Search results for "Pachygyria"
showing 4 items of 4 documents
Lissencephalic syndromes: brain and beyond
2009
Lissencephaly has been long maintained a malformation involving only the brain. Classic lissencephaly includes agyria and pachygyria and it is the most severe form of malformations derived from abnormal neuronal migration. It is defined as a smooth or nearly smooth cerebral surface with absence of normal sulci and gyria. It encompasses a group of syndromes which show many different clinical conditions. Four groups are actually distinguished: classic lissencephaly variants, other lissencephalies including forms with unknown pathogenesis, microlissencephaly spectrum and Cobblestone cortical malformations. Several genes and proteins are involved in this syndromic spectrum and each year new mol…
Baraitser-Winter cerebrofrontofacial syndrome : Delineation of the spectrum in 42 cases
2015
International audience; Baraitser-Winter, Fryns-Aftimos and cerebrofrontofacial syndrome types 1 and 3 have recently been associated with heterozygous gain-of-function mutations in one of the two ubiquitous cytoplasmic actin-encoding genes ACTB and ACTG1 that encode beta- and gamma-actins. We present detailed phenotypic descriptions and neuroimaging on 36 patients analyzed by our group and six cases from the literature with a molecularly proven actinopathy (9 ACTG1 and 33 ACTB). The major clinical anomalies are striking dysmorphic facial features with hypertelorism, broad nose with large tip and prominent root, congenital non-myopathic ptosis, ridged metopic suture and arched eyebrows. Iris…
Gyrification from constrained cortical expansion
2014
The exterior of the mammalian brain - the cerebral cortex - has a conserved layered structure whose thickness varies little across species. However, selection pressures over evolutionary time scales have led to cortices that have a large surface area to volume ratio in some organisms, with the result that the brain is strongly convoluted into sulci and gyri. Here we show that the gyrification can arise as a nonlinear consequence of a simple mechanical instability driven by tangential expansion of the gray matter constrained by the white matter. A physical mimic of the process using a layered swelling gel captures the essence of the mechanism, and numerical simulations of the brain treated a…
A case report on dental management of a toddler with Pachygyria
2017
Children with special health care needs receive less oral care than the normal population, inspite of the high level of dental diseases among them. They are at an increased risk for oral diseases throughout their lifetime. This paper reports a case of a toddler with congenital unusual thick convolutions of the cortex resulting in a condition called pachygyria. Intra oral examination showed multiple abscesses with poor oral hygiene. As the patient was lacking cooperative ability, treatment of full mouth rehabilitation as needed. The parents were advised for regular dental check-ups and informed about maintenance of good oral hygiene. This case report demonstrates the importance of oral hygie…