aicardi syndrome…

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corpus callosum, the brain, aicardi syndrome, rare genetic disorder characterized by infantile spasms, jerking, absence, the corpus callosum, connection between the two hemispheres, the brain, mental retardation, lesions, the retina, the eye, optic nerve, aicardi syndrome is unknown at this time, presumed to be a genetic disorder, carried on the x-chromosome a random, sporadic mutation in others, less than 500 cases of aicardi worldwide, children, most commonly diagnosed, aicardi syndrome between the ages of three months, five months, they meet the following criteria, female sex, xxy genotype male, retinal lacunae, lesions, the retina, seizures, beginning, infantile spasms, a type of epileptic disorder in infants, absence, the corpus callosum, complete, partial, classic criteria remain the cornerstone of diagnosis in most patients, in rare cases, the features, lack of development, the corpus callosum, missing, diagnosis, made in such cases, two, the criteria below, abnormal formations, in the brain, microgyria, bumps on the brain, abnormally narrow, periventricular, subcortical heterotopia, a misplacement of groups of neurons, in the brain sometimes found in seizure disorders, cysts around the 3rd ventricle, choroid plexuses cysts in specific areas, the brain, papillomas of choroid plexuses, a benign, non-cancerous tumor found, specific section, the brain, optic disc, nerve coloboma, a congenital notch, in the optic nerve, occasional findings, abnormal ribs, spine, microphthalmia, a condition where eyes smaller than normal, eye abnormalities, coloboma, cat's eye, "split-brain" eeg, dissociated suppression-burst tracing, gross asymmetry, large size differences between the two halves, the brain, an eye exam, performed to confirm retinal involvement, occasional findings, the eye exam, micropthalmia, coloboma, degree, level of vision, from normal to blind, ct scan, the head, mri of head, confirm lack of development, the corpus callosum, brain cysts, brain abnormalities, eeg, help determine the type, severity of seizures, procedures, tests performed depending on individual health concerns, primarily involves medical management of seizures, health concerns, continuing intervention programs, therapies, developmental delays, aicardi syndrome newsletter was established in 1984 by the mother of a daughter, aicardi syndrome, provide information, families due, extremely rare nature of this disorder, publications, bimonthly newsletter brief, 2 to 3 large digests annually, distributed to member families worldwide, newsletter has also published yearbooks, family directories, 2 medical-model surveys of affected daughters, contact, denise parsons, 1510 polo fields court, louisville, ky 40245.502, 244-9152, e-mail, aicnews@aol, com, aicardi syndrome foundation, a, s, f, not-for-profit, tax-exempt organization, incorporated in 1991, working in cooperation, the aicardi syndrome newsletter, foundation is funded by private donations, various fundraising events, a, s, f, has contributed financially to research, aicardi syndrome, provides funds, the purchase of medical, adaptive equipment, affected daughters, publication, distribution, the newsletter, biannual aicardi family international conferences, contact, al, cindy meo, 450 winterwood drive, roselle, il 60172, 1-800-374-8518, e-mail, aicardi@aol, com, found, aicardi syndrome web site, aicardisyndrome, prognosis, widely depending upon the affected child's overall health, severity of symptoms, nearly all have severe learning difficulties, a few have some language abilities, walk independently, many remain totally dependent, care, known age range of affected children is from birth to 30 years of age, complications vary according, degree, severity of symptoms, seek emergency care, spasms in an infant, epileptic seizures.