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In addition to agenesis of the corpus callosum, similar conditions are hypogenesis (partial formation), dysgenesis (malformation), and hypoplasia (underdevelopment, including too thin). Other studies have also linked possible correlations between corpus callosum malformation and autism spectrum disorders. [32] [33]
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.
Split-brain or callosal syndrome is a type of disconnection syndrome when the corpus callosum connecting the two hemispheres of the brain is severed to some degree. It is an association of symptoms produced by disruption of, or interference with, the connection between the hemispheres of the brain.
An example is commissural disconnect in adults which usually results from surgical intervention, tumor, or interruption of the blood supply to the corpus callosum or the immediately adjacent structures. Callosal disconnection syndrome is characterized by left ideomotor apraxia and left-hand agraphia and/or tactile anomia, and is relatively rare.
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. [1] [2] [3 ...
This condition is caused by X-linked recessive mutations in the L1CAM gene, located in the long arm of the X chromosome. [3] Mutations involved in the milder variants of L1 syndrome (including X-linked complicated corpus callosum dysgenesis) usually work by changing the L1 protein structure. [4]
When the corpus callosum is missing or not formed properly, it can lead to many dysfunctions throughout the body including hypothermia and hyperhidrosis. [4] Agenesis of the corpus callosum has been found in 40% of Shapiro syndrome cases reported. [4] It is theorized that Shapiro syndrome develops based on genetic factors. [1]
Individuals with this condition usually have the following symptoms: [1] One-sided coronal craniosynostosis; Multiple suture synostosis; Agenesis of the corpus callosum that can either be complete or partial; Polysyndactyly, preaxial type; Hand/foot syndactyly; Pearl-white areas in the skin that are prone to scarring and suffer from atrophy