Aicardi Syndrome: A rare genetic disorder characterized by partial or complete absence of the CORPUS CALLOSUM, resulting in infantile spasms, MENTAL RETARDATION, and lesions of the RETINA or OPTIC NERVE.Agenesis of Corpus Callosum: Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.Spasms, Infantile: An epileptic syndrome characterized by the triad of infantile spasms, hypsarrhythmia, and arrest of psychomotor development at seizure onset. The majority present between 3-12 months of age, with spasms consisting of combinations of brief flexor or extensor movements of the head, trunk, and limbs. The condition is divided into two forms: cryptogenic (idiopathic) and symptomatic (secondary to a known disease process such as intrauterine infections; nervous system abnormalities; BRAIN DISEASES, METABOLIC, INBORN; prematurity; perinatal asphyxia; TUBEROUS SCLEROSIS; etc.). (From Menkes, Textbook of Child Neurology, 5th ed, pp744-8)Syndrome: A characteristic symptom complex.Papilloma, Choroid Plexus: A usually benign neoplasm that arises from the cuboidal epithelium of the choroid plexus and takes the form of an enlarged CHOROID PLEXUS, which may be associated with oversecretion of CSF. The tumor usually presents in the first decade of life with signs of increased intracranial pressure including HEADACHES; ATAXIA; DIPLOPIA; and alterations of mental status. In children it is most common in the lateral ventricles and in adults it tends to arise in the fourth ventricle. Malignant transformation to choroid plexus carcinomas may rarely occur. (Adams et al., Principles of Neurology, 6th ed, p667; DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2072)Sex Chromosome Disorders: Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).Periventricular Nodular Heterotopia: A disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches.Malformations of Cortical Development: Abnormalities in the development of the CEREBRAL CORTEX. These include malformations arising from abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS (Group I); abnormal neuronal migration (Group II); and abnormal establishment of cortical organization (Group III). Many INBORN METABOLIC BRAIN DISORDERS affecting CNS formation are often associated with cortical malformations. They are common causes of EPILEPSY and developmental delay.Eye Abnormalities: Congenital absence of or defects in structures of the eye; may also be hereditary.Pupil Disorders: Conditions which affect the structure or function of the pupil of the eye, including disorders of innervation to the pupillary constrictor or dilator muscles, and disorders of pupillary reflexes.Central Nervous System Cysts: Congenital or acquired cysts of the brain, spinal cord, or meninges which may remain stable in size or undergo progressive enlargement.Coloboma: Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.Epilepsies, Myoclonic: A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.).Choroid Diseases: Disorders of the choroid including hereditary choroidal diseases, neoplasms, and other abnormalities of the vascular layer of the uvea.Abnormalities, MultipleRetinal DiseasesGenetic Diseases, X-Linked: Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.Lupus Erythematosus, Systemic: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.Encyclopedias as Topic: Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)Ribonuclease H: A ribonuclease that specifically cleaves the RNA moiety of RNA:DNA hybrids. It has been isolated from a wide variety of prokaryotic and eukaryotic organisms as well as RETROVIRUSES.Ribonuclease H, Human Immunodeficiency Virus: A ribonuclease activity that is a component of the HIV REVERSE TRANSCRIPTASE. It removes the RNA strand of the RNA-DNA heteroduplex produced by reverse transcription. Once the RNA moiety is removed a double stranded DNA copy of the HIV RNA can be synthesized.ItalyCorpus Callosum: Broad plate of dense myelinated fibers that reciprocally interconnect regions of the cortex in all lobes with corresponding regions of the opposite hemisphere. The corpus callosum is located deep in the longitudinal fissure.Click Chemistry: Organic chemistry methodology that mimics the modular nature of various biosynthetic processes. It uses highly reliable and selective reactions designed to "click" i.e., rapidly join small modular units together in high yield, without offensive byproducts. In combination with COMBINATORIAL CHEMISTRY TECHNIQUES, it is used for the synthesis of new compounds and combinatorial libraries.Visual Fields: The total area or space visible in a person's peripheral vision with the eye looking straightforward.Treatment Outcome: Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.Alkynes: Hydrocarbons with at least one triple bond in the linear portion, of the general formula Cn-H2n-2.Double-Blind Method: A method of studying a drug or procedure in which both the subjects and investigators are kept unaware of who is actually getting which specific treatment.Internet: A loose confederation of computer communication networks around the world. The networks that make up the Internet are connected through several backbone networks. The Internet grew out of the US Government ARPAnet project and was designed to facilitate information exchange.Focal Dermal Hypoplasia: A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and transmitted as an X-linked dominant trait.Microphthalmos: Congenital or developmental anomaly in which the eyeballs are abnormally small.Skin Abnormalities: Congenital structural abnormalities of the skin.Autoimmune Diseases of the Nervous System: Disorders caused by cellular or humoral immune responses primarily directed towards nervous system autoantigens. The immune response may be directed towards specific tissue components (e.g., myelin) and may be limited to the central nervous system (e.g., MULTIPLE SCLEROSIS) or the peripheral nervous system (e.g., GUILLAIN-BARRE SYNDROME).Nervous System Malformations: Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis.Chilblains: Recurrent localized itching, swelling and painful erythema on the fingers, toes or ears, produced by exposure to cold.Basal Ganglia Diseases: Diseases of the BASAL GANGLIA including the PUTAMEN; GLOBUS PALLIDUS; claustrum; AMYGDALA; and CAUDATE NUCLEUS. DYSKINESIAS (most notably involuntary movements and alterations of the rate of movement) represent the primary clinical manifestations of these disorders. Common etiologies include CEREBROVASCULAR DISORDERS; NEURODEGENERATIVE DISEASES; and CRANIOCEREBRAL TRAUMA.Monomeric GTP-Binding Proteins: A class of monomeric, low molecular weight (20-25 kDa) GTP-binding proteins that regulate a variety of intracellular processes. The GTP bound form of the protein is active and limited by its inherent GTPase activity, which is controlled by an array of GTPase activators, GDP dissociation inhibitors, and guanine nucleotide exchange factors. This enzyme was formerly listed as EC 3.6.1.47Iris Diseases: Diseases, dysfunctions, or disorders of or located in the iris.SwitzerlandCysts: Any fluid-filled closed cavity or sac that is lined by an EPITHELIUM. Cysts can be of normal, abnormal, non-neoplastic, or neoplastic tissues.Color: The visually perceived property of objects created by absorption or reflection of specific wavelengths of light.Iris: The most anterior portion of the uveal layer, separating the anterior chamber from the posterior. It consists of two layers - the stroma and the pigmented epithelium. Color of the iris depends on the amount of melanin in the stroma on reflection from the pigmented epithelium.Acrocallosal Syndrome: Autosomal recessive syndrome characterized by hypogenesis or agenesis of CORPUS CALLOSUM. Clinical features include MENTAL RETARDATION; CRANIOFACIAL ABNORMALITIES; digital malformations, and growth retardation.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Point Mutation: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.MedlinePlus: NATIONAL LIBRARY OF MEDICINE service for health professionals and consumers. It links extensive information from the National Institutes of Health and other reviewed sources of information on specific diseases and conditions.Adenosine Deaminase: An enzyme that catalyzes the hydrolysis of ADENOSINE to INOSINE with the elimination of AMMONIA.RNA Editing: A process that changes the nucleotide sequence of mRNA from that of the DNA template encoding it. Some major classes of RNA editing are as follows: 1, the conversion of cytosine to uracil in mRNA; 2, the addition of variable number of guanines at pre-determined sites; and 3, the addition and deletion of uracils, templated by guide-RNAs (RNA, GUIDE).Inosine: A purine nucleoside that has hypoxanthine linked by the N9 nitrogen to the C1 carbon of ribose. It is an intermediate in the degradation of purines and purine nucleosides to uric acid and in pathways of purine salvage. It also occurs in the anticodon of certain transfer RNA molecules. (Dorland, 28th ed)Pigmentation DisordersAdenosine: A nucleoside that is composed of ADENINE and D-RIBOSE. Adenosine or adenosine derivatives play many important biological roles in addition to being components of DNA and RNA. Adenosine itself is a neurotransmitter.RNA, Double-Stranded: RNA consisting of two strands as opposed to the more prevalent single-stranded RNA. Most of the double-stranded segments are formed from transcription of DNA by intramolecular base-pairing of inverted complementary sequences separated by a single-stranded loop. Some double-stranded segments of RNA are normal in all organisms.

Brain abnormalities on MR imaging in patients with retinoblastoma. (1/9)

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Diffusion tensor imaging of Aicardi syndrome. (2/9)

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Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families. (3/9)

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Surgical treatment of neurological scoliosis using hybrid construct (lumbar transpedicular screws plus thoracic sublaminar acrylic loops). (4/9)

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Chorioretinal architecture in Aicardi syndrome: an optical coherence tomography and fluorescein angiography study. (5/9)

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Laterality of brain and ocular lesions in Aicardi syndrome. (6/9)

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Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms. (7/9)

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Ophthalmologic findings in Aicardi syndrome. (8/9)

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  • In the case of Aicardi syndrome, researchers think that the deactivation of the X chromosomes fails to alternate randomly. (healthline.com)
  • Estimates suggest that the worldwide prevalence of Aicardi Syndrome is around several thousand with almost 900 such cases identified in the United States. (news-medical.net)
  • Other types of defects of the brain such as microcephaly, polymicrogyria, porencephalic cysts and enlarged cerebral ventricles due to hydrocephalus are also common in Aicardi syndrome. (wikipedia.org)
  • Cerebellar migration defects in aicardi syndrome: an extension of the neuropathological spectrum. (medscape.com)
  • Aicardi syndrome may occur with other brain defects. (floridahealthfinder.gov)
  • To date, defects in 6 genes are known to cause the syndrome. (medindia.net)
  • 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). (drugster.info)
  • 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). (drugster.info)
  • This syndrome has been shown to be related to defects in holocytochrome C synthase ( HCCS ) gene. (medscape.com)
  • It is named after Jean Aicardi and Francois Goutières who first described the condition in 1984 in patients who had presented with early onset encephalopathy, basal ganglia calcification, and persistent lymphocytosis in the cerebrospinal fluid. (icnapedia.org)
  • Most infants with Aicardi-Goutières syndrome (AGS) manifest after the first few weeks of life with a subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth usually resulting in severe intellectual and physical handicap. (ddccliniclab.org)
  • a/w hepatic encephalopathy + hepatopulmonary syndrome. (brainscape.com)
  • Aicardi syndrome is often complicated by severe mental retardation, intractable epilepsy, and a resultant propensity to pulmonary complications. (medscape.com)
  • Nearly all children with this syndrome have severe learning difficulties and remain completely dependent on others. (floridahealthfinder.gov)
  • In 1984, Jean Aicardi and Françoise Goutières described 8 children showing both severe brain atrophy and chronic cerebrospinal fluid lymphocytosis, with basal ganglia calcification in at least one member of each affected family. (semanticscholar.org)
  • It is a rare case that the child does not suffer the mild syndrome that later on results to a very severe mental retardation. (medicalfoxx.com)
  • Individuals with cerebro-oculo-facio-skeletal syndrome are usually identified at birth or shortly thereafter, on the basis of their physical appearance and severe psychomotor retardation. (onlymyhealth.com)
  • Additional comorbidities and complications sometimes seen with Aicardi syndrome include porencephalic cysts and hydrocephalus, and gastro-intestinal problems. (wikipedia.org)
  • Chorioretinal lacunae  Criteria that are highly suggestive of Aicardi syndrome  Partial or complete callosal agenesis  Cortical dysplasia  Gross asymmetry of the hemispheres  Periventricular or subcortical heterotopias  Cysts of the choroid plexus or around the third ventricle is highly suggestive of AS DIAGNOSIS: DIAGNOSIS: AICARDI SYNDROME ASSOCIATED WITH MULTIPLE CORTICAL DYSPLASIAS THAT INCLUDE HEMIMEGALENCEPHALY, LISSENCEPHALY, HETEROTOPIAS, AND SEPTO-OPTIC DYSPLASIA. (slideshare.net)
  • An algorithm of early infantile leukodystrophies with and without temporal lobe swelling or temporal lobe dilation and cysts shows the differentiation of A-G syndrome from other leukodystrophies based on MRI analyses. (pediatricneurologybriefs.com)
  • This syndrome is characterized by orbital cysts of microphthalmia, cerebral malformations, and focal dermal hypoplasia (rare). (medscape.com)
  • The acoustic ataxia was aboriginal diagnosed added than thirty years ago, back French doctor, Dr. Jean Dennis Aicardi, articular eight accouchement who always acquaintance babyish spasms. (blogspot.com)
  • An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation. (semanticscholar.org)
  • This syndrome is caused by a mutation of EPB , a neighboring gene that may be affected by a microdeletion, affecting both genes. (medscape.com)
  • Many individuals with Li-Fraumeni syndrome have been shown to be heterozygous for a TP53 mutation. (wikipedia.org)
  • Unique Brazilian Mutation: Although other mutations leading to Li-Fraumeni syndrome have been found outside the DNA-binding domain, a mutation at codon 337 of the tetramerization domain of TP53 has shown a particularly high frequency. (wikipedia.org)
  • Treatment of Aicardi syndrome primarily involves management of seizures and early/continuing intervention programs for developmental delays. (wikipedia.org)
  • However, almost all people reported with Aicardi syndrome to date have experienced developmental delay of a significant degree, typically resulting in mild to moderate to profound intellectual disability. (wikipedia.org)
  • Part of having a child with Aicardi syndrome is learning to cope and help, in any way, with the developmental delays or learning disabilities the child may have. (medlexi.com)
  • These findings implicate cGAS as a key driver of autoimmune disease and suggest that cGAS inhibitors may be useful therapeutics for Aicardi-Goutières syndrome and related autoimmune diseases. (jimmunol.org)
  • Diseases associated with TEAD1 include Sveinsson Chorioretinal Atrophy and Aicardi Syndrome . (genecards.org)
  • Aicardi syndrome is an X-linked dominant condition, with the locus Xp22. (medscape.com)
  • Adams-Oliver syndrome is an autosomal dominant condition that involves an association of scalp and skull bone aplasias with distal limb reductions. (medscape.com)
  • Dominant Negative Mutations: Most individuals with Li-Fraumeni syndrome are heterozygous for a mutant TP53 gene, and some p53 mutants can inhibit the function of the wild-type p53 in a dominant negative manner. (wikipedia.org)
  • A number of tumors have been reported in association with Aicardi syndrome: choroid plexus papilloma (the most common), medulloblastoma, gastric hyperplastic polyps, rectal polyps, soft palate benign teratoma, hepatoblastoma, parapharyngeal embryonal cell cancer, limb angiosarcoma and scalp lipoma. (wikipedia.org)
  • citation needed] Children are most commonly identified with Aicardi syndrome before the age of five months. (wikipedia.org)
  • 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. (medscape.com)
  • Phenotypic variation in Aicardi-Goutières syndrome explained by cell-specific IFN-stimulated gene response and cytokine release. (nih.gov)
  • Aicardi syndrome: presentation at onset in Swedish children born in 1975-2002. (aicardisyndromefoundation.org)
  • and other international centers review a series of patients with MRIs selected from IRB-approved leukodystrophy biorepositories to identify MRI patterns for recognition of early-onset Aicardi-Goutieres (A-G) syndrome and scored for a panel of radiologic predictors. (pediatricneurologybriefs.com)
  • Li-Fraumeni syndrome is characterized by early onset of cancer, a wide variety of types of cancers, and development of multiple cancers throughout one's life. (wikipedia.org)
  • Diagnosis-specific differences provide mechanistic insight into the disease process in the defined subtypes of multiple sclerosis (MS), neonatal onset multisystem inflammatory disease, and Aicardi-Goutières syndrome. (jimmunol.org)
  • An additional 7 patients were described in 1969, and in 1972, Dennis and Bower established the Aicardi syndrome designation. (medscape.com)
  • The identification of recurrent hypomethylation in the KCNAB3 gene's promoter and 5' areas in patients with Aicardi syndrome, as discussed in a study by Piras et al, may aid in the understanding of neuronal hyperactivity, as well as the neurodevelopmental and/or neuroinflammation pathways, in these individuals. (medscape.com)
  • It was named after two American physicians, Frederick Pei Li and Joseph F. Fraumeni, Jr. , who first recognized the syndrome after reviewing the medical records and death certificates of 648 childhood rhabdomyosarcoma patients. (wikipedia.org)