• Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal lacunes, and epileptic seizures in the form of infantile spasms. (wikipedia.org)
  • At three to six months of age, the girls have epileptic seizures, often of the infantile spasm type caused by changes in the brain's gray matter, the cerebral cortex. (wikipedia.org)
  • The seizures occur either as so-called flexor spasms, when the child's neck suddenly bends forward while the arms make a clasping movement, or as other types of epileptic seizures. (wikipedia.org)
  • Infantile spasms, seizures, or epilepsy develop before age 3 months. (medscape.com)
  • Infants and young children with structural epilepsies may also present with focal seizures or may present with other seizure types such as infantile spasms or tonic seizures . (epilepsy.com)
  • This classification has to be distinguished from the classification of epileptic seizures that refers to single events rather than to clinical syndromes. (clinicalgate.com)
  • Specific interests are in genetic epilepsy syndromes, childhood neurodegenerative and neurometabolic diseases and undiagnosed suspected genetic conditions. (stanford.edu)
  • 795 participants represent over 30 different rare epilepsy syndromes responded to the survey. (epilepsy.com)
  • Compared to other epilepsies (either occurring in children or adults), rare epilepsy syndromes have a higher number of co-occurring conditions. (epilepsy.com)
  • Future studies will examine how treatment can impact the outcomes and prognosis of comorbid conditions in people living with rare epilepsy syndromes. (epilepsy.com)
  • The condition causes jerking (infantile spasms), a type of childhood seizure. (medlineplus.gov)
  • Seek emergency care if the infant is having spasms or a seizure. (medlineplus.gov)
  • 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)
  • Awty had started showing infantile spasms, an extremely dangerous form of seizure. (chivecharities.org)
  • An epileptic syndrome is a disorder that manifests one or more specific seizure types and has a specific age of onset and a specific prognosis. (clinicalgate.com)
  • In general, seizure type is the primary determinant of the type of medications the patient is likely to respond to, and the epilepsy syndrome determines the type of prognosis one could expect. (clinicalgate.com)
  • However, cognitive dysfunction, language impairment, and atypical evolutions with adverse seizure and neurodevelopmental outcomes were rarely seen in this syndrome. (medlink.com)
  • 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)
  • Sandhu PS, Khong K, McGahan JP, Ro K, Lloyd WC 3rd, Towner D. Novel presentation of Aicardi syndrome with agenesis of the corpus callosum and an orbital cyst. (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)
  • Aicardi syndrome is a neurodevelopmental disorder that affects primarily females. (nih.gov)
  • citation needed] Those with Aicardi syndrome develop normally during the first months, but later various symptoms appear due to the syndrome's characteristic malformations in the brain. (wikipedia.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)
  • The syndrome is named after the French child neurologist Jean Dennis Aicardi, who in 1965 described it in eight girls. (wikipedia.org)
  • This rare epilepsy disorder that almost always affects females, is primarily defined by the underdevelopment of the corpus callosum area of the brain, holes in the pigmented part of the eye, and infantile spasms. (aicardisyndromefoundation.org)
  • Aicardi syndrome is a rare disorder. (medlineplus.gov)
  • Aicardi syndrome is thought to be an X-linked dominant disorder lethal to males. (medscape.com)
  • Cowden syndrome-1 is a hamartomatous disorder characterized by macrocephaly, facial trichilemmomas, acral keratoses, papillomatous papules, and an increased risk for the development of breast, thyroid, and endometrial carcinoma. (nih.gov)
  • Because features of BRRS and Cowden syndrome have been found in individuals within the same family with the same PTEN mutation, Cowden syndrome-1 and BRRS are considered to be the same disorder with variable expression and age-related penetrance (summary by Marsh et al. (nih.gov)
  • Aicardi Syndrome is a disorder that occurs almost exclusively in females, leading to lifelong difficulties. (chivecharities.org)
  • Idiopathic epilepsy is an epilepsy syndrome that is genetic or presumed genetic and in which there is no underlying disorder affecting development or other neurologic function (e.g., petit mal epilepsy). (clinicalgate.com)
  • Symptomatic epilepsy is an epilepsy syndrome caused by an underlying brain disorder (e.g., epilepsy secondary to tuberous sclerosis). (clinicalgate.com)
  • A cryptogenic epilepsy (also termed presumed symptomatic epilepsy ) is an epilepsy syndrome in which there is a presumed underlying brain disorder causing the epilepsy and affecting neurologic function, but the underlying disorder is not known. (clinicalgate.com)
  • Study of Selected X-Linked Disorders: Aicardi Syndrome. (medscape.com)
  • Neurocutaneous syndromes are a group of neurologic (brain, spine, and peripheral nerve) disorders that can cause cutaneous (skin) manifestations, such as tumors that grow inside the brain, spinal cord, organs, skin, and skeletal bones. (epilepsy.com)
  • 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)
  • Aicardi syndrome: an epidemiologic and clinical study in Norway. (medscape.com)
  • 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)
  • 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)
  • Infantile spasms in remission may reemerge as intractable epileptic spasms. (epilepsia.su)
  • Aicardi syndrome may occur with other brain defects. (medlineplus.gov)
  • Cerebellar migration defects in aicardi syndrome: an extension of the neuropathological spectrum. (medscape.com)
  • Some patients with Cowden syndrome may have immune system defects resulting in increased susceptibility to infections (summary by Browning et al. (nih.gov)
  • Glasmacher MA, Sutton VR, Hopkins B, Eble T, Lewis RA, Park Parsons D. Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children. (medscape.com)
  • In 2012, he came to another conference and shared his findings of using medical cannabis with Dravet syndrome. (haleyismyhero.com)
  • 7. Aicardi J. Aicardi syndrome: old and new findings. (epilepsia.su)
  • The survey's findings suggest that for those diagnosed with a rare epilepsy syndrome, co-occurring conditions should be screened for and considered in diagnosis, management, and multidisciplinary care. (epilepsy.com)
  • Aicardi syndrome is a non-progressive condition and in itself does not lead to any deterioration, but various complications mean that there is an increased mortality among girls with the syndrome. (wikipedia.org)
  • The syndrome is probably caused by a change (mutation) in one or more genes on the short arm of the X chromosome (Xp22), but which gene or genes are mutated is not yet (2015) known. (wikipedia.org)
  • The individual boys with the syndrome described have also had the sex chromosome abnormality XXY syndrome (Klinefelter syndrome). (wikipedia.org)
  • Girls, who have two X chromosomes, can be born with the syndrome, because their second (normal) X chromosome compensates to some extent for the mutated gene. (wikipedia.org)
  • Non-random X chromosome inactivation in Aicardi syndrome. (medscape.com)
  • Because Aicardi is a congenital syndrome, it is often first recognized during the neonatal period and infancy. (medscape.com)
  • The term "benign" was applied to this syndrome to differentiate it from other sinister causes for focal epilepsies. (medlink.com)
  • 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)
  • Self-limited epilepsy with centrotemporal spikes (SeLECTS) is the new name for the previous epilepsy syndrome of benign epilepsy with centrotemporal spikes. (medlink.com)