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Cerebellar hypoplasia was present in neonates 1 and 2 (Figure 1, panel E) and pachygyria in neonate 3 (Figure 1, panel F).
The findings in the brain included focal minimal parasagittal and parietal pachygyria, glioneuronal heterotopias, neuronal migrational abnormalities, hypomyelination of central white matter, and mineralizing lenticulostriate vasculopathy with focal gliosis in basal ganglia and thalamus.
Diffuse cortical malformations: agyria, pachygyria, polymicrogyria, microcephaly, megalencephaly, microdysgenesis.
Some wide gyri were present in the parieto-occipital regions, compatible with pachygyria (Figure 3).
About the diagnosis, this essay was constituted by Rasmussen syndrome (n = 1; 9%), Sturge-Weber syndrome (n = 1; 9%); cortical dysplasia (n = 5; 45%), hemimegalencephaly (n = 2; 18%), porencephaly (n = 1; 9%) and pachygyria (n = 1; 9%).
Grade II lissencephaly is characterized by diffuse agyria with few shallow sulci over the frontal, temporal or occipital lobes and diffuse pachygyria (DOBYNS &TRUWIT, 1995).
Third group was of congenital malformations which include pachygyria, holoprosencephaly, dandy walker variant, hydrocephalus and agenesis of corpus callosum.
The affected hemisphere may show focal or diffuse neuronal migration defects, with areas of polymicrogyria, pachygyria and heterotopia.
ACC is often associated with other anomalies such as Chiari II malformation with abnormal development of cerebellar vermis and medulla oblongata, which tend to descend into the foramen magnum, usually accompanied by myelomeningocele, basilar type encephalocele and disorders of neural migration (which occurs concurrently in human brain development) such as schizencephaly, lissencephaly, pachygyria, marked neuronal heterotopias [1-3, 7,15].
Pachygyria which is a nonspecific finding in patients with MCPH1 mutation was also present in our patient.
PACHYGYRIA is a rare developmental disorder resulting from abnormalities in the brain and nervous system.
recently used whole exome sequencing to determine that several distinct types of malformations of cortical development, including microcephaly, pachygyria with cortical thickening, and hypoplasia of the corpus callosum, were all associated with recessive mutations in a single gene, WDR62 (Nature 2010;467:207-10).
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