نتایج جستجو برای: pachygyria
تعداد نتایج: 105 فیلتر نتایج به سال:
Polymicrogyria is a relatively common but poorly understood defect of cortical development characterized by numerous small gyri and a thick disorganized cortical plate lacking normal lamination. We show an association between bilateral asymmetrical polymicrogyria and mutations in a -tubulin gene, , in four patients and a 27 GW (gestational week) fetus. de novo β TUBB2B Neuropathological examina...
We read with interest the recent paper by Barkovich and Peck describing MR features of Zellweger syndrome (ZS) (1). All six patients in their series had impaired myelination, diffusely abnormal cortical gyri, and germinolytic cysts on MR imaging. Specifically, these abnormalities consisted of diminished myelination, microgyria (particularly in the frontal and perisylvian regions), pachygyria (p...
Classical lissencephaly (smooth brain) or generalized agyria-pachygyria is a severe brain malformation which results from an arrest of neuronal migration at 9-13 weeks gestation. It has been observed in several malformation syndromes including Miller-Dieker syndrome (MDS) and isolated lissencephaly sequence (ILS). A gene containing beta-transducin like repeats, now known as LIS1, was previously...
Congenital cytomegalovirus infection affects about 1% of the live-born infants. Around 10% of children with congenital infection at birth have apparent disease, being symptomatic. The most common and prognostically unfavourable clinical sign is microcephaly, reflects disturbed brain development. We present brain magnetic resonance imaging findings of the girl performed at the age of 7 days, 12 ...
we report an unusual case of hemimegalencephaly (hmg) associated with ipsilateral congenital-infiltrating lipomatosis of the face in a five-month-old boy. hemimegalencephaly is a rare but unique malformation characterized by enlargement of all or parts of a cerebral hemisphere. the affected hemisphere may have focal or diffuse neuronal migration defects, with areas of polymicrogyria, pachygyria...
Migration anomalies are congenital malformations caused by insults to migrating neuroblasts during the third to fifth gestational months. Included in this group are agyria, pachygyria, polymicrogyria, unilateral megalencephaly, schizencephaly, and gray matter heterotopias. Patients who have these conditions present clinically with developmental delay and seizures, and abnormal motor skills are ...
Reelin is an extracellular matrix-associated protein important in the regulation of neuronal migration during cerebral cortical development. Point mutations in the RELN gene have been shown to cause an autosomal recessive human brain malformation termed lissencephaly with cerebellar hypoplasia (LCH). Recent work has raised the possibility that reelin may also play a pathogenic role in other neu...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید