Prenatal Diagnosis of Autosomal Recessive Primary Microcephaly Type 2 Caused by Compound Heterozygous WDR62 Variants in a Family With Two Recurrent Cases. [PDF]
Mol Genet Genomic MedWe report prenatal diagnosis of MCPH2 via trio‐WES, identifying novel compound heterozygous WDR62 variants. To our knowledge, prenatal MRI detection of lobar HPE and lissencephaly with the agyria–pachygyria complex has not been reported in fetuses with WDR62 variants. Consequently, these findings have advanced our understanding of prenatally detectable
Li YF, Zhang SH, Zhen L, Zhang LZ.
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MRI-based spectral analysis of fetal brain gyrification in typical development and in lissencephaly and polymicrogyria [PDF]
Scientific ReportsCortical gyrification is a key marker of fetal brain development and is typically assessed qualitatively on ultrasound or MRI. While previous quantitative approaches have characterized gestational trajectories in typically developing (TD) fetuses, only a
Bossmat Yehuda +6 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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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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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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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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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
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Clinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre. [PDF]
Int J Dev NeurosciChildren with congenital Zika syndrome followed at a neurorehabilitation centre demonstrated severe neurological impairment characterized by microcephaly, cortical malformations, intracranial calcifications and multifocal epileptiform activity. Integrated clinical, neuroimaging and video‐electroencephalographic (EEG) findings highlight the extensive ...
Rodrigues ASR +5 more
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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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GENOTYPE-PHENOTYPE CORRELATION IN CASES WITH LISSENCEPHALY SPECTRUM
Sabiad, 2022 Objective: In this study, we aimed to evaluate six cases diagnosed with lissencephaly in terms of the genotype-phenotype correlation. Materials and Methods: Six cases with lissencephaly, which were followed up in our outpatient clinic, were included in ...
Ayça Dilruba Aslanger +4 more
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