RESUMO
Introducción: Las malformaciones del desarrollo cortical se deben a alteraciones en la migración del neuroblasto durante la formación de la corteza cerebral. Se desconoce su frecuencia en embarazos monocoriales. Objetivo: Reportar el caso de un embarazo monocorial con diagnóstico de malformación del desarrollo cortical en uno de los fetos y revisar la literatura referente a su diagnóstico y pronóstico. Método: Mujer de 19 años, embarazo monocorial biamniótico de 26 semanas, que acudió con estudio ecográfico y resonancia fetal que evidenció en uno de los fetos asimetría de los hemisferios cerebrales, hipoplasia de la cisura de Silvio izquierda con simplificación del patrón giral por focos de paquigiria y polimicrogiria, con confirmación posnatal de alteración en la migración neuronal asociada a hipoplasia vermiana. Resultados: Se encontraron en la literatura tres casos de embarazo múltiple monocorial con trastorno de la migración neuronal con recién nacidos vivos. Los hallazgos más comunes fueron microcefalia, lisencefalia e hipoplasia cerebelosa. Conclusiones: El diagnóstico prenatal del trastorno de la migración neuronal se realiza con ecografía y resonancia fetal. La más frecuente es la alteración de la migración neuronal tipo II. El pronóstico depende del tipo de alteración; sin embargo, la mayoría de los casos presentan trastornos epileptiformes con alteraciones del neurodesarrollo.
Introduction: Malformations of cortical development are the result from alterations in the neuroblast migration during the cerebral cortex formation. Its frequency in monochorial multiple pregnancies remains unknown. Objective: To report a case of monochorial multiple pregnancy with diagnosis of malformation of the cortical development in one of the fetuses. In addition, to review the literature regarding the diagnosis and prognosis of this entity. Method: A 19-year-old female with a monochorial diamniotic pregnancy of 26 weeks gestation, arrived with an ultrasound anatomy scan visit, and fetal magnetic resonance imaging, we detected asymmetry in the cerebral hemispheres one of the fetuses, hypoplasia of the left sulcus of Sylvius with simplification of the gyrus pattern due to clusters of pachygyria and polymicrogyria. Those findings were confirmed afterbirth, with a definite diagnosis of neuronal migration disorder associated with vermian hypoplasia. Results: Three cases of monochorial pregnancy with neuronal migration disorder with live newborn, common findings like microcephaly, lissencephaly and vermian hypoplasia. Conclusions: Prenatal diagnosis with neuronal migration disorder is done via ultrasound and magnetic resonance imaging. Neuronal migration disorders type II are the most common of them. Prognosis depends on the type of disorder; however, most patients have epileptiform activity and neurodevelopment impairment.
Assuntos
Humanos , Feminino , Gravidez , Adulto Jovem , Malformações do Desenvolvimento Cortical/diagnóstico por imagem , Gravidez de Gêmeos , Diagnóstico Pré-Natal , Prognóstico , Imageamento por Ressonância Magnética , Ecoencefalografia , UltrassonografiaRESUMO
The presence of dysmorphic neurons with strong cytoplasmatic accumulation of heavy non-phosphorylated neurofilament is crucial for the diagnostics of focal cortical dysplasia type II (FCDII). While ILAE's classification describes neocortical dysplasias, some groups have reported patients with mesial t abnormal neurons in the hippocampus of mesial temporal lobe epilepsy. Here we report a patient with such abnormal neurons in the hippocampus and compared it with previous reports of hippocampal dysplasia. Finally, we discuss the need for diagnostic criteria of hippocampal dysplasia.
Assuntos
Epilepsia do Lobo Temporal , Hipocampo , Adulto , Humanos , Epilepsia , Epilepsia do Lobo Temporal/diagnóstico , Epilepsia do Lobo Temporal/patologia , Hipocampo/patologia , Imageamento por Ressonância Magnética , Malformações do Desenvolvimento Cortical/diagnóstico , Malformações do Desenvolvimento Cortical/patologia , Malformações do Desenvolvimento Cortical do Grupo I/diagnóstico , Malformações do Desenvolvimento Cortical do Grupo I/patologiaRESUMO
Focal atonic seizures are recognized rarely as ictal phenomena, they can correspond to both generalized epilepsy and focal epilepsy. The areas of the brain involved in the management of this type of seizure are: the negative motor area and the primary motor and primary somatosensory cortices, although the neurophysiology that generates them is still unclear. We present the case of a patient with focal atonic seizures in the left upper limb, refractory to drug treatment. Neuroimaging was performed, a parietal cortical lesion was diagnosed. A scalp Video EEG and then a Stereo EEG was performed, defining the epileptogenic area and its relationship with eloquent areas. Surgical resection of the lesion was performed, achieving complete seizure control.
Las crisis atónicas focales son poco reconocidas como fenómenos ictales, pueden corresponder tanto a una epilepsia generalizada como a una epilepsia focal. Las áreas del cerebro implicadas en la gestión de este tipo de crisis son: el área motora negativa y las cortezas motora primaria y somatosensitiva primaria, aunque aún la neurofisiología que las genera no está aclarada. Presentamos el caso de un paciente con crisis atónicas focales farmacorresistentes en miembro superior izquierdo. Se realizó resonancia de cerebro con diagnóstico de displasia cortical parietal, se monitoreó con video EEG de scalp y luego a video EEG con electrodos profundos. Se definieron el área epileptógena y su relación con áreas elocuentes, se realizó resección quirúrgica de la lesión, logrando el control completo de las crisis.
Assuntos
Epilepsias Parciais , Epilepsia Generalizada , Malformações do Desenvolvimento Cortical , Humanos , Epilepsias Parciais/etiologia , Epilepsias Parciais/cirurgia , Epilepsias Parciais/diagnóstico , Convulsões/etiologia , Convulsões/cirurgia , Encéfalo , Malformações do Desenvolvimento Cortical/complicações , Malformações do Desenvolvimento Cortical/diagnóstico por imagem , Malformações do Desenvolvimento Cortical/cirurgia , Eletroencefalografia , Imageamento por Ressonância MagnéticaRESUMO
The present article describes pathophysiological and clinical aspects of congenital malformations of the cerebral tissue (cortex and white matter) that cause epilepsy and very frequently require surgical treatment. A particular emphasis is given to focal cortical dysplasias, the most common pathology among these epilepsy-related malformations. Specific radiological and surgical features are also highlighted, so a thorough overview of cortical dysplasias is provided.
Assuntos
Epilepsia , Displasia Cortical Focal , Malformações do Desenvolvimento Cortical , Humanos , Malformações do Desenvolvimento Cortical/complicações , Epilepsia/etiologia , Córtex Cerebral/diagnóstico por imagem , Imageamento por Ressonância Magnética/efeitos adversosRESUMO
Focal cortical dysplasias (FCDs) are malformations of cortical development that often result in medically refractory epilepsy, with a greater incidence in the pediatric population. The relationship between the disturbed cortical morphology and epileptogenic activity of FCDs remains unclear. We used the BCNU (carmustine 1-3-bis-chloroethyl-nitrosourea) animal model of cortical dysplasia to evaluate neuronal and laminar alterations and how these result in altered activity of intracortical networks in early life. We corroborated the previously reported morphological anomalies characteristic of the BCNU model, comprising slightly larger and rounder neurons and abnormal cortical lamination. Next, the neuronal activity of live cortical slices was evaluated through large field-of-view calcium imaging as well as the neuronal response to a stimulus that leads to cortical hyperexcitability (pilocarpine). Examination of the joint activity of neuronal calcium time series allowed us to identify intracortical communication patterns and their response to pilocarpine. The baseline power density distribution of neurons in the cortex of BCNU-treated animals was different from that of control animals, with the former showing no modulation after stimulus. Moreover, the intracortical communication pattern differed between the two groups, with cortexes from BCNU-treated animals displaying decreased inter-layer connectivity as compared to control animals. Our results indicate that the altered anatomical organization of the cortex of BCNU-treated rats translates into altered functional networks that respond abnormally to a hyperexcitable stimulus and highlight the role of network dysfunction in the pathophysiology of cortical dysplasia.
Assuntos
Carmustina , Malformações do Desenvolvimento Cortical , Ratos , Animais , Criança , Humanos , Cálcio , Pilocarpina , NeurôniosAssuntos
Epilepsia , Malformações do Desenvolvimento Cortical , Polimicrogiria , Eletroencefalografia , Epilepsia/etiologia , Epilepsia/patologia , Humanos , Imageamento por Ressonância Magnética , Malformações do Desenvolvimento Cortical/complicações , Malformações do Desenvolvimento Cortical/diagnóstico por imagem , Polimicrogiria/complicações , Polimicrogiria/diagnóstico por imagemRESUMO
OBJECTIVE: This study was undertaken to evaluate superficial-white matter (WM) and deep-WM magnetic resonance imaging diffusion tensor imaging (DTI) metrics and identify distinctive patterns of microstructural abnormalities in focal epilepsies of diverse etiology, localization, and response to antiseizure medication (ASM). METHODS: We examined DTI data for 113 healthy controls and 113 patients with focal epilepsies: 51 patients with temporal lobe epilepsy (TLE) and hippocampal sclerosis (HS) refractory to ASM, 27 with pharmacoresponsive TLE-HS, 15 with temporal lobe focal cortical dysplasia (FCD), and 20 with frontal lobe FCD. To assess WM microstructure, we used a multicontrast multiatlas parcellation of DTI. We evaluated fractional anisotropy (FA), mean diffusivity (MD), radial diffusivity (RD), and axial diffusivity (AD), and assessed within-group differences ipsilateral and contralateral to the epileptogenic lesion, as well as between-group differences, in regions of interest (ROIs). RESULTS: The TLE-HS groups presented more widespread superficial- and deep-WM diffusion abnormalities than both FCD groups. Concerning superficial WM, TLE-HS groups showed multilobar ipsilateral and contralateral abnormalities, with less extensive distribution in pharmacoresponsive patients. Both the refractory TLE-HS and pharmacoresponsive TLE-HS groups also presented pronounced changes in ipsilateral frontotemporal ROIs (decreased FA and increased MD, RD, and AD). Conversely, FCD patients showed diffusion changes almost exclusively adjacent to epileptogenic areas. SIGNIFICANCE: Our findings add further evidence of widespread abnormalities in WM diffusion metrics in patients with TLE-HS compared to other focal epilepsies. Notably, superficial-WM microstructural damage in patients with FCD is more restricted around the epileptogenic lesion, whereas TLE-HS groups showed diffuse WM damage with ipsilateral frontotemporal predominance. These findings suggest the potential of superficial-WM analysis for better understanding the biological mechanisms of focal epilepsies, and identifying dysfunctional networks and their relationship with the clinical-pathological phenotype. In addition, lobar superficial-WM abnormalities may aid in the diagnosis of subtle FCDs.
Assuntos
Epilepsia do Lobo Temporal , Malformações do Desenvolvimento Cortical , Substância Branca , Atrofia/patologia , Imagem de Tensor de Difusão/métodos , Hipocampo/patologia , Humanos , Imageamento por Ressonância Magnética , Malformações do Desenvolvimento Cortical/patologia , Esclerose/patologia , Substância Branca/patologiaRESUMO
Cortical dysplasias are alterations in the organization of the layers of the brain cortex due to problems in neuronal migration during development. The neuronal component has been widely studied in experimental models of cortical dysplasias. In contrast, little is known about how glia are affected. In the cerebellum, Bergmann glia (BG) are essential for neuronal migration during development, and in adult they mediate the control of fine movements through glutamatergic transmission. The aim of this study was to characterize the morphology and intracellular calcium dynamics of BG and astrocytes from mouse cerebellum and their modifications in a model of cortical dysplasia induced by carmustine (BCNU). Carmustine-treated mice were affected in their motor coordination and balance. Cerebellar dysplasias and heterotopias were more frequently found in lobule X. Morphology of BG cells and astrocytes was affected, as were their spontaneous [Ca2+]i transients in slice preparation and in vitro.
Assuntos
Sinalização do Cálcio , Cerebelo/patologia , Malformações do Desenvolvimento Cortical/metabolismo , Malformações do Desenvolvimento Cortical/patologia , Neuroglia/metabolismo , Neuroglia/patologia , Animais , Astrócitos/patologia , Carmustina , Células Cultivadas , Malformações do Desenvolvimento Cortical/induzido quimicamente , Camundongos Transgênicos , Atividade MotoraRESUMO
OBJECTIVE: We aimed to better characterize the magnetic resonance imaging (MRI) findings of mild malformation of cortical development with oligodendroglial hyperplasia (MOGHE), a rare clinicopathological entity associated with pharmacoresistance recently described in patients with frontal lobe epilepsy. METHODS: We studied 12 patients who underwent epilepsy surgery and whose surgical specimens showed histopathological findings of MOGHE, characterized by preserved cortical lamination, blurred gray-white matter interface due to increased number of oligodendrocytes, and heterotopic neurons in the white matter. The age at MRI evaluation ranged from 11 to 58 years, except for one 4.5-year-old patient. RESULTS: Following a detailed MRI analysis using an in-house protocol, we found abnormalities in all cases. The lesion was circumscribed in the frontal lobe in six (50%) and in the temporal lobe in three (25%) patients. In the remaining three patients (25%), the lesion was multilobar (frontotemporal and temporoparieto-occipital). Cortical thickening was mild in all patients, except in the 4.5-year-old patient, who had pronounced cortical thickening and white matter blurring. We also identified cortical/subcortical hyperintense T2/fluid-attenuated inversion recovery signal associated with gray/white matter blurring in all but one patient. When present, cleft cortical dimple, and deep sulci aided in localizing the lesion. Overall, the MRI findings were like those in focal cortical dysplasia (FCD) Type IIa. Surgical outcome was excellent in five patients (Engel Class I in 25% and II in 17%). The remaining seven patients (58%) had worthwhile seizure reduction (Engle Class III). Incomplete lesion resection was significantly associated with worse outcomes. SIGNIFICANCE: MRI findings associated with MOGHE are similar to those described in FCD Type IIa. Although more frequent in the frontal lobe, MOGHE also occurred in the temporal lobe or involved multiple lobes. Multilobar or extensive MOGHE MRI lesions are associated with less favorable surgical outcomes. Because this is a rare condition, multicenter studies are necessary to characterize MOGHE further.
Assuntos
Epilepsia do Lobo Frontal/diagnóstico por imagem , Epilepsia do Lobo Frontal/patologia , Malformações do Desenvolvimento Cortical/diagnóstico por imagem , Oligodendroglia/patologia , Adolescente , Adulto , Idade de Início , Criança , Pré-Escolar , Estudos de Coortes , Epilepsia Resistente a Medicamentos/diagnóstico por imagem , Epilepsia Resistente a Medicamentos/patologia , Epilepsia Resistente a Medicamentos/cirurgia , Eletroencefalografia , Epilepsia do Lobo Frontal/cirurgia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Malformações do Desenvolvimento Cortical/cirurgia , Pessoa de Meia-Idade , Neurônios/patologia , Procedimentos Neurocirúrgicos , Tomografia por Emissão de Pósitrons , Resultado do Tratamento , Adulto JovemRESUMO
Congenital Zika virus syndrome (CZVS) is associated with severe neurological deficits. Clinical characteristics of epilepsy and the electroencephalographic (EEG) pattern in CZVS were documented in infancy. In this study, we aimed to describe the EEG findings observed during the follow-up of children with CZVS. Seventy-six EEGs of 55 children (60% female; mean age = 50 months) with confirmed CZVS were analyzed, considering the background, interictal, and ictal epileptiform discharges. Continuous (or almost continuous) epileptiform discharges during non-rapid eye movement sleep were identified in 22 (40%) patients. In 20 (90.1%) patients, the pattern was symmetrical, with an anterior predominance of the epileptiform activity. All patients with this pattern had epilepsy, which was severe in 15 (68.2%) and demanded polytherapy in 19 (86.4%). Subcortical calcifications (77.3%) and multifocal EEGs (72.8%) in earlier ages occurred more often in patients with this pattern. Other unspecific interictal EEG patterns were focal epileptiform discharges in 23 (41.8%) and multifocal activity in six (10.9%). In CZVS, continuous (or almost continuous) epileptiform discharges during sleep emerge as a pattern after the second year of life. This was associated with severe and drug-resistant epilepsy, but not necessarily with an apparent regression. Subcortical calcifications and multifocal epileptiform discharges in infancy are associated with this pattern.