Prenatal Diagnosis of Isolated Lissencephaly by Ultrasonography and Magnetic Resonance Imaging: A Case Report [PDF]
Gynecology Obstetrics & Reproductive Medicine, 2014 We present the abnormal sonographic findings in the brain of a 26-week fetus, which increased the suspicion of isolated lissencephaly. The woman had a history of prednisolone use in early pregnancy, and conceived with copper containing intra uterine ...
Mehmet Serdar Kütük +4 more
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Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 1976 SUMMARY:The first reported case of lissencephaly resulting from a consanguinous union strengthens the supposition that in some cases, it is transmitted as an autosomal recessive trait. Comparison of this case with a sporadically occuring case of lissencephaly, with different cortical morphology, suggests that lissencephaly may be an example of either ...
M G, Norman +3 more
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Hind Brain Agenesis A Rare Imaging Findings In Cerebro Cerebellar Lissencephalic Syndrome [PDF]
Journal of Clinical and Diagnostic Research, 2014 A case report of cerebro cerebellar lissencephaly shows complete agenesis of cerebellum and brainstem which is rare imaging finding of group lissencephaly (type I lissencephaly).
Praveen M. Mundaganur +2 more
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A Novel PAFAH1B1 Splicing Variant Identified in a Patient with Classical Lissencephaly
Tokyo Women's Medical University Journal, 2020 Lissencephaly is a severe brain malformation associated with abnormal formation of cerebral sulci. Until now, many genes related to lissencephaly have been identified.
Tomoe Yanagishita +5 more
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Lissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene [PDF]
, 2021 BACKGROUND: Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by neonatal diabetes mellitus (NDM), epiphyseal dysplasia, and hepatic and renal dysfunction.
Reddy, C. +7 more
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Mutations in ARX result in several defects involving GABAergic neurons [PDF]
, 2010 Genetic investigations of X-linked mental retardation have demonstrated the implication of ARX in a wide spectrum of disorders extending from phenotypes with severe neuronal migration defects, such as lissencephaly, to mild or moderate forms of mental ...
Friocourt, G. +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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Prenatal Diagnosis of Lissencephaly Associated with Biallelic Pathologic Variants in the COQ2 Gene
Acta Médica Portuguesa, 2022 Primary CoQ10 deficiency comprises several clinical phenotypes. Nevertheless, there are no reports so far of lissencephaly linked to CoQ10 deficiency. Lissencephaly is a developmental condition associated with defective neuronal migration which may be ...
Rita Rosado Santos +2 more
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Infantile spasms and developmental delay: A case of miller–Dieker syndrome
Indian Pediatrics Case Reports, 2023 Background: Miller–Dieker syndrome (MDS) is a rare genetic disorder, due to contiguous gene deletion on chromosome 17p13.3, characterized by classical type I lissencephaly, severe developmental delay, seizures, cardiac defects, and dysmorphisms.
Jewel Maria George +3 more
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Lissencephaly-A Brain Flawed [PDF]
, 2016 We present a case report of a twelve-day old child suffering from seizures, in which magnetic resonance imaging (MRI) established the diagnosis of Lissencephaly.
Gupta, Saryu, Mathur, Manoj
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