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Agenesis of the corpus callosum (ACC) is a rare birth defect in which there is a complete or partial absence of the corpus callosum. It occurs when the development of the corpus callosum, the band of white matter connecting the two hemispheres in the brain , in the embryo is disrupted.
This happens as a result of partial or complete absence of the corpus callosum. Corpus callosum is the band of white matter connecting the two cerebral hemispheres. The corpus callosum plays an extremely important role in interhemispheric communication, thus lack of or absence of these neural fibers results in a number of disabilities. [12]
The males (all infants) had partial corpus callosum agenesis, severe intellectual disabilities, developmental delays, and epilepsy. The disorder first manifested right after birth, with recurrent seizures occurring hours after it. Out of these 5 babies, 3 had died. Post-mortem examination of one of the dead infants revealed chemical and ...
Andermann syndrome, also known as agenesis of corpus callosum with neuronopathy (ACCPN), Charlevoix disease and KCC3 axonopathy among other names, [1] is a very rare neurodegenerative genetic disorder that damages the nerves used to control muscles and related to sensation and is often associated with agenesis of the corpus callosum.
Agenesis of the corpus callosum (ACC) is a rare congenital disorder that is one of the most common brain malformations observed in human beings, [30] in which the corpus callosum is partially or completely absent. ACC is usually diagnosed within the first two years of life, and may manifest as a severe syndrome in infancy or childhood, as a ...
Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal lacunes, and epileptic seizures in the form of infantile spasms. [2] Other malformations of the brain and skeleton may also occur.
Acrocallosal syndrome (also known as ACLS) is an extremely rare autosomal recessive syndrome characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and intellectual disabilities, and other symptoms. [3] The syndrome was first described by Albert Schinzel in 1979. [4]
Ventriculomegaly is also known to be associated with other malformations such as agenesis of the corpus callosum, spina bifida, and heart defects. Fetuses with both isolated ventriculomegaly and with other anomalies have an increased risk of having a chromosomal abnormality, including that of Down syndrome. [3] [5]