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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.
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 ...
The corpus callosum is essential to the communication between the two hemispheres. [2] A recent study of individuals with agenesis of the corpus callosum suggests that the corpus callosum plays a vital role in problem solving strategies, verbal processing speed, and executive performance. Specifically, the absence of a fully developed corpus ...
A variety of brain abnormalities are also associated with 13q deletion. They can include epilepsy, craniosynostosis (premature closing of the skull bones), spastic diplegia, cerebral hypotrophy, underdevelopment or agenesis of the corpus callosum, cerebellar hypoplasia, deafness, and, rarely, hydrocephalus, Dandy–Walker syndrome, and spina ...
The research focus of her laboratory to study the development of the cortical midline in animal models and in human tissue. [3] In particular, she is involved in researching a phenomenon where the corpus callosum is absent (agenesis) or disformed (dysgenesis) in the developing brain. [ 4 ]
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.