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Introdução: Durante o desenvolvimento do encéfalo há formação de sulcos e giros que podem sofrer alterações morfológicas similarmente ao nervo facial (NC VII) que possui funções sensitivas e motoras e sua lesão pode gerar prejuízos clínicos e estéticos. Na literatura há informações sobre essas estruturas em adultos, porém pouco definidas em fetos. Objetivo: Descrever os giros e sulcos e o trajeto do NC VII em cadáveres de fetos humanos. Métodos: Selecionou-se sete fetos humanos, de ambos os sexos, do acervo do Laboratório de Anatomia da UFMS CPTL. Realizou-se três etapas: avaliação da idade fetal, dissecação e descrição anatômica. O estudo foi aprovado pelo Comitê de Ética em Pesquisa, CAEE: 75069617.5.0000.5386 2022. Resultados: observou-se na face dorsolateral sulcos frontal superior e médio e pós-central, temporal superior e inferior, circular da ínsula e central da ínsula. Há giro pré-central, pós-central, temporais, superior inferior e médio. Na face medial há sulco do cíngulo duplo, paracentral, parieto occipital e giro frontal superior. Em todos os fetos, há o tronco do NC VII e seus ramos perfurando o parênquima da glândula parótida na região infratemporal antes da divisão em ramos pela face Conclusão: A topografia dos giros e sulcos dos fetos é fundamental para identificar precocemente malformações corticais. Somado a isso, o estudo morfológico do NC VII poderá fomentar estudos futuros, haja vista que são poucos os registros a respeito das características deste nervo em fetos.
Introduction: In the development of the brain there are grooves and gyri that undergo morphological changes, similarly the facial nerve (CN VII) has sensory and motor functions and its injury generates clinical and aesthetic damage. In the literature there is information about these structures in adults, but little defined in fetuses. Objective: To describe the gyri and sulci and the course of CN VII in fetal cadavers. Methods: Seven human fetuses of both sexes were selected from the collection of the Anatomy Laboratory of the UFMS CPTL. Three steps were performed: assessment of fetal age, dissection and anatomical description. The study was approved by the Research Ethics Committee, CAEE 75069617.5.0000.5386. Results: in the studied brains, superior and medium frontal and postcentral, superior and inferior temporal, insula circular and insula central grooves were observed on the dorsolateral surface. There are precentral, postcentral, temporal, superior, inferior, and middle gyrus. On the medial surface there is the double cingulate sulcus, paracentral, parieto occipital and superior frontal gyrus. In all fetuses, there is the trunk of CN VII and its branches piercing the parotid gland parenchyma in the infratemporal region before dividing into branches across the face. Conclusion: The topography of the gyri and sulcus of fetuses is essential for early identification of cortical malformations. Added to this, the morphological study of CN VII may encourage future studies, given that there are few records regarding the characteristics of this nerve in fetuses.
Introducción: En el desarrollo del cerebro existen surcos y circunvoluciones que sufren cambios morfológicos, de igual manera el nervio facial (NC VII) tiene funciones sensoriales y motoras y su lesión genera daño clínico y estético. En la literatura existe información sobre estas estructuras en adultos, pero poco definidas en fetos. Objetivo: Describir las circunvoluciones y surcos y el curso del NC VII en cadáveres fetales. Métodos: Siete fetos humanos, de ambos sexos, fueron seleccionados de la colección del Laboratorio de Anatomía de la UFMS CPTL. Se realizaron tres pasos: evaluación de la edad fetal, disección y descripción anatómica. El estudio fue aprobado por el Comité de Ética en Investigación, CAEE 75069617.5.0000.5386. Resultados: en los cerebros estudiados, se observaron surcos en la superficie dorsolateral frontal superior y medio y poscentral, temporal superior e inferior, insular circular e insular central. Hay circunvolución precentral, poscentral, temporal, superior, inferior y media. En la superficie medial se encuentra el doble surco cingulado, paracentral, parieto occipital y giro frontal superior. En todos los fetos, el tronco del NC VII y sus ramas perforan el parénquima de la glándula parótida en la región infratemporal antes de dividirse en ramas a lo largo de la cara. Conclusión: La topografía de las circunvoluciones y surcos de los fetos es fundamental para la identificación temprana de malformaciones corticales. Sumado a esto, el estudio morfológico del NC VII puede alentar futuros estudios, dado que existen pocos registros sobre las características de este nervio en fetos.
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Objective:To investigate the significance of abnormal morphology of Sylvian fissure detected by fetal neurosonogram (NSG) in prenatal diagnosis of malformations of cortical development (MCD).Methods:This retrospective study involved fetuses with abnormal morphology of Sylvian fissure on prenatal NSG in Peking University First Hospital between January 2016 and December 2021. Clinical data including the basic information as well as the results of NSG, genetic examinations and MRI were collected. The diagnosis of MCD could be made when both brain morphological abnormalities and pathogenic/likely pathogenic genetic abnormalities were presented. The association between the abnormal morphology of Sylvian fissure and MCD was analyzed by descriptive analysis.Results:Thirteen participants who had complete genetic information were included in this study [defined as those who were found with pathogenic/likely pathogenic copy number variation (CNV) or those who further underwent whole-exome sequencing (WES) as no pathogenic/likely pathogenic CNV were detected]. Twelve fetuses (12/13) were eventually diagnosed with MCD. Pathogenic CNV were found in seven fetuses and pathogenic point mutations in five, involving six pathogenic genes and four genetic syndromes. Symmetric morphologic abnormality of Sylvian fissure was detected in 10 cases by prenatal NSG with shallow and broad shape in six and abnormal angle of Sylvian fissure in four. The other two fetuses showed asymmetric abnormal morphology of Sylvian fissure that was shallow and broad shape on one side and abnormal angle on the other. The imaging features of MCD present by prenatal NSG and were consistent with those of MRI.Conclusions:Abnormal morphology of Sylvian fissure detected by prenatal NSG is important in MCD diagnosis. Genetic examination are recommended to the fetuses with abnormal morphology of Sylvian fissure. For those requiring for genetic analysis, chromosomal microarray analysis together with WES might be an optimal choice.
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Malformations of cortical development (MCD) describe malformation lesions which are characterized by abnormal cortical structure or presence of heterotopic grey matter, sometimes associated with abnormal brain size. Recent progress in understanding the genetics and epigenetics in brain malformations has been driven by extraordinary advances in DNA sequencing technologies and DNA methylation profiling. For example, somatic mosaic mutations that activate mammalian target of rapamycin signaling in cortical progenitor cells are now recognized as the main cause of some types of MCD. In this review, the classification and genetic etiologies of MCD, especially focal cortical dysplasia, are summarized.
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Objective:To assess the ultrasonographic features and potential diseases of fetal abnormal sylvian fissure(SF), and to explore the value of whole-genome sequencing (WGS) in prenatal detection.Methods:A total of 28 fetuses with a sonographic diagnosis of abnormal SF in Shenzhen Maternal and Child Health Hospital Affiliated to Southern Medical University between October 2018 and October 2020 were prospectively included. The fetal brain was evaluated by neuroultrasound and intrauterine MRI in detail. Amniotic fluid/cord blood obtained by amniocentesis or tissue samples from umbilical cord after birth were collected for WGS. Pregnancy outcomes and postnatal MRI were recorded, and neurodevelopment of live-born infants was followed up for more than 24 months after delivery.Results:During the study period, 28 fetuses with abnormal SF were identified, with a gestational age of 21.3-30.0 (24.8±2.0) weeks. Abnormal SF presented in MCD ( n=15, 53.6%), chromosomal anomalies ( n=3, 10.7%) or single-gene genetic syndromes ( n=3, 10.7%) with the affected fetuses showing developmental delay, hydrocephalus or leukomalacia ( n=4, 14.2%), corpus callosal agenesis with large interhemispheric cysts ( n=1, 3.6%), benign subarachnoid space enlargement with arachnoid cysts ( n=1, 3.6%), and multiple malformations ( n=1, 3.6%). Among the 15 cases with MCD, the most common pathology was lissencephaly/pachygyria, followed by schizencephaly, severe microcephaly, hemimegalencephaly with paraventricular heterotopia, and polymicrogyria. Abnormal SF presented bilaterally in 23 fetuses and unilaterally in 5. All cases were categorized into six types depending on SF morphology in the transthalamic section: no plateau-like or a small insula, linear type, irregular corrugated SF, Z-shaped, and cyst occupying type. In addition to abnormal SF, associated anomalies or mild variations were identified in all fetuses. There were 17 cases underwent intrauterine MRI, and 13 cases underwent postnatal MRI examination.And 25 pregnancies were terminated; 3 were born alive, and 2 had typical syndromic changes with poor neurodevelopmental prognosis. A related pathogenic genetic variant was detected in 57.1% (16/28) fetus, and the incidence of single nucleotide variants(SNVs) was 42.9% (12/28), among which de novo SNVs accounted for 91.7% (11/12). Conclusions:Fetal abnormal SF could be classified based on the ultrasonographic features of transthalamic section. Fetal abnormal SF may indicate MCD, some chromosomal abnormalities or single-gene genetic syndromes that may lead to poor neurodevelopmental outcomes, and may be affected by extra-cortical factors. It is suggested to carry out targeted prenatal genetic diagnosis for fetuses with abnormal SF.
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Focal cortical dysplasias (FCDs) represent the third most frequent cause of drug-resistant focal epilepsy in adults (after hippocampal sclerosis and tumours) submitted to surgery, and the most common in the pediatric age group. The International League Against Epilepsy (ILAE) classification of focal cortical dysplasia is still a reference and consists of a three-tiered system: FCD type I refers to isolated abnormalities in cortical layering; FCD type II refers to cases with abnormalities in cortical architecture and dysmorphic neurons with or without balloon cells; and FCD type III refers to abnormalities in cortical layering associated with other lesions. Recent studies have demonstrated that somatic mutations occurring post-zygotically during embryonal development and leading to mosaicism, underlie most brain malformations. The molecular pathogenesis of FCD type II is associated with activation of the mTOR pathway. Pathogenic variants in this pathway are recognized in up to 63% of cases and may occur both through single activating variants in activators of the mTOR signaling pathway or double-hit inactivating variants in repressors of the signaling pathway. The newly described mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy, has been found to show recurrent pathogenic variants in SLC35A2 with mosaicism. The present review describes the lesions of FCD and discusses the molecular pathogenesis and proposal for a revised classification.
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Objective:To analyze the differences in 18F-fluorodeoxyglucose (FDG) PET/CT imaging and preoperative localization between patients with temporal lobe epilepsy (TLE) and extratemporal epilepsy (ETLE) caused by focal cortical dysplasia (FCD). Methods:From April 2015 to August 2018, a total of 71 patients (45 males, 26 females, age (24.3±9.1) years) with refractory epilepsy who underwent 18F-FDG PET/CT imaging before surgery and confirmed as FCD by pathology in Xuanwu Hospital were retrospectively analyzed. Patients were divided into TLE and ETLE groups based on pathological results. 18F-FDG PET/CT images were analyzed qualitatively and compared with the operation result, then region of interest (ROI) was used to calculate the asymmetry index (AI), and evaluated the hypometabolism of every cerebral region by |AI| semi-quantitatively. Engle classification were followed-up after surgery. Independent-sample t test and χ2 test were used to analyze data. Results:Of 71 FCD patients, 35 were TLE and 36 were ETLE. The onset age of ETLE patients were younger than TLE patients ((10.1±6.5) vs (14.9±9.7) years; t=2.48, P=0.02). In TLE group, 54.29%(19/35) were completely consistent with the operation results, and 42.86%(15/35) showed hypometabolized brain regions in extratemporal lobe. In ETLE group, 27.78%(10/36) were completely consistent with the operation results, and 47.22%(17/36) showed hypometabolized brain regions in temporal lobe. There were significant differences in the lateral accuracy and positioning accuracy of 18F-FDG PET/CT between TLE and ETLE patients (97.14%(34/35) vs 75.00%(27/36), 54.29%(19/35) vs 27.78%(10/36); χ2 values: 7.19, 6.27, both P<0.05). There was no significant difference in |AI| values between the brain regions of TLE and ETLE patients ( z values: from -1.25 to -0.06, all P>0.05). Conclusion:The lateral accuracy and positioning accuracy of 18F-FDG PET/CT in TLE patients are better than that in ETLE patients.
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The expansion and folding of the cerebral cortex occur during brain development and are critical factors that influence cognitive ability and sensorimotor skills. The disruption of cortical growth and folding may cause neurological disorders, resulting in severe intellectual disability and intractable epilepsy in humans. Therefore, understanding the mechanism that regulates cortical growth and folding will be crucial in deciphering the key steps of brain development and finding new therapeutic targets for the congenital anomalies of the cerebral cortex. This review will start with a brief introduction describing the anatomy of the brain cortex, followed by a description of our understanding of the proliferation, differentiation, and migration of neural progenitors and important genes and molecules that are involved in these processes. Finally, various types of disorders that develop due to malformation of the cerebral cortex will be discussed.
Subject(s)
Humans , Brain , Cerebral Cortex , Drug Resistant Epilepsy , Embryology , Intellectual Disability , Malformations of Cortical Development , Nervous System DiseasesABSTRACT
Focal cortical dysplasia (FCD) is the major cause of intractable focal epilepsy in childhood leading to epilepsy surgery. The overall seizure freedom after surgery ranges between 50–75% at 2 years after surgery and the long-term seizure freedom remain relatively stable. Seizure outcome after surgery depends on a various factors such as pathologic etiologies, extent of lesion, and types of surgery. Therefore, seizure outcome after surgery for FCD should be analyzed carefully considering cohorts' characteristics. Studies of pediatric epilepsy surgery emphasize the early surgical intervention for a better cognition. Early surgical intervention and cessation of seizure activity are important for children with intractable epilepsy. However, there are limited data on the cognitive outcome after surgery in pediatric FCD, requiring further investigation. This paper reviews the seizure and cognitive outcomes of epilepsy surgery for FCD in children. Several prognostic factors influencing seizure outcome after surgery will be discussed in detail.
Subject(s)
Child , Humans , Cognition , Drug Resistant Epilepsy , Epilepsies, Partial , Epilepsy , Freedom , Malformations of Cortical Development , Patient Outcome Assessment , Pediatrics , SeizuresABSTRACT
The expansion and folding of the cerebral cortex occur during brain development and are critical factors that influence cognitive ability and sensorimotor skills. The disruption of cortical growth and folding may cause neurological disorders, resulting in severe intellectual disability and intractable epilepsy in humans. Therefore, understanding the mechanism that regulates cortical growth and folding will be crucial in deciphering the key steps of brain development and finding new therapeutic targets for the congenital anomalies of the cerebral cortex. This review will start with a brief introduction describing the anatomy of the brain cortex, followed by a description of our understanding of the proliferation, differentiation, and migration of neural progenitors and important genes and molecules that are involved in these processes. Finally, various types of disorders that develop due to malformation of the cerebral cortex will be discussed.
Subject(s)
Humans , Brain , Cerebral Cortex , Drug Resistant Epilepsy , Embryology , Intellectual Disability , Malformations of Cortical Development , Nervous System DiseasesABSTRACT
Focal cortical dysplasia (FCD) is the major cause of intractable focal epilepsy in childhood leading to epilepsy surgery. The overall seizure freedom after surgery ranges between 50–75% at 2 years after surgery and the long-term seizure freedom remain relatively stable. Seizure outcome after surgery depends on a various factors such as pathologic etiologies, extent of lesion, and types of surgery. Therefore, seizure outcome after surgery for FCD should be analyzed carefully considering cohorts' characteristics. Studies of pediatric epilepsy surgery emphasize the early surgical intervention for a better cognition. Early surgical intervention and cessation of seizure activity are important for children with intractable epilepsy. However, there are limited data on the cognitive outcome after surgery in pediatric FCD, requiring further investigation. This paper reviews the seizure and cognitive outcomes of epilepsy surgery for FCD in children. Several prognostic factors influencing seizure outcome after surgery will be discussed in detail.
Subject(s)
Child , Humans , Cognition , Drug Resistant Epilepsy , Epilepsies, Partial , Epilepsy , Freedom , Malformations of Cortical Development , Patient Outcome Assessment , Pediatrics , SeizuresABSTRACT
Objective@#To investigate the clinicpathologic features and probable mechanisms of massive subcortical heterotopia.@*Methods@#Clinical data, histologic features and neuropathologic data were analyzed in five cases of massive subcortical heterotopia collected from Xuanwu Hospital, Capital Medical University from January 2014 to October 2017.@*Results@#All five patients (three males and two females) had a history of refractory epilepsy with a mean period of 15.4 years (range 7 to 21 years). The median age at surgery was 28.6 years(range 20 to 39 years). Magnetic resonance imaging showed that the lesions were located in the temporal lobe (two cases), parietal lobe (one case), both temporal and occipital lobes (one case) and both temporal and parietal lobes (one case). Pathologic examination disclosed that massive gray matter in subcortical and deep white matter with various shape and size. Moreover, one case also showed subpial and periventricular heterotopias and polymicrogyria. Polymicrogyria or hippocampal sclerosis were seen in the remaining three cases. None of the five patients experienced seizure attacks during the follow-up period.@*Conclusions@#Heterotopia is malformations due to abnormal neuronal migration. Massive subcortical heterotopia due to widespread abnormal neuronal migration is relatively rare. The mechanism of heterotopia together with polymicrogyria needs further discussion.
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Las malformaciones del desarrollo cortical son entidades relacionadas con la interrupción en el proceso de formación cortical secundarias a diferentes etimologías y se asocian con morbilidad neurológica significativa, incluyendo discapacidad intelectual, epilepsia severa y trastorno motor. El desarrollo de nuevas secuencias diagnósticas por resonancia magnética, y la implementación de su uso durante el periodo fetal permitió mejorar la identificación, caracterización y clasificación las malformaciones del desarrollo cortical. La resonancia magnética constituye uno de los pilares en el estudio de estos pacientes, sobre todo si se plantea como tratamiento de la epilepsia el quirúrgico.
Abstract Malformations of cortical development result from disruptions of the complex process of development of the cerebral cortex secondary to different etiologies. They are associated with significant neurological morbidity including sever epilepsy, developmental delay, and motor dysfunction. Currently, the development of new sequences of magnetic resonance imaging as well as their application during pregnancy have improved the identification, topography, and classification of these malformations. Magnetic resonance imaging is one of the cornerstones of the work-up of patients with epilepsy, especially when neurological treatment is contemplated.
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Pregnancy , Diagnostic Imaging , Neurodevelopmental DisordersABSTRACT
Objective To investigate the clinicopathologic features of cerebral hemisphere ulegyria in children with refractory epilepsy.Methods The clinical and pathologic findings were reviewed in 26 children who underwent resection of lesion and epileptogenic lobectomy operation in the Neurosurgery Department of Haidian Hospital,Haidian District of Peking University Third Hospital,from January 2011 to August 2015,and pathological diagnosis was cerebral hemisphere ulegyria.Results All children including 19 male and 7 female had medically intractable seizures.The mean ages of seizure onset and disease duration were 3.93 years old (from 10 days to 12 years old) and 5.42 years (from 1 month to 13 years),respectively.Eight cases had seizures because of perinatal period injury,and 12 cases developed seizures owing to infancy injury and others had no cause of disease.The mean operation age was 9.35 years old (5-14 years old).Fourteen cases underwent multilobar resection and the whole corpus callosum incision,and 12 cases were given modified anatomical cerebral hemisphere resection.The pathological diagnoses of brain tissues were cerebral hemisphere ulegyria with focal cortical dysplasia(FCD) Ⅲ d and dual pathology.Seizure outcome after the operation revealed that 19 cases (73.08％) had an Engel grade Ⅰ,3 cases (11.54％)had an Engel grade Ⅱ,2 cases (7.69％) had an Engel grade Ⅲ,and 2 cases (7.69％) missed the follow-up.Conclusions Acquired brain injury during the period of infant can cause ulegyria and cortical dysplasia,resulting in intractable epilepsy.The treatment of improved anatomical cerebral hemisphere resection and multilobar resection is significantly effective.
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Objective@#To investigate the clinicopathologic characteristics of intractable epilepsy.@*Methods@#Based on the classification criteria proposed by the International League Against Epilepsy (ILAE), a retrospective analysis of the pathological characteristics was done in 822 patients who underwent epilepsy surgery in Sanbo Brain Hospital, Capital Medical University, from June 2008 to December 2012.@*Results@#The mean age of epilepsy onset was 9.9 years, mean duration of epilepsy was 11.9 years. Complex partial seizures were the main presenting features. Histopathological study showed 33 cases (4.01%) with mild forms of cortical malformations, 690 cases (83.94%) with focal cortical dysplasia (FCD) and 99 cases with others (including 39 pure hippocampal sclerosis, 20 cystosclerosis, 19 Sturge-Weber syndrome, 8 tuberous sclerosis complex, 6 without significant pathological changes, 5 gyral malformations and 2 hamartoma). Among the 690 FCD cases, 106 were FCD typeⅠ, 91 were FCD typeⅡ and 493 were FCDⅢ(Ⅲa: 160, Ⅲb: 106, Ⅲc: 26 and Ⅲd: 201).@*Conclusions@#FCDⅢd is the most common histopathological subtype causing intractable epilepsy, mainly due to focal hypoxia/ischemia in the perinatal period, which results in scarring of local brain tissue; this is followed by other isolated forms of FCD (FCDⅠand FCDⅡ), and then FCD Ⅲa and FCD Ⅲb. The reason to distinguish isolated forms of FCD (types Ⅰ and Ⅱ) from FCD Ⅲ and to subclassify FCD Ⅲ is to allow better definition of cortical dyslamination. Therefore, the pathogenic factors of intractable epilepsy can be grouped in greater details, and facilitate the diagnosis and potential curative treatment of intractable epilepsy.
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Objective To study the clinicopathologic features of brain tumors in patients with medically intractable epilepsy. Methods The clinical, radiologic and pathologic features of brain tumors in thirty-six patients with intractable epilepsy encountered during the period from 2008 to 2014 in the Epilepsy Center of Haidian Hospital were retrospectively reviewed. Results There were 18 males and 18 females in thirty-six patients. The mean age of seizure onset and disease duration were (14.05 ± 1.67) years and (10.04 ± 1.19) years respectively. The histological types of brain tumors included ganglioglioma (12/36, WHO gradeⅠ,1/36, WHO gradeⅡ), dysembryeplastic neuroepithelial tumor (2/36, WHO gradeⅠ), pleomorphic xanthoastrocytoma (1/36, WHO gradeⅡ), angiocentric glioma (1/36, WHO gradeⅠ), astrocytoma (4/36, WHO gradeⅡ), oligoastrocytoma (1/36, WHO gradeⅡ, 2/36, WHO gradeⅠ-Ⅱ), oligodendroglioma (1/36, WHO gradeⅠ-Ⅱ,1/36, WHO grade Ⅱ), cavernous hemangioma (4/36) and Sturge-Weber syndrome (1/36). Most of these tumors were located in temporal lobe (25/36, 69.4%). Patients were followed up for 0.5-7 years after operation. One patient was lost for follow up. Seizure outcome after the epilepsy operation revealed that 28 patients (77.8%) had Engel gradeⅠ, 4 patients (11.1%) had Engel gradeⅡ,2 patients (5.6%) had Engel gradeⅢ,1 patient (2.8%) had Engel gradeⅣ. Conclusion Brain tumors in patients with medically intractable epilepsy are almost low grade tumors of the nervous system. Focal cortical dysplasia is existed in most brain tissues from the epilepsy operation. Low grade tumors of the nervous system have close relation with focal cortical dysplasia in patients with medically intractable epilepsy. It is possible that the classifications of pathology diagnosis has connection with prognosis.
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Malformations of cortical development (MCD) cover a broad spectrum of developmental disorders which cause the various clinical manifestations including epilepsy, developmental delay, and intellectual disability. MCD have been clinically classified based on the disruption of developmental processes such as proliferation, migration, and organization. Molecular genetic studies of MCD have improved our understanding of these disorders at a molecular level beyond the clinical classification. These recent advances are resulted from the development of massive parallel sequencing technology, also known as next-generation sequencing (NGS), which has allowed researchers to uncover novel molecular genetic pathways associated with inherited or de novo mutations. Although an increasing number of disease-related genes or genetic variations have been identified, genotype-phenotype correlation is hampered when the biological or pathological functions of identified genetic variations are not fully understood. To elucidate the causality of genetic variations, in vivo disease models that reflect these variations are required. In the current review, we review the use of NGS technology to identify genes involved in MCD, and discuss how the functions of these identified genes can be validated through in vivo disease modeling.
Subject(s)
Classification , Disease Models, Animal , Epilepsy , Genetic Association Studies , Genetic Variation , Intellectual Disability , Malformations of Cortical Development , Molecular BiologyABSTRACT
Las malformaciones del desarrollo cortical originan un grupo de patologías, que cursan con diversas manifestaciones las cuales marcan un grado de minusvalía significativo en quienes las padecen. La Lisencefalia es una de las alteraciones de la migración neuronal caracterizada por una corteza cerebral de superficie lisa o con pocas circunvoluciones. Este trastorno está frecuentemente asociado a epilepsias de difícil manejo. Se presenta el caso de un paciente masculino de 18 meses de edad con diagnóstico de Lisencefalia quien cursa con convulsiones tónicas generalizadas desde los 8 meses de edad. Se le realizó TAC de cráneo simple y resonancia magnética de cerebro para confirmar el diagnóstico y se dio manejo farmacológico a las convulsiones.
Malformations of cortical development originate a group of pathologies that involve diverse manifestations that mark a significant degree of disability in those who suffer from. The Lissencephaly is one of alterations in neuronal migration characterized by a smooth surface or with few convolutions in the cerebral cortex. This disorder is often associated with difficult management Epilepsies. We report the case of a male patient from 18 months of age with a diagnosis of Lissencephaly, who presents generalized tonic seizures from 8 months of age. Was performed a simple skull CT and brain magnetic resonance to confirm the diagnosis and the pharmacological management was given to seizures.
Subject(s)
Humans , Infant , Cerebral Cortex , Epilepsy , Malformations of Cortical Development , Lissencephaly , Seizures , Skull , Magnetic Resonance Spectroscopy , Diagnosis , Cerebrum , Malformations of Cortical Development, Group IIABSTRACT
Objective To investigate whether resting state-fMRI (RS-fMRI) based on local consistency (ReHo), am?plitude low-frequency fluctuate (ALFF) and fALFF can add meaningful information on preoperative localization of epilepto?genic zone in patients with malformations of cortical development (MCD). Methods Ten epilepsy patients with MCD were studied with RS-fMRI using a 3.0 T scanner. The resting state data were preprocessed and analyzed using SPM8 and REST to generate the activation map. Abnormal ReHo, ALFF and fALFF related blood oxygen level dependent (BOLD) signal changes were compared to video EEG (VEEG),PET,MRI findings and the final result of a comprehensive evaluation-de?fined epileptogenic zone. For operated patients, postoperative resection and histology were compared to BOLD responses. Re?sults The results of spike localization of RS-fMRI were consistent with VEEG, PET, MRI findings and final comprehensive evaluation-defined epileptogenic zone in 6, 8, 6, 7 of 10 investigations. Six operated patients (including two negative results of MRI examination) revealed local abnormal changes but not visible on structural MRI, which was confirmed cortical malfor?mations by pathology after operation (2 heterotopia and 4 cortical dysplasia). Conclusion RS-fMRI may help to delineate the epileptic focus in epilepsy patients with MCD.
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Objective To explore sonographic manifestation of fetal malformations of cortical development.Methods From August 2012 to January 2014 three hundred and twenty-five pregnancy women referred to our institution for fetal brain MRI,which were diagnosed or suspected of central nervous system abnormalities by prenatal ultrasound examination.Results In 325 of cases,14 cases (4％) were diagnosed of malformations of cortical development.Ten eases were indicated by prenatal ultrasound,including three cases of heterotopic gray matter,six cases of microcephaly and one case of hemimegalencephaly; four cases were missed by prenatal ultrasound,including two cases of schizencephaly,one case of tuberous sclerosis,and one case of hypoplasia.Conclusions Cortical malformations can be diagnosed by prenatal ultrasonography based on typical imaging characteristics.Prenatal ultrasound combined with MRI is a powerful tool in diagnosing fetal malformations of cortical development.
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Introducción: Las últimas técnicas de análisis de RM funcional permiten medir el cambio espontáneo de la señal BOLD en reposo. Los métodos de análisis derivados de estos estudios se dividen en: mapas de conectividad funcional y conectividad cerebral por grafos. Un grafo permite representar cualquier sistema compuesto de elementos interconectados. Este enfoque es, en teoría, aplicable a cualquier escala, modalidad o cantidad de información neurocientífica. Objetivo: Presentar los resultados de la implementación de un algoritmo para analizar la conectividad funcional por teoría de grafos. Materiales: Resonador de 1,5 T para obtener imágenes con información en T1 volumétricas, para capturar la información estructural, y EPI con información en T2, para capturar la señal BOLD en reposo, de 19 individuos sanos y 1 paciente con epilepsia con diagnóstico imaginológico de displasia cortical. Se les solicitó permanecer despiertos, con los ojos cerrados, evitando pensar en algo particular. Los estudios fueron preprocesados y luego analizados mediante un grafo construido a partir de 8196 vóxeles de la corteza cerebral. Resultados: El enfoque permite obtener imágenes que codifican el patrón de correlación que tiene la señal BOLD en un vóxel con todos los otros vóxeles en la corteza cerebral. Este enfoque es replicable. Conclusiones: Se ha presentado un enfoque para analizar la conectividad funcional por teoría de grafos que permite cuantificar el grado de correlación de la señal BOLD en una muestra de vóxeles de la corteza cerebral y se ha presentado cómo cambia el patrón de correlación en un caso de epilepsia del lóbulo frontal.
Introduction: The latest analysis techniques of functional magnetic resonance enable to measure the spontaneous change of the BOLD signal during rest periods. The analysis and presentation methods which derive from the information obtained from these studies are divided in two approaches: functional connectivity at rest and functional connectivity using graph theory. A graph enables the representation of any system composed of interconnected elements. This approach is applicable to any scale, modality or quantity of neuroscientific data. Objective: To present the results of the implementation of one algorithm for the analysis of functional connectivity using graph theory. Materials and methods: The use of a 1.5 T magnetic resonator to obtain T1 volumetric images, in order to capture the structural information and the use of EPI with information in T2 in order to capture the BOLD signal at rest, in 19 healthy patients and 1 patient with epilepsy with a imaging diagnosis of cortical dysplasia. The patients were awake during the acquisition. Their eyes were closed, and they avoided specific thoughts. The studies are preprocessed using the approach reported in the literature and are analyzed with graphs using 8196 points of the cerebral cortex. Results: The presented approach enables to obtain images which encode the correlation pattern in the BOLD signal in a single. Meanwhile,the other voxels are in the cerebral cortex. This approach is replicable with other patients. Conclusions: An approach has been presented in order to analyze functional connectivity using graph theory. This enables to quantify the degree of correlation of a BOLD signal, in a voxel sample from the cerebral cortex. This approach also indicates how the correlation pattern changes in case of frontal lobe epilepsy.