DiseasesPhenomena and Processes
Aicardi SyndromeAgenesis of Corpus CallosumSpasms, InfantileSyndromePapilloma, Choroid PlexusSex Chromosome DisordersPeriventricular Nodular HeterotopiaMalformations of Cortical DevelopmentEye AbnormalitiesPupil DisordersCentral Nervous System CystsColobomaEpilepsies, MyoclonicChoroid DiseasesAbnormalities, MultipleRetinal DiseasesGenetic Diseases, X-LinkedGenes, Dominant
Corpus callosumChildren with infantileDisorderEpilepsy syndromesFamilialInfantileNephrotic SyndromeCongenital syndromeGeneticNeurodevelopmentalMitochondrialMental retardationHereditaryDefectsGeneticsDisordersDiseaseGorlin SyndromeMutationManifestationsInheritance1972Gene expressionFindingsRettEpilepticMolecularClinicalOccursGlycineFocalSevereBenignExclusively
Corpus callosum5
  • People with Aicardi syndrome have absent or underdeveloped tissue connecting the left and right halves of the brain (agenesis or dysgenesis of the corpus callosum ). (medlineplus.gov)
  • In 1965, a French neurologist, Dr Jean Dennis Aicardi, described 8 children with infantile spasm-in-flexion, total or partial agenesis of the corpus callosum, and variable ocular abnormalities. (medscape.com)
  • Parents do not have any symptoms of disease, but with every child they have together, there is a one in four chance that the baby will receive two copies of the defective gene and inherit AGS.NOTE: AGS is distinct from the similarly named Aicardi syndrome (characterized by absence of a brain structure (corpus callosum), and spinal, skeletal, and eye abnormalities). (brainfacts.org)
  • The article deals with epileptic manifestations with malformations of the corpus callosum of the example of two disembriogenetic syndromes (Aicardi syndrome and Pierre-Robin syndrome). (epilepsia.su)
  • These hereditary syndromes have in common is expressed epileptic manifestations, malformations of the corpus callosum and other somatic congenital abnormality. (epilepsia.su)
Children with infantile1
Disorder12
  • Aicardi syndrome is a disorder that occurs almost exclusively in females. (medlineplus.gov)
  • Aicardi syndrome is a very rare disorder. (medlineplus.gov)
  • Skewed X-inactivation has been identified in girls with Aicardi syndrome, further supporting the idea that the disorder is caused by a mutation in a gene on the X chromosome. (medlineplus.gov)
  • However, this gene has not been identified, and it is unknown how the genetic change that causes Aicardi syndrome results in the various signs and symptoms of this disorder. (medlineplus.gov)
  • Nearly all known cases of Aicardi syndrome are sporadic, which means that they are not passed down through generations and occur in people with no history of the disorder in their family. (medlineplus.gov)
  • Aicardi syndrome is thought to be an X-linked dominant disorder lethal to males. (medscape.com)
  • Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked methyl CpG binding protein 2 ( MeCP2 ) gene. (neurology.org)
  • Rett syndrome (MIM 312750) is a neurodevelopmental disorder affecting postnatal brain growth, with a prevalence estimated to be 1:10,000 to 22,000 females. (neurology.org)
  • Rett syndrome (RTT) has experienced remarkable progress over the past three decades since emerging as a disorder of worldwide proportions, particularly with discovery of the linkage of RTT to MECP2 mutations. (hindawi.com)
  • At a gathering of child neurologists in Europe near the end of the 1970s, Hagberg became aware of this change in the association of these clinical features and hyperammonemia, realized that they were observing the same disorder, and planned together with Jean Aicardi, Karin Dias, and Ovidio Ramos to publish their own combined experiences. (hindawi.com)
  • Shortly thereafter in 1981, Hagberg had a chance meeting with Rett in Toronto and following this discussion elected to name the disorder Rett syndrome. (hindawi.com)
  • Weaver syndrome is a very rare genetic disorder that presents with a range of musculoskeletal, cutaneous, cognitive, and facial symptoms. (symptoma.mt)
Epilepsy syndromes1
  • Specific interests are in genetic epilepsy syndromes, childhood neurodegenerative and neurometabolic diseases and undiagnosed suspected genetic conditions. (stanford.edu)
Familial1
  • Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. (wakehealth.edu)
Infantile1
  • All molecularly confirmed individuals (n=17) with either no symptoms (n=12), migraines (n=1), or a neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP) phenotype (n=3) were found to have an A or U mitochondrial haplogroup, while one child with infantile-lethal Leigh syndrome had a B haplogroup. (stanford.edu)
Nephrotic Syndrome2
  • Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. (nih.gov)
  • Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. (nih.gov)
Congenital syndrome1
  • Because Aicardi is a congenital syndrome, it is often first recognized during the neonatal period and infancy. (medscape.com)
Genetic5
  • 1 Rett syndrome (RTT) is thought to be the one of the most common genetic causes of mental retardation in girls, second only to Down syndrome. (neurology.org)
  • Through genetic linkage studies, we showed X-linked dominant inheritance of RTT and mapped the disease trait to the Xq28 region of the X chromosome. (neurology.org)
  • It is organized into sections by subtype of condition (e.g., infections, genetic syndromes, medication-caused) and includes a section of variants of acne that may be misdiagnosed. (nshealth.ca)
  • Genetic Syndromes Mimicking Acne Vulgaris -- 25. (nshealth.ca)
  • Genetic aetiologies included mitochondrial diseases (57%), Aicardi-Goutières syndrome (20%), and monogenic causes of dystonia and/or epilepsy (17%) mimicking Leigh syndrome. (biomed.news)
Neurodevelopmental2
  • 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)
  • However, cognitive dysfunction, language impairment, and atypical evolutions with adverse seizure and neurodevelopmental outcomes were rarely seen in this syndrome. (medlink.com)
Mitochondrial1
  • Mitochondrial biomarkers showed poor sensitivity and specificity in children with mitochondrial disease, whereas interferon signature was observed in all patients with patients with Aicardi-Goutières syndrome. (biomed.news)
Mental retardation2
  • 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)
  • Aicardi syndrome is often complicated by severe mental retardation, intractable epilepsy, and a resultant propensity to pulmonary complications. (medscape.com)
Hereditary1
  • 2. Dzhons K. Hereditary syndromes by David Smith. (epilepsia.su)
Defects1
  • Cerebellar migration defects in aicardi syndrome: an extension of the neuropathological spectrum. (medscape.com)
Genetics1
  • This syndrome illuminates a very important pathway in early human development - a sort of master switch that controls many other genes," said study leader Ian D. Krantz, M.D., co-director of the Individualized Medical Genetics Center at The Children's Hospital of Philadelphia (CHOP). (filmsdivision.org)
Disorders1
Disease3
  • The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease. (wakehealth.edu)
  • Unlike most other neurogenetic syndromes with known molecular defect, DNA testing at Aicardi syndrome and Pierre-Robin syndrome is very difficult task, and the focus of the diagnosis of the disease belongs to the complex clinical and neuroimaging studies. (epilepsia.su)
  • Nail-patella syndrome (NPS) (previously referred to as Fong's disease), encompasses the classic clinical tetrad of changes in the nails, knees, and elbows, and the presence of iliac horns. (nih.gov)
Gorlin Syndrome1
Mutation2
  • The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity. (wakehealth.edu)
  • Dominant mutation of the TREX1 exonuclease gene in lupus and Aicardi-Goutieres syndrome. (wakehealth.edu)
Manifestations1
Inheritance1
  • There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant, and autosomal recessive gene mutations. (umassmed.edu)
19721
Gene expression1
  • The research teams DNA analysis and studies of gene expression patterns determined that the new syndrome is genetically distinct from CdLS, even while sharing some common molecular mechanisms. (filmsdivision.org)
Findings3
  • 7. Aicardi J. Aicardi syndrome: old and new findings. (epilepsia.su)
  • Poor coordination , owing to the extreme laxity of ligaments, and very loose skin are additional findings in patients suffering from Weaver syndrome [4]. (symptoma.mt)
  • van der Knaap syndrome: MR imaging findings including FLAIR, diffusion imaging, and proton MR spectroscopy. (radiopaedia.org)
Rett1
  • Following this initial clinical exposure to RTT, investigations began to intensify, spurred by efforts of Hugo Moser to convene an international meeting at Johns Hopkins Medical School in 1985 and the subsequent creation of the International Rett Syndrome Association (IRSA) through the leadership of three parents, Kathy Hunter, Gail Smith, and Jane Brubaker. (hindawi.com)
Epileptic1
  • SeLECTS may atypically evolve into Landau-Kleffner syndrome and epileptic encephalopathy with continuous spike-and-wave activation in sleep (EE-SWAS) with potential for persistent neuropsychological impairments. (medlink.com)
Molecular1
  • Different molecular behavior of CD40 mutants causing hyper-IgM syndrome. (unibs.it)
Clinical3
  • In this independent clinical study, we analyzed retrospectively the clinical features of 9 cases (6 male and 3 female) of Lambert-Eaton myasthenic syndrome that were administered 3,4-diaminopyridine (3,4-DAP). (go.jp)
  • Timely detection of these syndromes is a difficult task that requires a great deal of clinical experience, practical knowledge, not only in neuroscience but also in the related fields of medicine. (epilepsia.su)
  • You can help children and adolescents living with Aicardi-Goutires syndrome by supporting research that leads to clinical trials, new treatments and potential cures. (filmsdivision.org)
Occurs1
  • The syndrome occurs in people of diverse racial backgrounds throughout the world with no noted racial predominance. (medscape.com)
Glycine1
Focal1
  • The term "benign" was applied to this syndrome to differentiate it from other sinister causes for focal epilepsies. (medlink.com)
Severe2
  • Aicardi-Goutieres syndrome (AGS) is an inherited encephalopathy that affects newborn infants and usually results in severe mental and physical handicap. (brainfacts.org)
  • There are two forms of the syndrome: an early-onset form that is severe, and a late-onset form that has less impact upon neurological function. (brainfacts.org)
Benign1
  • Self-limited epilepsy with centrotemporal spikes (SeLECTS) is the new name for the previous epilepsy syndrome of benign epilepsy with centrotemporal spikes. (medlink.com)
Exclusively1
  • It is found exclusively in females and transmitted as an X-linked dominant trait. (bvsalud.org)