Results 1 to 10 of about 7,495 (203)

Coexisting Congenital Mesoblastic Nephroma and Lissencephaly: Unique Case Report with Pathological Analysis and Its Clinical Significance [PDF]

Biomedicines
Background: 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, Olivera Kontić Vučinić, Jelena Stamenković, Jovan Jevtić, Milena Perišić Mitrović, Maja Životić   +5 more
doaj   +4 more sources

Cobblestone lissencephaly (Type II), clinical, and neuroimaging: A case report and literature review [PDF]

Radiology Case Reports
Cobblestone 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, Stany Jerosha, MBBS, Sakthi Ganesh Subramonian, MBBS, Sam Raja R, MD, Karpagam RK, MBBS   +4 more
doaj   +4 more sources

TUBGCP2 variants cause lissencephaly spectrum disorders: a case report and literature review [PDF]

Frontiers in Pediatrics
BackgroundTUBGCP2 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
doaj   +4 more sources

Cytomegalovirus infection with lissencephaly [PDF]

Indian Journal of Pathology and Microbiology, 2008
Lissencephaly is a malformation of the brain in which the brain surface is smooth, rather than convoluted. Among the various causes of lissencephaly, infection by a virus during pregnancy plays an important role.
Joseph Leena, Pushpalatha, Kuruvilla Sarah   +2 more
doaj   +4 more sources

MRI-based spectral analysis of fetal brain gyrification in typical development and in lissencephaly and polymicrogyria [PDF]

Scientific Reports
Cortical 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, Rotem Gal, Yair Wexler, Aviad Rabinowich, Elka Miller, Liat Ben Sira, Dafna Ben Bashat   +6 more
doaj   +2 more sources

Fetal Presentation of Walker-Warburg Syndrome With a Novel POMT1 Splice-Altering Variant: Antenatal Imaging, Postmortem MRI, Autopsy, and Molecular Correlation. [PDF]

Clin Case Rep
ABSTRACT Walker–Warburg syndrome (WWS) is a fatal autosomal recessive disorder characterized by brain and eye malformations, and prenatal diagnosis relies heavily on neuroimaging findings to guide targeted genetic screening. Here, we describe a distinctive second‐trimester fetal imaging pattern observed in two siblings.
Zhang J, Wang P, Tian G, Hu Y, Zhang X, Huang X, Zhou X, Huang P, Chen F.   +8 more
europepmc   +2 more sources

Gene-specific long-term course, neurodevelopmental outcome and quality of life in patients with LIS1/PAFAH1B1-, DCX-, DYNC1H1-, TUBA1A- and TUBG1-related lissencephaly [PDF]

Orphanet Journal of Rare Diseases
Background Classic lissencephaly is a malformation of cortical development that includes agyria and pachygyria. The major clinical symptoms are developmental impairment, muscular hypotonia, and drug-resistant epilepsy.
Christiane R. Proepper, Lisa-Maria Schwarz, Sofia M. Schuetz, Katja von Au, Thomas Bast, Nathalie Beaud, Ingo Borggraefe, Friedrich Bosch, Melanie Busse, Jena Chung, Otfried Debus, Katharina Diepold, Thomas Fries, Gero von Gersdorff, Martin Haeussler, Andreas Hahn, Till Hartlieb, Ralf Heiming, Peter Herkenrath, Gerhard Kluger, Jonas H. Kreth, Gerhard Kurlemann, Peter Moeller, Deborah J. Morris-Rosendahl, Axel Panzer, Heike Philippi, Sophia Ruegner, Carolina Toepfer, Silvia Vieker, Adelheid Wiemer-Kruel, Anika Winter, Gerhard Schuierer, Ute Hehr, Tobias Geis   +33 more
doaj   +2 more sources

Lissencephaly with subcortical band heterotopia in an East African child: A case report [PDF]

Radiology Case Reports
Lissencephaly 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, Adil Datoo, Pilly Ally, Hajaj Salum, Kija Edward   +4 more
doaj   +2 more sources

Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea. [PDF]

JPGN Rep
Abstract Among congenital diarrhea and enteropathies (CODEs), proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is a rare monogenic disorder, associated with severe neonatal diarrhea and polyendocrinopathies. We report an 18‐day‐old male neonate, born to consanguineous parents, presenting with persistent watery diarrhea, metabolic ...
Saraceno E, Faini AC, Deaglio S, Pellegrini M, Buganza R, Giuliani F, Calvo PL, Pinon M.   +7 more
europepmc   +2 more sources

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, Anil Pathak, Bishal Nepali, Nilshan Rai   +3 more
doaj   +1 more source