Results 41 to 50 of about 41,619 (198)

Displasia septo-óptica plus: reporte de caso para revisar y reconocer esta entidad

Biomédica: revista del Instituto Nacional de Salud
La displasia septo-óptica es una afección neurológica congénita de etiología multifactorial caracterizada por agenesia del septum pellucidum, disgenesia del cuerpo calloso o ambas, hipoplasia del quiasma o nervios ópticos y disfunción hormonal con ...
Alexander Reyes, Julieth Galvis, Yilver Estupiñán   +2 more
doaj   +1 more source

Cerebral Ventriculomegaly With Abnormality of the Aqueduct of Sylvius: A Case Series

Clinical Genetics, EarlyView.
Genetic testing leads to a diagnostic rate of ~30% in a fetal cohort with cerebral ventriculomegaly where the neuropathological examination revealed a stenosis or atresia of the aqueduct of Sylvius. ABSTRACT Fetal cerebral ventriculomegalies are brain anomalies with potentially poor neurodevelopmental prognosis.
Romain Nicolle, Laurence Loeuillet, Bettina Bessieres, Lucile Boutaud, Sarah Grotto, Nicolas Bourgon, Maryse Bonniere, Jelena Martinovic, Aude Tessier, Nathalie Roux, Giulia Petrilli, Naima Talhi, Marion Lesieur‐Sebellin, Jérémy Bertrand, Anaïs L'haridon, Aurélie Coussement, Marie‐Laure Maurin, Marie‐Paule Beaujard, Valérie Malan, Férechté Razavi, Tania Attie‐Bitach   +20 more
wiley   +1 more source

Cavum septum pellucidum: Significance and management

National Journal of Clinical Anatomy, 2019
Cavum septum pellucidum (CSP) is a cystic midline brain malformation; it is mostly congenital but can also be acquired. CSP is mostly asymptomatic. Symptomatic CSP is very rare.
Santanu Bora, Amit Purushottam Tirpude, Manisha Gaikwad, Rabi N Sahu, Lalsangzuala Chinzah, Babita Kujur, Arpan Haldar   +6 more
doaj   +1 more source

Foraminal subependymal nodules and subependymal giant cell astrocytoma in children with tuberous sclerosis

Developmental Medicine &Child Neurology, EarlyView.
We studied 128 TSC referred to our tertiary centre between 2012 and 2024, with at least one brain imaging before 18 years, before neurosurgical or mTOR inhibitor treatment, and at least one fSEN. Median age at first and last imaging was 3 years 2 months and 12 years. Longitudinal fSEN evolution with age identified three growth patterns: non‐growing (71%
Sofia Ferri, Sara Cabet, Nicole Chemaly, Jacques Laschet, Thomas Blauwblomme, Nathalie Boddaert, Rima Nabbout   +6 more
wiley   +1 more source

Congenital and acquired lesions of the septum pellucidum

, 2008
The septum pellicidum is a thin midline brain structure the function of which is poorly understood. Despite its small size, it is the site of a considerable number of anatomical variants, congenital anomalies, and acquired lesions.
Scoffings, D J, Kurian, K M
core   +1 more source

Optic nerve hypoplasia and septo‐optic‐pituitary dysplasia

Developmental Medicine &Child Neurology, EarlyView.
Optic nerve hypoplasia and septo‐optic‐pituitary dysplasia. Abstract The presence of a small optic disc on funduscopy is prerequisite for the diagnosis of optic nerve hypoplasia (ONH). Visual acuity may be normal. However, amblyopia can occur in ONH. A relative afferent pupillary light defect indicates unilateral or asymmetrical ONH.
Michael S. Salman
wiley   +1 more source

Cavum septum pellucidum humano

Acta Neurológica Colombiana, 2006
El presente trabajo resume los aspectos más relevantes sobre el cavum septum pellucidum humano, desde lo estructural y funcional, así como sus principales aspectos clínicos a tener en cuenta en la práctica médica.
Jorge Eduardo Duque Parra., Alejandro Vera González   +1 more
doaj   +2 more sources

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, Volume 200, Issue 12, Page 2601-2607, December 2026.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source

The Ultrastructure and Immunohistochemistry of the Septum Pellucidum in Man

, 2000
The Ultrastructure and Immunohistochemistry of the Septum Pellucidum in Man”, Scripta Scientifica Medica, Vol. 32 Supplement 1, 54, 2000.
Ulutaş Uğur, Yeşim
core   +1 more source

Pathogenicity of NUSAP1 Variants Is Defined by NMD‐Escape: Evidence From Two Novel Cases and Systematic Population‐Based Variant Analysis

Clinical Genetics, Volume 110, Issue 6, Page 768-774, December 2026.
Heterozygous de novo nonsense variants in the penultimate and last exons of NUSAP1 were identified in two unrelated individuals, predicted to escape NMD. In population data, nonsense variants were observed in exons 1–9 (of 11) in NUSAP1 but were absent from its 3′‐terminal region.
Maureen Jacob, Susann Badmann, Stefania Bigoni, Maria Iascone, Ilaria Vivaldi, Katharina Mayerhanser, Robert Kopajtich, Holger Prokisch, Cristina Forest, Sebastian Eck, Michael Zech, Elisabeth Graf, Matias Wagner, Juliane Winkelmann, Theresa Brunet, Melanie Brugger   +15 more
wiley   +1 more source