نتایج جستجو برای: pachygyria
تعداد نتایج: 105 فیلتر نتایج به سال:
Malformations of the cerebral cortex are often causes epilepsy. The latest changes in their classification summarized. description lissencephaly and Miller–Dicker syndrome, pachygyria, polymicrogyria, hemimegaloencephaly, holoprosencephaly, schizencephaly, gray matter heterotopia is given. features epilepsy these diseases described. Magnetic resonance imaging scans for focal cortical dysplasia,...
Dandy-Walker malformation is characterised by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. Approximately 70-90% of patients have hydrocephalus. Lissencephaly is characterised by absence (agyria) or incomplete development (pachygyria) of the gyri of the cerebral cortex, causing the brain's surface to appear un...
Schizencephaly is a rare malformation of the central nervous system. Both genetic and non-genetic etiologies like prenatal infections or ischemia have been postulated. Clinical manifestations most often include varying degrees of developmental delay, motor impairment and seizures. It can be associated with septo-optic dysplasia (SOD), optic nerve hypoplasia and absence of septum pellucidum, pac...
We report an 8-year-old proband with severe motor and intellectual disability presenting a variety of dysmorphic features such as microcephaly, prominent glabella (ridged metopic suture) and congenital distal limb contractures. As well as panhypopituitary insufficiency, brain defects, e.g. agenesis of corpus callosum, colpocephaly, and pachygyria as well as strabismus and tracheo-laryngeal hypo...
Subcortical band heterotopia (SBH) or double cortex syndrome is a neuronal migration disorder, which occurs very rarely in males: to date, at least 110 females but only 11 in males have been reported. The syndrome is usually associated with mutations in the doublecortin (DCX) (Xq22.3-q23) gene, and much less frequently in the LIS1 (17p13.3) gene. To determine whether the phenotypic spectrum, th...
A five month girl with extreme microcephaly and complex brain malformation is reported. Magnetic resonance imaging (MRI) revealed bilateral thickened smooth cortex with diffuse agyria-pachygyria spectrum, agenesis of corpus callosum, bilateral hypoplastic cerebellar hemispheres and ventriculomegaly with Dandy-Walker malformation. By adding our case in the list of similar case reports by László ...
PURPOSE To evaluate abnormalities of the cerebral operculum in infants and children and to propose the embryogenic basis of abnormal opercular formation as determined from MR imaging findings. METHODS Eighty-six infants and children who had abnormally wide interopercular distances and/or distorted opercular topography seen on MR images were studied retrospectively. Clinically, patients presen...
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