Aicardi syndrome genetic and rare diseases information center. Other symptoms may include epilepsy, intellectual disability, profound muscle weakness hypotonia, an abnormally small head microcephaly, abnormally small eyes microphthalmia, an incomplete development of the retina and nerve in the back of the eye colobomas, andor abnormalities of. Aicardi syndrome nord national organization for rare. Seizures beginning in infancy infantile spasms, that may. Almost all reported cases of aicardi syndrome have been in girls. In 1965, a french neurologist, dr jean dennis aicardi, described 8 children with infantile spasminflexion, total or partial agenesis of the corpus callosum, and variable ocular abnormalities. A subgroup of infants with ags present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Dennis and bower 1972 described a female patient who, in addition to infantile spasms, mental subnormality, specific chorioretinopathy, and split brain, had evidence of heterotopia of the brain by pneumoencephalogram, vertebral anomalies, and characteristic eeg changes. Danica aicardi syndrome using her pacer gait trainor duration.
Actual frequency of the condition is not known, but about 14% of cases of infantile spasms from tertiary referral centers may be due to aicardi syndrome. Aicardi syndrome typically begins as involuntary muscle spasms between four months and four years of age. Aicardi syndrome is distinct from aicardigoutieres syndrome, which is an inherited encephalopathy that affects newborn infants. Top 25 questions of aicardi syndrome discover the top 25 questions that someone asks himselfherself when is diagnosed with aicardi syndrome aicardi syndrome forum. However, after ct diagnosis, as in our patient, additional anatomic details could be shown in the sagittal, frontal, and transverse mr images. Aicardi syndrome is a rare xlinked disorder that has been characterized classically by agenesis of the corpus callosum, seizures, and the finding of chorioretinal lacunae. The few boys that have been identified with aicardi syndrome have proved to have 47 chromosomes including an xxy sex chromosome complement, a condition called klinefelter syndrome. Donations to the aicardi syndrome foundation can be made either by mailing a check to. Outcomesresolutions the prognosis for individuals with aicardi syndrome greatly varies depending on the types and severity of symptoms present.
Aicardi syndrome 2,3 consists of infantile spasms, eye defects mainly chorioretinal lacunae, white holes and agenesis of the corpus callosum and is almost entirely confined to girls. A rare genetic malformation syndrome characterized by retinal abnormalities, seizures, and partial or complete absence of the corpus callosum. Complete or partial absence of the nerve tissue that allows the right and left sides of the brain to communicate corpus callosum. Aicardi syndrome is a rare genetic disorder characterized by the triad of. There are at least 6 sets of twins that are discordant for aicardi syndrome, and one known set. The condition can also be associated with optic nerve colobomas and microphthalmos. Please use one of the following formats to cite this article in your essay, paper or report. This clinical scenario, already reported in 1949, was recognized as an. Aicardi syndrome is an xlinked dominant condition that is only seen in females as it is lethal in males. It is characterized by the triad of round, depigmented chorioretinal lacunae, agenesis of the corpus collosum, and infantile spasms.
Become golden ambassador answering these questions. Aicardi syndrome information page national institute of. Help others answering the top 25 questions of aicardi syndrome. Your support helps fund our mission to better the quality of life for children affected by aicardi syndrome through awareness and research. The trip database provides clinical publications about evidence. Aicardi syndrome is an extremely rare genetic disorder that predominately affects females.
There is no cure for aicardi syndrome nor is there a standard course of treatment. This disorder causes the following characteristics. Nearly all known cases occur in people with no history of the disorder in their family sporadic. The severity of the syndrome and the associated signs and symptoms vary from person to person. If an internal link intending to refer to a specific person led you to this page, you may wish to change that link by adding the persons given names to the. Due to the genetic nature of aicardi syndrome, no known methods of prevention exist.
Aicardi syndrome as, originally described briefly in 1965 aicardi et al. Neurologic examination can reveal microcephaly, axial hypotonia, and appendicular hypertonia with spasticity. A genetic disorder characterized by the partial or complete agenesis of the corpus callosum the structure that links the 2 hemispheres of the brain, infantile spasms a characteristic form of childhood seizures, mental retardation, and an ocular eye abnormality called chorioretinal lacunae in which there are lacunae holes in the retina of the eye. In this condition, the structure that connects the two sides of the brain called the corpus callosum is partly or completely missing. Aicardi syndrome was classically characterized by a triad of features. However, it is now well recognized that several other important findings are typically present in girls with aicardi syndrome. The total number of published cases is also difficult to establish, due to difficulties. What is aicardi syndrome aicardi syndrome foundation.
Aicardi syndrome genetic and rare diseases information. Treatment generally involves medical management of seizures and programs to help parents and. World map of aicardi syndrome find people with aicardi syndrome through the map. Aicardi syndrome top 25 questions aicardi syndrome map. First recognized as a distinct syndrome in 1965 by jean aicardi, a french neurologist. Up to now, three cases of aicardi syndrome have been reported in mr literature 9, 10.
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