Results 1 to 10 of about 11,896 (240)
Lissencephaly with Congenital Hypothyroidism: A Case Report
Journal of Nepal Medical Association, 2022 Lissencephaly is a malformation of cortical development associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. The lissencephaly spectrum consists of agyria, pachygyria, and subcortical band heterotopia. At
Shambhu Kumar Sahani +3 more
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Structural and Diffusion MRI Analyses With Histological Observations in Patients With Lissencephaly
Frontiers in Cell and Developmental Biology, 2019 The development of cortical convolutions, gyri and sulci, is a complex process that takes place during prenatal development. Lissencephaly, a rare genetic condition characterized by the lack of cortical convolutions, offers a model to look into ...
Lana Vasung +20 more
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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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Бюллетень сибирской медицины, 2018 Brain malformations are one of the most frequent causes of epilepsy in childhood. In patients with malformations of the brain epilepsy is diagnosed in 75–80% of cases.
V. I. Guzeva +5 more
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Lissencephaly: Causal Heterogeneity [PDF]
Pediatric Neurology Briefs, 1992 Clinical, cytogenetic and molecular studies in 65 patients with isolated lissencephaly sequence (ILS) are reported from Indiana University School of Medicine, Indianapolis; Tufts New England Medical Center, Boston; Eastern Virginia Medical School ...
J Gordon Millichap
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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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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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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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Pediatric Neurology Briefs, 1990 The diagnostic features and clinical signs of 21 patients with lissencephaly type I are reviewed from the Department of Neurology, Westeinde Hospital, The Hague, The Netherlands; the Departments of Child Neurology, Academic Medical Centre, Amsterdam, and
J Gordon Millichap
doaj +2 more sources