Polymicrogyria is a heterogeneous cortical malformation resulting from disruption of multiple processes of cortical development, either genetically determined or acquired. To characterize early imaging and histopathological features of incipient polymicrogyria in fetuses at early gestational age and correlate radiological patterns with underlying etiopathogenic mechanisms. Four fetuses at 21 weeks' gestational age with suspected polymicrogyria on fetal magnetic resonance imaging underwent post-mortem magnetic resonance imaging (PMMRI) and detailed neuropathological examination, including immunohistochemistry (NeuN, NSE, GFAP, MBP, CD3, CD68). Imaging and histological findings were systematically compared. Distinct imaging-histopathological patterns were identified according to etiology (ischemic, infectious, genetic). Key differentiating features included symmetry of involvement, cerebral surface appearance, integrity of the pial basement membrane, laminar pattern alterations, and associated anomalies. Combined PMMRI and neuropathology enable early characterization of polymicrogyria and provide insights into its etiopathogenesis, improving differential diagnosis and genetic counseling.
山东省济南市章丘区文博路2号
齐鲁师范学院 genelibs生信实验室
山东省济南市高新区舜华路750号
大学科技园北区F座4单元2楼
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