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Agenesis of the Corpus Callosum Reviewed 07-01-2001 Get Web page suited for printing Email this to a friend or colleague Studies with patients Table of Contents (click to jump to sections) What is Agenesis of the Corpus Callosum?Is there any treatment? What is the prognosis? What research is being done? Organizations What is Agenesis of the Corpus Callosum? Agenesis of the corpus callosum (ACC) is a rare congenital abnormality in which there is a partial or complete absence (agenesis) of the corpus callosum. The corpus callosum is the area of the brain which connects the two cerebral hemispheres. In most patients, ACC is diagnosed within the first two years of life. It may occur as a severe syndrome in infancy or childhood, as a milder condition in young adults, or as an asymptomatic incidental finding. The first symptoms of ACC are usually seizures, which may be followed by feeding problems and delays in holding the head erect, sitting, standing, and walking. The seizures may be caused by a very common disorder called infantile spasms, which is associated with ACC. There may be impairments in mental and physical development, hand-eye coordination, and visual and auditory memory. Hydrocephaly may also occur. In mild cases, symptoms such as seizures, repetitive speech, or headaches may not appear for years. Female children may also have a specific syndrome, Aicardi's syndrome, in addition to ACC and infantile spasms, in which there is severe mental retardation and chorioretinal lacunae (lesions of the retina of the eye). ACC may occur as an isolated condition or in combination with other cerebral anomalies including Arnold-Chiari malformation and Dandy-Walker syndrome, Andermann syndrome (with progressive neuropathy), schizencephaly, holoprosencephaly, and migrational anomalies. ACC is also sometimes associated with complex multi-system malformations and with several chromosomal anomalies, including trisomy 13 and 18. There are non-nervous system malformations that may occur both with and without chromosomal aberrations such as midline facial defects. Is there any treatment? What is the prognosis? What research is being done? March of Dimes Birth Defects Foundation
National Organization for Rare Disorders (NORD)
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