Q: What are the characteristics of dysgenesis of the corpus callosum?
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A: Dysgenesis of the corpus callosum is the most common congenital disability of the brain, representing a failure of the callosal commissural fibers to cross the midline and form connections between the two cerebral hemispheres. It may be complete (agenesis) or partial. The condition may be associated with genetic inheritance - especially trisomies 18 and 13, maternal alcohol use during pregnancy, maternal phenylketonuria, infection, or injury to a fetus during the 12th to 24th week.
Q: Which are the conditions and syndromes associated with dysgenesis of the corpus callosum?
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A: The two most common intracranial abnormalities associated with corpus callosum dysgenesis are interhemispheric cyst with hydrocephalus and Dandy-Walker malformation. Other associated conditions are basal cell nevus syndrome, Apert syndrome, Joubert syndrome, Lyon syndrome, Aicardi syndrome, Andermann syndrome, Chiari malformation, holoprosencephaly, schizencephaly, and spina bifida.
Q: How is the clinical presentation of dysgenesis of corpus?
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A: Patients with dysgenesis of the corpus callosum may present with subtle or severe cognitive disorders. Symptoms can range from minor intelligence issues to severe impairments with developmental delays and seizures, depending on the presence of any other associated abnormalities. Patients may present mental retardation, vision abnormalities, speech difficulties, feeding problems, seizures, impaired hand-eye coordination, socio-behavioral disorders, and craniofacial anomalies. The signs are often present during the first two years of life, but mild cases may be asymptomatic and not noticed for many years.
Q: What are the radiographic features of agenesis of the corpus callosum?
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A: The radiographic features of agenesis of the corpus callosum are: -Absence of the corpus callosum, and the septum pellucidum; -wide interhemispheric fissure, with the sulci reaching the roof of the high-riding third ventricle in a radial pattern due to lack of cingulate gyrus, giving “sunray” appearance in the midsagittal plane; -parallel orientation and widely spaced bodies of lateral ventricles with small anterior horns - the “racing car” sign on axial images; -dilatation of the occipital horns and trigones of the lateral ventricles with a “teardrop” configuration on axial scans, known as colpocephaly; -the “Viking helmet” or “Moose head” signs made by the narrowed and elongated frontal horns of lateral ventricles due to bundles of Probst on coronal images; -dilatation of the temporal horns due to hippocampal hypoplasia.
Q: What is the treatment for dysgenesis of the corpus callosum?
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A: Treatment for corpus callosum dysgenesis includes anti-seizure medications, physical therapy, speech therapy, shunt in the brain in the case of hydrocephalus, special education, and genetic counseling.