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MRI and CT scans of patients demonstrate abnormally thick gray matter with thin poorly myelinated white matter. 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 ...
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.
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 ...
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (often referred to by its acronym SPATCCM) is a rare autosomal recessive disease caused by mutations in the SLC1A4 gene encoding the ASCT1 protein.
X-linked complicated corpus callosum dysgenesis is a genetic disorder characterized by dysplasia, hypoplasia or agenesis of the corpus callosum alongside variable intellectual disability and spastic paraplegia. [2] Only 13 cases (all male) have been described in medical literature. [3] Transmission is X-linked recessive. [4]
Hypoplasia of the corpus callosum, often in conjunction with other major malformations, is significantly associated with poor and delayed developmental outcome. [4] ONH is often referred to as septo-optic dysplasia, a term that refers to agenesis of the septum pellucidum. It is now clear that the absence of the septum pellucidum does not ...
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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]