نتایج جستجو برای: cerebral dysgenesis
تعداد نتایج: 184386 فیلتر نتایج به سال:
A 46-year-old man with cerebral palsy presented with complex partial seizures and left sided clonic movements. EEG showed right hemispheric seizures (figure 1). MRI demonstrated dysgenesis of the corpus callosum (figure 2, A and B) with hyperintense signal throughout the right cortex in diffusion-weighted imaging (DWI) (figure 2C) corresponding with decreased apparent diffusion coefficient sign...
Callosal dysgenesis implies a malformation of the corpus callosum with origins in the embryogenesis of the telencephalon. A retrospective review of 15 cases of callosal dysgenesis revealed three distinct categories: agenesis (three subjects), hypogenesis (nine subjects), and hypoplasia (three subjects). The basis of this distinction rests upon considerations of neural tube closure, formation an...
OBJECTIVE To describe the central nervous system (CNS) alterations present in a sample of oculo-auriculo-vertebral spectrum (OAVS) patients, trying to correlate them with other clinical features. METHOD Seventeen patients with diagnosis of OAVS were evaluated. All presented radiological evaluation of the CNS, normal GTG-Banding karyotype and clinical features involving at least two from the f...
Submicroscopic deletion of the terminal part of the short arm of chromosome 6, including 6p25, leads to developmental retardation, hearing impairment, ocular dysgenesis, and dysmorphic features. We diagnosed 3 patients referred because of white matter abnormalities of unknown origin. MR imaging showed multifocal areas of abnormal signal and enlarged perivascular spaces in the cerebral white mat...
Background: Gonadal dysgenesis, the most common cause of primary amenorrhea, is characterized by absent or underdeveloped ovaries. Although the coexistence of gonadal dysgenesis and Mayer-Rokitansky-Küster-Hauser (MRKH) has been reported, it is still quite infrequent. To the extent that authors searched, just one study reported the association between Rokitansky sequence and Dandy-Walker malfor...
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