Coexisting Congenital Mesoblastic Nephroma and Lissencephaly: Unique Case Report with Pathological Analysis and Its Clinical Significance [PDF]
BiomedicinesBackground: Congenital mesoblastic nephroma represents 3–10% of all pediatric renal tumors. With the advancement of ultrasound diagnostics and magnetic resonance imaging, the diagnosis of this renal neoplasm is increasingly being established prenatally ...
Hristina Zakić +5 more
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TUBGCP2 variants cause lissencephaly spectrum disorders: a case report and literature review [PDF]
Frontiers in PediatricsBackgroundTUBGCP2 variants are associated with the LIS spectrum disorders, but its pathogenesis remains unclear. To retrospectively analyze the clinical features and genetic information of patients having lissencephaly spectrum disorders associated with ...
Tao Yu, Miao Yu, Xueyan Liu, Hua Wang
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Prenatal diagnosis of lissencephaly: A case report [PDF]
Vojnosanitetski Pregled, 2016 Introduction. Lissencephaly (“smooth brain”) forms a major group of brain malformations due to abnormal neuronal migration. It can cause severe intellectual and motor disability and epilepsy in children.
Cerovac Nataša +5 more
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Cobblestone lissencephaly (Type II), clinical, and neuroimaging: A case report and literature review [PDF]
Radiology Case ReportsCobblestone lissencephaly (C-LIS) (TYPE II) is a rare and severe neuronal migration disorder characterized by a smooth brain surface with overmigrated neurons and abnormal formation of cerebral convolutions or gyri during fetal development, resulting in ...
Praveen K. Sharma, MD +4 more
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Lissencephaly with subcortical band heterotopia in an East African child: A case report [PDF]
Radiology Case ReportsLissencephaly is a rare neuronal migration defect that results in a smooth cerebral surface, mental retardation, and seizures. It is diagnosed primarily by correlating clinical manifestations with MRI findings. We present a case of a 3-year-old girl with
Elisamia Ngowi +4 more
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A de novo microdeletion involving PAFAH1B (LIS1) related to lissencephaly phenotype
Data in Brief, 2015 Lissencephaly is a type of the congenital malformation of the brain. Due to the impairments of neuronal migration, patients show absence of brain convolution manifesting smooth brain surfaces.
Keiko Shimojima +2 more
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Brain Pathways in LIS1-Associated Lissencephaly Revealed by Diffusion MRI Tractography [PDF]
Brain Sciences, 2023 Lissencephaly (LIS) is a rare neurodevelopmental disorder with severe symptoms caused by abnormal neuronal migration during cortical development. It is caused by both genetic and non-genetic factors.
Alpen Ortug +5 more
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Nonprimary Cytomegalovirus Fetal Infection [PDF]
Revista Brasileira de Ginecologia e Obstetrícia, 2016 Cytomegalovirus (CMV) is the most common congenital viral infection, causing hearing, visual and psychomotor impairment. Preexisting maternal CMV immunity substantially reduces, but not eliminates, the risk of fetal infection and affectation.
Sofia Rodrigues +3 more
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eLife, 2020 Type I lissencephaly is a neuronal migration disorder caused by haploinsuffiency of the PAFAH1B1 (mouse: Pafah1b1) gene and is characterized by brain malformation, developmental delays, and epilepsy.
Tyler G Ekins +6 more
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Total callosotomy ameliorates epileptic activity and improves cognitive function in a patient with Miller-Dieker syndrome [PDF]
Epilepsy & Behavior ReportsMiller-Dieker syndrome (MDS) is characterized by facial abnormalities and lissencephaly and is caused by a microdeletion in the region containing the LIS1 gene at chromosome 17p13.3.
Masataka Fukuoka +9 more
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