National Institutes of Health, Bethesda,
Maryland 20892
May 1996
DESCRIPTION: 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, and/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. 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 associated 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.
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TREATMENT: There is no standard course of treatment for ACC. Treatment usually involves management of symptoms such as hydrocephaly and seizures if they occur.
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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.
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RESEARCH: 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.
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These articles, available from a medical library, may provide more in-depth information on ACC:
Lassonde, M, Sauerwein, H, McCabe, N, Laurencelle, L, and Geoffroy, G. "Extent and Limits of Cerebral Adjustment to Early Section or Congenital Absence of the Corpus Callosum." Behavioral Brain Research, 30:2; 165-181 (1988).
Schaefer, GB, Shuman, R, Wilson, D, Saleeb, S, Domek, D, Johnson, S, and Bodensteiner, J. "Partial Agenesis of the Anterior Corpus Callosum: Correlation Between Appearance, Imaging, and Neuropathology." Pediatric Neurology, 7:1; 39-44 (1990).
Serur, D, Jeret, JS, and Wisniewski, K. "Agenesis of the Corpus Callosum: Clinical, Neuroradiological and Cytogenetic Studies." Neuropediatrics, 19:2;87-91 (1988).
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Information may also be available from the following organizations:
Agenesis of the Corpus Callosum Network
86 N. Main Street
Orono, ME 04473
(207) 866-2062
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-8923
(203) 746-6518
(800) 999-6673
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or NINDS Publications Page
Last Updated: May 13, 1997
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
