Results 21 to 30 of about 1,803 (152)

Septo-optic dysplasia plus syndrome in a 2-year-old child: A case report [PDF]

Radiology Case Reports
Septo-optic dysplasia (SOD) is a rare congenital condition characterized by a triad of septum pellucidum dysgenesis, optic nerve hypoplasia, and hypothalamic-hypophyseal dysfunction.
Sara Essetti, Chaymae Faraj, Fatima Chait, Sara Ez-Zaky, Nazik Allali, Siham El Haddad, Latifa Chat   +6 more
doaj   +2 more sources

Fetal Brain Abnormalities Following Laser Surgery for Twin-to-Twin Transfusion Syndrome: Imaging Patterns and Evolution. [PDF]

Prenat Diagn
ABSTRACT Introduction Severe brain injury has been reported following fetoscopic laser ablation (FLA) for twin‐to‐twin transfusion syndrome (TTTS), but imaging patterns and temporal evolution remain poorly defined. This study aimed to characterize the progression of severe brain injury after FLA. Methods We conducted a retrospective case series of TTTS
Kunpalin Y, Miller E, Larsen I, Raghuram K, Windrim C, Abbasi N, Ryan G, Mieghem TV, Shinar S.   +8 more
europepmc   +2 more sources

Prenatal Diagnosis of Recurrent Fetal Intracranial Hemorrhage and a Maternally Inherited COL4A1 Variant of Uncertain Significance: A Case Report With Maternal Reverse Phenotyping. [PDF]

Clin Case Rep
ABSTRACT A 33‐year‐old woman with two consecutive pregnancies affected by fetal left periventricular germinal matrix hemorrhage (Grade IV) and progressive ventriculomegaly underwent trio whole‐exome sequencing. A heterozygous COL4A1 c.4249G>C (p.Gly1417Arg) variant, classified as a variant of uncertain significance, was identified in the fetus of the ...
Shi W, Xu H, Pu C, Liang Y, Zhao T, Wang X, Liu Z, Zhang C, Li T, He F.   +9 more
europepmc   +2 more sources

Cortical Clefts and Cortical Bumps: A Continuous Spectrum [PDF]

Journal of Clinical and Diagnostic Research, 2016
Cortical ‘clefts’ (schizencephaly) and cortical ‘bumps’ (polymicrogyria) are malformations arising due to defects in postmigrational development of neurons.
Asthik Biswas, Farha Furruqh, Suresh Thirunavukarasu, Ravichandran Vivekandan   +3 more
doaj   +1 more source

Morphological patterns of fetal lateral ventricular border irregularities: descriptive study. [PDF]

Ultrasound Obstet Gynecol
ABSTRACT Objectives Alterations in the lateral ventricular borders have been documented in the prenatal diagnosis of certain fetal brain conditions. This study aimed to describe and classify the morphological patterns of lateral ventricular border irregularities (LVBI) and to discuss possible etiologies.
Hadi E, Sorotzkin A, Haddad L, Kassif E, Hoffmann C, Shrot S, Shoob S, Shariv A, Mizrachi Y, Levy M, Leibovitz Z, Lerman-Sagie T, Gindes L.   +12 more
europepmc   +2 more sources

Epilepsy-associated open-lip schizencephaly with arachnoid cyst: a rare case report

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2023
Background Schizencephaly is a rare congenital cerebral malformation characterized by clefts in the cerebral cortex. The traction effect and splitting of leptomeninges caused by schizencephaly potentially formed an arachnoid cyst.
Patricia Hapsari, Celia, Chand Nagpal, Andre, Ronny, Robert Shen   +5 more
doaj   +1 more source

Traumatic epidural hematoma in a patient with severe schizencephaly

Clinical Case Reports, 2021
Schizencephaly is a rare congenital brain structural abnormality that is not clearly understood and has no specific treatment yet. Therefore, cases related to it should be added to the literature.
Van Trung Hoang, The Huan Hoang, Vichit Chansomphou, Dung Tien Doan   +3 more
doaj   +1 more source

A case of closed‐lip schizencephaly with absent septum pellucidum in an adult presenting with seizure disorder

Clinical Case Reports, 2023
Key Clinical Message To rule out underlying developmental brain defects such as schizencephaly, pediatric seizures necessitate a thorough examination. Adults who receive a diagnosis later in life may face severe management and prognosis difficulties.
Chhabi Khadka, Umang Gupta, Prakriti Bhandari, Prabin Pandey, Shailes Paudel   +4 more
doaj   +1 more source

Schizencephaly [PDF]

, 2013
Schizencephaly is a rare malformation of cortical development characterized by congenital clefts extending from the pial surface to the lateral ventricle that are lined by heterotopic gray matter.
Chang, Bernard S, Barkovich, A James, Walsh, Christopher A, Hisama, Fuki M, Barry, Brenda, Bodell, Adria, Dies, Kira A, Guo, Chao-Yu   +7 more
core   +1 more source

Diverse Genetic Etiologies of Unilateral Polymicrogyria. [PDF]

Ann Neurol
Objective Polymicrogyria (PMG) is one of the most common human malformations of cortical development and is often classified by its radiographic pattern of distribution. Unilateral polymicrogyria (uPMG) is a subtype of PMG affecting a portion or all of one cerebral hemisphere.
Lai A, Neil JE, Akula SK, Amrom D, Andermann E, Bergin A, Caraballo R, Chen AY, Gaitanis J, Mochida GH, Gotoff JM, Kuchukhidze G, Marom D, ElAchkar CM, Regev M, Rodan LH, Olson H, Zhang B, Poduri A, Shao DD, Walsh CA, Yang E.   +21 more
europepmc   +2 more sources