symptoms between the ages of 3 and 5 months.
Females are diagnosed with Aicardi syndrome, usually between the ages of three months and five months, when infantile spasms alert the parents and healthcare provider to a disorder.
www.hmc.psu.edu /childrens/healthinfo/a/aicardi.htm   (636 words)

  
 August is Aicardi Syndrome Awareness Month - Associated Content
Aicardi Syndrome strikes females (only two boys have ever been diagnosed) and usually is detected before a child reaches 5 months.
Because Aicardi Syndrome is a neurological disorder, most children with Aicardi develop mild to severe mental retardation.
What is particularly difficult for parents of children with Aicardi Syndrome is that girls with severe cases have often died suddenly of pneumonia, other pulmonary complications, or even for no detectable reason at all.
www.associatedcontent.com /article/53242/august_is_aicardi_syndrome_awareness.html   (479 words)

  
 eMedicine - Aicardi Syndrome : Article Excerpt by: Marc P DiFazio, MD   (Site not responding. Last check: 2007-10-31)
Given the phenotypic heterogeneity and diagnostic difficulties associated with young children, Aicardi syndrome may be a more frequent cause of mental retardation and seizure in girls than previously thought.
Mortality/Morbidity: Aicardi syndrome is often complicated by severe mental retardation, intractable epilepsy, and a resultant propensity to pulmonary complications.
Sex: Aicardi syndrome is thought to be an X-linked dominant disorder lethal to males.
www.emedicine.com /ped/byname/aicardi-syndrome.htm   (444 words)

  
 AICARDI SYNDROME: Contact a Family - for families with disabled children: information on rare syndromes and disorders
Aicardi syndrome is a very rare neurological condition due to a congenital abnormality of brain development.
It is an example of one of the syndromic causes of agenesisof the corpus callosum.
Aicardi syndrome is not the same as, and has no link to, a separate neurological condition referred to as Aicardi-Goutiers syndrome.
www.cafamily.org.uk /Direct/a28.html   (944 words)

  
 Aicardi Syndrome - Keep Kids Healthy 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.
Aicardi Syndrome Foundation: web page of the Aicardi Syndrome Foundation, a not-for-profit organization that provides funds for the purchase of medical and adaptive equipment for affected daughters, publication and distribution of the Aicardi Syndrome Newsletter and contributes to ongoing research into the causes of Aicardi syndrome.
www.keepkidshealthy.com /welcome/conditions/aicardi.html   (312 words)

  
 Aicardi syndrome - WrongDiagnosis.com
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.
Aicardi syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
This means that Aicardi syndrome, or a subtype of Aicardi syndrome, affects less than 200,000 people in the US population.
www.wrongdiagnosis.com /a/aicardi_syndrome/intro.htm   (557 words)

  
 Aicardi-Goutieres syndrome   (Site not responding. Last check: 2007-10-31)
Aicardi-Goutières syndrome is according to humangenetics; a recessive heriditary disease, that means both parents carry the chromosomerror in them selves.
Aicardi-Goutieres syndrome is a progressive disease that affects the brain and the immune system, causing brain atrophy and loss of white matter in the brain.
The syndrome is often mistaken for a pre-natal virus, but it is actually inherited genetically.
www.aicardi-goutieres.com /engwas.htm   (331 words)

  
 Information about Aicardi Syndrome
Aicardi syndrome usually begins between the ages of 3 and 5 months with infantile spasms, a type of childhood seizure.
It 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.
Aicardi syndrome was first identified in 1965 by a French neurologist named Dr. Jean Aicardi.
www.mamashealth.com /neu/aicardi.asp   (185 words)

  
 eMedicine - Aicardi Syndrome : Article by Marc P DiFazio, MD
Aicardi syndrome is often diagnosed in female infants only after the onset of seizures or when the presence of dysmorphic facies prompts further evaluation.
A genetic basis for the syndrome is favored, specifically an X-linked dominant mutation with lethality in male hemizygotes.
Aicardi J, Lefebvre J, Lerique-Koechlin A: A new syndrome: spasm in flexion, callosal agenesis, ocular abnormalities.
www.emedicine.com /ped/topic58.htm   (2832 words)

  
 Aicardi syndrome -- KING et al. 82 (4): 456 -- British Journal of Ophthalmology
Aicardi syndrome is thought to be an X linked dominant disorder.
Our case suggests that there may be a wide spectrum of Aicardi syndrome.
Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome.
bjo.bmjjournals.com /cgi/content/full/82/4/456a   (631 words)

  
 Aicardi syndrome definition - Medical Dictionary definitions of popular medical terms
Features associated with Aicardi syndrome include cleft lip and/or palate, fatty tumors (lipomas) of the scalp, blood vessel malformations (cavernous hemangiomas), rib and vertebral defects and scoliosis (curved spine).
In a heterozygous female (with the Aicardi gene on one of her two X chromosomes), the Aicardi gene causes Aicardi syndrome.
The Aicardi gene has been charted to the short (p) arm of the X chromosome and is in band Xp22.
www.medterms.com /script/main/art.asp?articlekey=11569   (207 words)

  
 Statistics about Aicardi syndrome - WrongDiagnosis.com
The term 'prevalence' of Aicardi syndrome usually refers to the estimated population of people who are managing Aicardi syndrome at any given time.
The term 'incidence' of Aicardi syndrome refers to the annual diagnosis rate, or the number of new cases of Aicardi syndrome diagnosed each year.
Hence, these two statistics types can differ: a short-lived disease like flu can have high annual incidence but low prevalence, but a life-long disease like diabetes has a low annual incidence but high prevalence.
www.wrongdiagnosis.com /a/aicardi_syndrome/stats.htm   (205 words)

  
 Aicardi Syndrome
The goals of this research are to find the genes involved in these disorders and to learn more about them.
Finding the genes could lead to an effective means to treat and prevent disorders such as Aicardi syndrome.
For additional written health information, please contact the Health Information Center at the Cleveland Clinic (216) 444-3771 or toll-free (800) 223-2273 extension 43771 or visit www.clevelandclinic.org/health/.
www.clevelandclinic.org /health/health-info/docs/1200/1244.asp   (272 words)

  
 Disease - Aicardi syndrome - Hartford, Connecticut CT
Disease - Aicardi syndrome - Hartford, Connecticut CT About Us
The newsletter has also published yearbooks, family directories, and two medical-model surveys of affected daughters.
Working in cooperation with the Aicardi Syndrome Newsletter.
www.saintfranciscare.com /1857.cfm   (722 words)

  
 Aicardi syndrome
Choroid plexus papilloma and Aicardi syndrome: case report
The full spectrum of persistent fetal vasculature in Aicardi syndrome: an integrated interpretation of ocular malformations
Aicardi’s syndrome in a male child: An unusual presentation
www.gfmer.ch /genetic_diseases_v2/gendis_detail_list.php?cat3=22   (98 words)

  
 Aicardi Syndrome - SJMMC, Ann Arbor, Michigan MI
Aicardi Syndrome - SJMMC, Ann Arbor, Michigan MI Online Health Information
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.
www.sjmercyhealth.org /12364.cfm   (397 words)

  
 Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Bloom Syndrome (Congenital Telangiectatic Erythema) [A Bajoghli] - eMedicine
Vocational Guidance and Prader-Willi Syndrome - J of Rehabilitation, Jan-Mar 2003
Costello Syndrome - Atlas of Genetics and Cytogenetics in Oncology and Haematology (FR)
www.mic.ki.se /Diseases/c16.html   (2087 words)

  
 Aicardi Syndrome Press Releases: National Institute of Neurological Disorders and Stroke (NINDS)
Aicardi Syndrome Press Releases: National Institute of Neurological Disorders and Stroke (NINDS)
There are no press releases for: Aicardi Syndrome.
Use your browser's Back button to return to your previous activity.
www.ninds.nih.gov /disorders/aicardi/press_aicardi.htm   (55 words)

  
 Aicardi Syndrome / The Family Village Library   (Site not responding. Last check: 2007-10-31)
This Foundation provides a chat room and information network on Aicardi Syndrome for families and professionals.
Agenesis of Corpus Callosum with Chorioretinal Abnormality (Aicardi Syndrome)
A Support Group for the families and carers of those with Agenesis of the Corpus Callosum, and Aicardi Syndrome
www.familyvillage.wisc.edu /lib_aica.htm   (98 words)

  
 Aicardi Syndrome
Aicardi Syndrome Information Page National Institute of Neurological Disorders and Stroke
DISCLAIMER: NOAH is an information guide only and cannot answer personal health-related or research questions.
All medical information needs to be carefully reviewed with your health care provider.
www.noah-health.org /en/bns/disorders/other/arcadi.html   (95 words)

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