Agenesis of the corpus callosum (ACC) is a rare congenital disorder, resulting from developmental defects during the embryonal formation of the corpus callosum. The corpus callosum is a band of tissue connecting the two cerebral hemispheres. Its development begins during the fifth week of embryonal life, and an interruption results in either total or partial dysgenesis. The symptoms of CCA vary greatly according to the extent of dysgenesis. Generally, patients present with hypotonia, vision impairment, seizures, spasticity, motor co-ordination problems, and, abnormal facial features. Mental retardation may also be seen in some patients. ACC is also seen associated with other neurological disorders, such as Aicardi Syndrome, Andermann Syndrome, Dandy Walker Syndrome, Arnold Chiari Malformation, and Acrocallosal Syndrome.
Brain scans (MRI or CT) are the only way to confirm ACC. In fact, prenatal scans are used to identify the anomaly within the growing fetus. Unfortunately, no treatment exists for the condition. Children who show clinical features of ACC may benefit form developmental and educational therapies.
There are various theories on the pathophysiology of ACC. Although many a times, ACC is believed to result from an infection or an injury during development, it has also been postulated to be a genetic defect transmitted in an autosomal recessive or an X-linked dominant fashion. This is supported by the fact that several genetic disorders have ACC as one of their presenting features. In addition, several chromosomal loci have been found to be consistently deleted in patients with ACC. Trisomy in chromosome 18, 13, and 8 have also been reported in the condition. However, the causative gene or the exact genetic loci responsible for the condition are yet unknown.