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Articles » NINDS Agenesis of the Corpus Callosum Information Page: NINDS
 

NINDS Agenesis of the Corpus Callosum Information Page: NINDS

Article title: NINDS Agenesis of the Corpus Callosum Information Page: NINDS

Conditions: Agenesis of the Corpus Callosum


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?
There is no standard course of treatment for ACC. Treatment usually involves management of symptoms such as hydrocephaly and seizures if they occur.

What is the prognosis?
ACC does not cause death in the majority of patients. Although many children with the disorder will lead normal lives and have average intelligence, careful neuropsychological testing reveals subtle differences in higher cortical function compared to individuals of the same age and education without ACC. Children with ACC accompanied by developmental delay and/or seizure disorders should be screened for metabolic disorders. Mental retardation is nonprogressive.

What research is being done?
The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and, thus, offers hope for new means to treat and prevent developmental brain disorders, including ACC.

 Organizations

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
resourcecenter@modimes.org
http://www.modimes.org/
Tel: 914-428-7100 888-MODIMES (663-4637)
Fax: 914-428-8203

National Organization for Rare Disorders (NORD)
P.O. Box 8923
(100 Route 37)
New Fairfield, CT 06812-8923
orphan@rarediseases.org
http://www.rarediseases.org/
Tel: 203-746-6518 800-999-NORD (6673)
Fax: 203-746-6481

This fact sheet is in the public domain. You may copy it.Provided by:
The National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892


 

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