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Louis Georges Maillard, Laura Tassi, Fabrice Bartolomei, Hélène Catenoix, François Dubeau, William Szurhaj, Philippe Kahane, Anca Nica, Petr Marusic, Ioana Mindruta, Francine Chassoux, Georgia Ramantani
OBJECTIVE: We aimed to (1) assess the concordance between various polymicrogyria (PMG) types and the associated epileptogenic zone (EZ), as defined by stereoelectroencephalography (SEEG), and (2) determine the postsurgical seizure outcome in PMG-related drug-resistant epilepsy. METHODS: We retrospectively analyzed 58 cases: 49 had SEEG and 39 corticectomy or hemispherotomy. RESULTS: Mean age at SEEG or surgery was 28.3 years (range, 2-50)...
November 2017: Annals of Neurology
Kyung Yeon Lee, Eunsim Shin
PURPOSE: Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay. METHODS: We included 27 children who fulfilled the following criteria: Korean children under 6 years with global developmental delay; children who had at least one or more physical or neurological problem other than global developmental delay; and patients in whom both array CGH and G-banded karyotyping tests were performed...
September 2017: Korean Journal of Pediatrics
Usha D Nagaraj, Robert Hopkin, Mark Schapiro, Beth Kline-Fath
The coexistence of band heterotopia and polymicrogyria is extremely rare though it has been reported in the presence of corpus callosum anomalies and megalencephaly. We present prenatal and postnatal MRI findings of a rare case of diffuse cortical malformation characterized by polymicrogyria and band heterotopia. Agenesis of the corpus callosum and megalencephaly were also noted. In addition, bilateral closed-lip schizencephaly was identified on postnatal MRI, which has not been previously reported with this combination of imaging findings...
September 2017: Radiology Case Reports
Callie Alt, Michael I Shevell, Chantal Poulin, Bernard Rosenblatt, Christine Saint-Martin, Myriam Srour
We retrospectively reviewed the clinical and radiologic characteristics of 17 individuals with septo-optic dysplasia (SOD) and attempted to identify correlations between imaging findings, clinical features, and neurodevelopmental outcome. Surprisingly, only 1 (6%) individual was classified as classic SOD (with septum pellucidum/corpus callosum dysgenesis), 3 (18%) as SOD-like (with normal septum pellucidum/corpus callosum) and the majority, 13 (76%), as SOD-plus (with cortical brain malformation). Cortical abnormalities included schizencephaly, polymicrogyria, and gray matter heterotopias...
January 1, 2017: Journal of Child Neurology
Lidia M Nagae, Justin M Honce, Eric Nyberg, Steven Ojemann, Aviva Abosch, Cornelia N Drees
BACKGROUND AND PURPOSE: MR-guided laser interstitial thermal therapy (MRgLITT) is an increasingly popular neuroablative method for the surgical treatment of epilepsy patients. This article intends to demonstrate the utility and pitfalls of imaging in the context of patient care with MRgLITT. MATERIAL AND METHODS: A retrospective review of the medical records and imaging database with six illustrative cases selected to demonstrate the use of imaging throughout patient management with MRgLITT in diverse clinical situations and pathologies...
May 2017: Journal of Neuroimaging: Official Journal of the American Society of Neuroimaging
Yoshiyuki Kobayashi, Nobutsune Ishikawa, Hiroo Tani, Yuji Fujii, Masao Kobayashi
Background Eating epilepsy (EE) is a rare form of reflex epilepsy in which seizures are induced by eating. It is known that most patients with eating seizures, in fact, suffer from symptomatic temporal lobe epilepsy (TLE), whereas only a few patients with epileptic spasms induced by eating (E-ES) have been reported. Patient Description The patient was an 8-year-old girl whose magnetic resonance imaging (MRI) of the head detected dysgenesis of the corpus callosum, cerebellar hypogenesis, marked cerebral asymmetry, broad polymicrogyria, periventricular heterotopia, and closed lip-type schizencephaly...
April 2017: Neuropediatrics
Luca Bartolini, Amy Kao, Ashley Zachery, Jonathan G Murnick, William D Gaillard
No abstract text is available yet for this article.
January 10, 2017: Neurology
Yoshiichi Abe, Atsuko Matsuduka, Kazuo Okanari, Hiroaki Miyahara, Mitsuhiro Kato, Satoko Miyatake, Hirotomo Saitsu, Naomichi Matsumoto, Maeda Tomoki, Kenji Ihara
Patients with COL4A1 mutation-related disorders demonstrate a variety of disease phenotypes, which caused by small-vessel dysfunction in the brain, eyes, kidney, muscle, or heart. The involvement of organs mainly depends on the expression of the COL4A1 gene. Complication or dysfunction of the alveolar tissue has not been reported in the literature on COL4A1 mutation-related disorders. We herein report the case of a boy with schizencephaly, renovascular hypertension, and retinal arteriosclerosis of unknown origin, who suffered from severe and repetitive alveolar hemorrhage at 9 years of age...
March 2017: European Journal of Medical Genetics
Sepideh Sefidbakht, Sakineh Dehghani, Maryam Safari, Homeira Vafaei, Maryam Kasraeian
BACKGROUND: Magnetic resonance imaging (MRI) is gradually becoming more common for thorough visualization of the fetus than ultrasound (US), especially for neurological anomalies, which are the most common indications for fetal MRI and are a matter of concern for both families and society. OBJECTIVES: We investigated fetal MRIs carried out in our center for frequency of central nervous system anomalies. This is the first such report in southern Iran. MATERIALS AND METHODS: One hundred and seven (107) pregnant women with suspicious fetal anomalies in prenatal ultrasound entered a cross-sectional retrospective study from 2011 to 2013...
August 2016: Iranian Journal of Pediatrics
Joshua Greenstein, Will Panzo, Daniel Klein, Joshua Bock, Barry Hahn
No abstract text is available yet for this article.
March 2017: Journal of Emergency Medicine
Asthik Biswas, Farha Furruqh, Suresh Thirunavukarasu, Ravichandran Vivekandan
Cortical 'clefts' (schizencephaly) and cortical 'bumps' (polymicrogyria) are malformations arising due to defects in postmigrational development of neurons. They are frequently encountered together, with schizencephalic clefts being lined by polymicrogyria. We present the case of an eight-year-old boy who presented with seizures. Imaging revealed closed lip schizencephaly, polymicrogyria and a deep 'incomplete' cleft lined by polymicrogyria not communicating with the lateral ventricle. We speculate that hypoperfusion or ischaemic cortical injury during neuronal development may lead to a spectrum of malformations ranging from polymicrogyria to incomplete cortical clefts to schizencephaly...
July 2016: Journal of Clinical and Diagnostic Research: JCDR
Shrikant V Rege, Harshad Patil
Schizencephaly is an extremely rare developmental birth defect characterized by abnormal slits or clefts in the cerebral hemispheres extending from the lateral ventricle to the cerebral cortex. The margins of the cleft are lined with heterotropic, dysplastic gray matter. The causes of schizencephaly are heterogeneous and include teratogens, prenatal infarction/infections, maternal trauma, or EMX2 mutations. This condition is present at birth and manifests early in life.
April 2016: Journal of Pediatric Neurosciences
Harvey B Sarnat, Laura Flores-Sarnat
After sagittal division of the prosencephalon at 4.5 weeks of gestation, the early fetal cerebral hemisphere bends or rotates posteroventrally from seven weeks of gestation. The posterior pole of the telencephalon thus becomes not the occipital but the temporal lobe as the telencephalic flexure forms the operculum and finally the lateral cerebral or Sylvian fissure. The ventral part is infolded to become the insula. The frontal and temporal lips of the Sylvian fissure, as well as the insula, all derive from the ventral margin of the primitive telencephalon, hence may be influenced by genetic mutations with a ventrodorsal gradient of expression...
October 2016: Pediatric Neurology
Yuri Nagai, Ayataka Fujimoto, Tohru Okanishi, Hironao Motoi, Sotaro Kanai, Takuya Yokota, Hideo Enoki, Mitsuyo Nishimura, Takamichi Yamamoto
PURPOSE: To perform an epilepsy surgery on a patient with drug resistant epilepsy secondary to bilateral brain malformation. The patient was a 2-year 9-month-old boy who had congenital bilateral multiple abnormalities. He developed a complex partial seizure at 9 months old. Based on the presurgical evaluations, he underwent a right hemispherotomy. RESULTS: Brain MRI revealed congenital bilateral polymicrogyria, right schizencephaly, and corpus callosum agenesis...
2016: Epilepsy & Behavior Case Reports
Samhita Panda
No abstract text is available yet for this article.
May 2016: Neurology India
Enighe W Ugboma, C E Agi
Schizencephaly is a congenital condition characterized by cerebrospinal fluid-filled clefts that extend from the pia surface of the cerebral hemisphere to the ependymal surface of the ventricle. Magnetic resonance imaging is the modality of choice for its diagnosis. Very few cases have been described in the literature in this environment. Here, we present an 18-month-old male child who presented in a tertiary hospital in Port Harcourt, Rivers State in Nigeria with 6 months history of recurrent seizures. A cranial MRI done revealed that he had right unilateral opened lip schizencephaly...
January 2016: Nigerian Postgraduate Medical Journal
Junmei Zhang, Zhiquan Yang, Zhuanyi Yang, Xinghui He, Yonghong Hou, Yanjin Wang
Schizencephaly is a rare malformation of cortical development resulting from cell migration defects that occur unilaterally or bilaterally. The type of the schizencephalic cleft can be open lip or closed lip. Patients suffering from refractory seizures secondary to schizencephaly should be considered for surgical treatment. In this paper, we retrospectively analyzed two patients with confirmed schizencephaly and intractable seizures. The evaluation methods included a medical history assessment, a neurological examination and magnetic resonance imaging (MRI)...
July 2016: Neurological Sciences
Arminda Neves, Fausto Carvalheira, Joana Campos, Pedro Alfaiate, António Campos, João Paulo, Castro Sousa
PURPOSE: To report a case of a 56-year-old male with right homonymous hemianopia. METHODS: Retrospective descriptive study of a case report based on information from clinical records, patient observation and analysis of complementary diagnostic tests. RESULTS: An asymptomatic 56-year-old male presented to our hospital for a routine ophthalmic examination. The best-corrected visual acuity was 20/20 in the right eye (RE) and in the left eye (LE)...
January 2016: Case Reports in Ophthalmology
Robert Smigiel, Magdalena Cabala, Aleksandra Jakubiak, Hirofumi Kodera, Marek J Sasiadek, Naomichi Matsumoto, Maria M Sasiadek, Hirotomo Saitsu
BACKGROUND: A clinical case is described of growth retardation, severe developmental delay, facial dysmorphic features with microcephaly, as well as congenital cataract, schizencephaly, periventricular calcifications, and epilepsy. METHODS: TORCH infection was suspected, but all tests for toxoplasmosis, rubella, cytomegalovirus, and herpes simplex virus were negative for the child and her mother; however, an increased level of antibodies against parvovirus B19 was detected in the proband...
April 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
Elizabeth Hanson, Niels Christian Danbolt, Chris G Dulla
Developmental cortical malformations (DCMs) are linked with severe epilepsy and are caused by both genetic and environmental insults. DCMs include several neurological diseases, such as focal cortical dysplasia, polymicrogyria, schizencephaly, and others. Human studies have implicated astrocyte reactivity and dysfunction in the pathophysiology of DCMs, but their specific role is unknown. As astrocytes powerfully regulate glutamate neurotransmission, and glutamate levels are known to be increased in human epileptic foci, understanding the role of astrocytes in the pathological sequelae of DCMs is extremely important...
May 2016: Neurobiology of Disease
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