Results 21 to 30 of about 7,462 (203)

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

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 Med
We 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.
europepmc   +2 more sources

Lissencephaly and cerebellar hypoplasia in a goat [PDF]

Ciência Rural, 2013
A case of lissencephaly and cerebellar hypoplasia was observed in a 30-day-old goat. The goat presented with sternal recumbence, absence of a menace response, intention tremors, ataxia, and nystagmus.
José Rômulo Soares dos Santos, Antônio Flavio Medeiros Dantas, Clarice Ricardo Macedo Pessoa, Tatiane Rodrigues Silva, Sara Vilar Dantas Simões, Franklin Riet Correa, Daniel Pedrosa   +6 more
doaj   +2 more sources

Lissencephaly: Causal Heterogeneity

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
doaj   +2 more sources

Lissencephaly: EEG and Evoked Potentials

Pediatric Neurology Briefs, 1992
The EEGs and evoked potentials were studied in 21 Dutch patients with lissencephaly type I at the Departments of Clinical Neurophysiology and Neurology, Juliana Children’s Hospital, The Hague, The Netherlands.
J Gordon Millichap
doaj   +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

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

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   +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

Characteristics of symptomatic epilepsy and other neurological disorders in children with lissencephaly

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, I. V. Ochrim, V. R. Kasumov, O. V. Guzeva, V. V. Guzeva, N. E. Maksimova   +5 more
doaj   +2 more sources