Polymicrogyria Author : Doctor Laurent VILLARD
نویسندگان
چکیده
Keywords Disease name and synonyms Diagnosis criteria / definition Differential diagnosis Frequency Clinical description Management including treatment Etiology Diagnostic methods Genetic counseling Antenatal diagnosis References Abstract Polymicrogyria (PMG) is a cerebral cortical malformation characterized by excessive cortical folding and by shallow sulci. Microscopic examination reveals abnormal cortical layering. Topographic distribution of PMG is variable, but bilateral symmetrical perisylvian PMG (BPP) is the most frequent form. PMG is manifested by mild mental retardation, epilepsy, and pseudobulbar palsy, which causes difficulties with speech learning and feeding. The severity of PMG is highly dependent on the location and size of the affected area. Most cases are sporadic, but familial forms have been reported, and they appear to follow all the possible inheritance patterns. Two genetic forms of polymicrogyria have been identified: bilateral perisylvian on chromosome X (Xq28) and bilateral frontoparietal on chromosome 16, which is caused by mutations in the GPR56 gene. There are also non-genetic forms of PMG, which are caused by cytomegalovirus intrauterine infections and defects in placenta perfusion. The incidence of the different PMG forms is unknown, but the frequency of cortical dysplasia in general is estimated to be 1 in 2500 newborns. No treatment is available but the seizures can be treated using anti-epileptic drugs.
منابع مشابه
A locus for bilateral perisylvian polymicrogyria maps to Xq28.
Polymicrogyria (PMG) is one of a large group of human cortical malformations that collectively account for a significant percentage of patients with epilepsy, congenital neurological deficits, and intellectual disability. PMG is characterized by an excess of small gyri and abnormal cortical lamination. The most common distribution is bilateral, symmetrical, and maximal, in the region surroundin...
متن کاملGPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.
GPR56 mutations cause an autosomal recessive polymicrogyria syndrome that has distinctive radiological features combining bilateral frontoparietal polymicrogyria, white matter abnormalities and cerebellar hypoplasia. Recent investigations of a GPR56 knockout mouse model suggest that bilateral bifrontoparietal polymicrogyria shares some features of the cobblestone brain malformation and demonstr...
متن کاملTruncation of NHEJ1 in a patient with polymicrogyria.
Polymicrogyria (PMG) is a common malformation of the human cerebral cortex for which both acquired and genetic causes are known. Although genetic heterogeneity is documented, only one gene is currently known to cause isolated PMG. To clone new genes involved in this type of cerebral malformation, we studied a fetus presenting a defect of cortical organization consisting of a polymicrogyric cort...
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تاریخ انتشار 2004