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1.
Artigo em Russo | MEDLINE | ID: mdl-33095529

RESUMO

OBJECTIVE: Surgery is the first-line treatment option in children with FCD and refractory epilepsy, but the rate of success and patient numbers who became free of seizures vary widely from series to series. STUDY AIMS: To elicit variables affecting the outcome and predicting achievement of the long-term seizure-free status. MATERIAL AND METHODS: One hundred sixty-nine children with cortical dysplasia and DR-epilepsy underwent surgery Preoperative evaluation included prolonged video-EEG and MRI (in all patients) and neuropsychological testing when possible. Fourteen patients underwent invasive EEG, fMRI and MEG were used also in some cases. Including 27 repeat procedures the list of overall 196 surgeries performed consists of: cortectomy (lesionectomy with or without adjacent epileptogenic cortices) ­ in 116 cases; lobectomy ­ in 46; and various disconnective procedures ­ in 34 patients. Almost routinely employed intraoperative ECOG (134 surgeries) was combined with stimulation and/or SSEP in 47 cases to map eloquent cortex (with CST-tracking in some). A new permanent and not anticipated neurological deficit developed post-surgery in 5 cases (2,5%). Patients were follow-upped using video-EEG and MRI and FU which lasts more than 2 years (median ­ 3 years) is known in 56 cases. Thirty-two children were free of seizures at the last check (57,2% rate of Engel IA). A list of variables regarding patients' demography, seizure type, lesion pathology and localization, and those related to surgery and its extent were evaluated to figure out anyone associated with favorable outcome. RESULTS: Both Type II FCDs and their anatomically complete excision are positive predictors for favorable outcome and achievement of SF-status (p<0,05). Residual epileptic activity on immediate post-resection ECOG do not affect the outcome. CONCLUSION: Patients with Type II FCD, particularly with Type IIb malformations are the best candidates for curative surgery, including cases with lesions in brain eloquent areas. Kids with Type I FCD have much less chances to become free of seizures when attempting focal cortectomy. However, some of them with early onset catastrophic epilepsies may benefit from larger surgeries using lobectomy or various disconnections.


Assuntos
Epilepsia , Malformações do Desenvolvimento Cortical , Criança , Epilepsia/diagnóstico por imagem , Epilepsia/cirurgia , Humanos , Malformações do Desenvolvimento Cortical/complicações , Malformações do Desenvolvimento Cortical/diagnóstico por imagem , Malformações do Desenvolvimento Cortical/cirurgia , Estudos Retrospectivos , Convulsões/diagnóstico por imagem , Convulsões/etiologia , Convulsões/cirurgia , Resultado do Tratamento
3.
Eur J Paediatr Neurol ; 26: 82-88, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-31818545

RESUMO

Ictal pouting (Chapeau de gendarme sign) can be described as an inverted smile. It consists of a turned down mouth with the contraction of the chin, wrinkling of the lips and symmetrical lowering of the labial commissures. This shape resembles the gendarme's hat during Napoléon I's time. Chapeau de gendarme sign is frequently seen in frontal and temporal lobe seizures. Focal cortical dysplasias are intrinsically epileptogenic foci and are frequently seen in patients with ictal pouting in seizure semiology. In this report, we analyzed clinical data, video EEG recordings and brain imagings of three children presenting with ictal pouting semiology in whom patients' magnetic resonans images (MRIs) or positron emission tomographies (PETs) were positive or doubtful for FCD in all. In case 1 and 2 the epileptogenic zones were temporal or temporoinsular. In these patients, with involvement of temporal lobe, dystonia and automatisms were seen in the seizure semiology after chapeau de gendarme sign. In case 3 with frontal lobe origin, hypermotor movements were seen after ictal pouting. In the patients 1 and 2, the cortical dysplasias were in temporal lobe. In patient 3, PET demonstrated hypometabolism on left inferior frontal gyrus but we couldn't verify this finding with MRIs. Ictal pouting (Chapeau de gendarme sign) is a distinct seizure semiology that can often be overlooked and coexist with focal cortical thickening. We suggest that focal cortical dysplasias should be searched in patients with ictal pouting particularly in those with refractory focal seizures.


Assuntos
Malformações do Desenvolvimento Cortical/complicações , Convulsões/diagnóstico , Convulsões/etiologia , Adulto , Criança , Eletroencefalografia/métodos , Músculos Faciais/fisiopatologia , Feminino , Humanos , Masculino , Malformações do Desenvolvimento Cortical/fisiopatologia , Espasmo/etiologia
4.
Neurol India ; 67(6): 1469-1471, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31857537

RESUMO

Objective: To study the DNA methylation profiles in brain tissue of patients with refractory epilepsy due to malformations of cortical development (MCDs). Materials and Methods: Clinical, neuroimaging, and pathology characteristics were defined for 13 patients who underwent resective surgery for epilepsy. Methylation analysis was performed using Illumina® 450k Methylation Microarray. Data analysis was completed, and pathway identification was done using the R/Bioconductor package. Results: Genes associated with Ephrin-Reelin pathway, potassium channels, and glutathione metabolism were differentially methylated in the MCD group when compared with patients who had no evidence of MCD. Conclusions: Our preliminary data reveal that epigenetic pathways may have a role in the pathobiogenesis of MCDs.


Assuntos
Encéfalo/metabolismo , Metilação de DNA , Epilepsia/genética , Malformações do Desenvolvimento Cortical/genética , Encéfalo/diagnóstico por imagem , Encéfalo/cirurgia , Moléculas de Adesão Celular Neuronais/genética , Moléculas de Adesão Celular Neuronais/metabolismo , Criança , Pré-Escolar , Epilepsia/etiologia , Epilepsia/cirurgia , Proteínas da Matriz Extracelular/genética , Proteínas da Matriz Extracelular/metabolismo , Feminino , Humanos , Lactente , Masculino , Malformações do Desenvolvimento Cortical/complicações , Malformações do Desenvolvimento Cortical/cirurgia , Proteínas do Tecido Nervoso/genética , Proteínas do Tecido Nervoso/metabolismo , Projetos Piloto , Canais de Potássio/genética , Canais de Potássio/metabolismo , Serina Endopeptidases/genética , Serina Endopeptidases/metabolismo , Transdução de Sinais/genética
5.
AJNR Am J Neuroradiol ; 40(12): 2137-2142, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31727747

RESUMO

BACKGROUND AND PURPOSE: Conventional MR imaging has limitations in detecting focal cortical dysplasia. We assessed the added value of 7T in patients with histologically proved focal cortical dysplasia to highlight correlations between neuropathology and ultra-high-field imaging. MATERIALS AND METHODS: Between 2013 and 2019, we performed a standardized 7T MR imaging protocol in patients with drug-resistant focal epilepsy. We focused on 12 patients in whom postsurgical histopathology revealed focal cortical dysplasia and explored the diagnostic yield of preoperative 7T versus 1.5/3T MR imaging and the correlations of imaging findings with histopathology. We also assessed the relationship between epilepsy surgery outcome and the completeness of surgical removal of the MR imaging-visible structural abnormality. RESULTS: We observed clear abnormalities in 10/12 patients using 7T versus 9/12 revealed by 1.5/3T MR imaging. In patients with focal cortical dysplasia I, 7T MR imaging did not disclose morphologic abnormalities (n = 0/2). In patients with focal cortical dysplasia II, 7T uncovered morphologic signs that were not visible on clinical imaging in 1 patient with focal cortical dysplasia IIa (n = 1/4) and in all those with focal cortical dysplasia IIb (n = 6/6). T2*WI provided the highest added value, disclosing a peculiar intracortical hypointense band (black line) in 5/6 patients with focal cortical dysplasia IIb. The complete removal of the black line was associated with good postsurgical outcome (n = 4/5), while its incomplete removal yielded unsatisfactory results (n = 1/5). CONCLUSIONS: The high sensitivity of 7T T2*-weighted images provides an additional tool in defining potential morphologic markers of high epileptogenicity within the dysplastic tissue of focal cortical dysplasia IIb and will likely help to more precisely plan epilepsy surgery and explain surgical failures.


Assuntos
Imagem por Ressonância Magnética/métodos , Malformações do Desenvolvimento Cortical/diagnóstico por imagem , Neuroimagem/métodos , Adolescente , Adulto , Epilepsia Resistente a Medicamentos/etiologia , Epilepsia Resistente a Medicamentos/cirurgia , Feminino , Humanos , Masculino , Malformações do Desenvolvimento Cortical/complicações , Pessoa de Meia-Idade
6.
J Neuropathol Exp Neurol ; 78(12): 1147-1159, 2019 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-31633782

RESUMO

Axons from deep heterotopia do not extend through U-fibers, except transmantle dysplasias. Keratan sulfate (KS) in fetal spinal cord/brainstem median septum selectively repels glutamatergic axons while enabling GABAergic commissural axons. Immunocytochemical demonstration of KS in neocortical resections and forebrain at autopsy was studied in 12 fetuses and neonates 9-41 weeks gestational age (GA), 9 infants, children, and adolescents and 5 patients with focal cortical dysplasias (FCD1a). From 9 to 15 weeks GA, no KS is seen in the cortical plate; 19-week GA reactivity is detected in the molecular zone. By 28 weeks GA, patchy granulofilamentous reactivity appears in extracellular matrix and adheres to neuronal somata with increasing intensity in deep cortex and U-fibers at term. Perifascicular KS surrounds axonal bundles of both limbs of the internal capsule and within basal ganglia from 9 weeks GA. Thalamus and globus pallidus exhibit intense astrocytic reactivity from 9 weeks GA. In FCD1a, U-fiber reactivity is normal, discontinuous or radial. Ultrastructural correlates were not demonstrated; KS is not electron-dense. Proteoglycan barrier of the U-fiber layer impedes participation of deep heterotopia in cortical epileptic networks. Perifascicular KS prevents aberrant axonal exit from or entry into long and short tracts. KS adhesion to neuronal somatic membranes may explain inhibitory axosomatic synapses.


Assuntos
Axônios/patologia , Epilepsia/patologia , Epilepsia/fisiopatologia , Sulfato de Ceratano/fisiologia , Inibição Neural , Prosencéfalo , Adolescente , Axônios/fisiologia , Criança , Pré-Escolar , Epilepsia/complicações , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Malformações do Desenvolvimento Cortical/complicações , Malformações do Desenvolvimento Cortical/patologia , Malformações do Desenvolvimento Cortical/fisiopatologia , Prosencéfalo/embriologia , Prosencéfalo/patologia , Prosencéfalo/fisiopatologia , Sinapses/patologia , Sinapses/fisiologia , Substância Branca/patologia , Substância Branca/fisiologia
7.
Medicina (B Aires) ; 79 Suppl 3: 37-41, 2019.
Artigo em Espanhol | MEDLINE | ID: mdl-31603842

RESUMO

Around 15% of childhood epilepsies are resistant to antiepileptic drugs, 40% of which are caused by malformations of cortical development (MCD). The current classification scheme for MCD is based on the primary developmental steps of cell proliferation, neuronal migration, and cortical organization. Considering the clinic and molecular alterations, a classification based on main pathways disruption and imaging phenotype has been proposed. MCD were divided into four groups: megalencephaly and focal cerebral dysplasia; tubulinopathies and lissencephalies; polymicrogyria syndromes and heterotopia syndromes. More than 100 genes have been reported to be associated with different types of MCD. Genetic and biological mechanisms include different stages of cell cycle regulation - especially cell division -, apoptosis, cell-fate specification, cytoskeletal structure and function, neuronal migration, and basement-membrane function. The associated epileptic syndromes are varied ranging from early-onset epileptic encephalopathies to focal epilepsies. As MCD are common causes of refractory epilepsy, a prompt diagnosis and the development of different therapeutic options in order to improve the outcome of the patients are essential.


Assuntos
Epilepsia/etiologia , Malformações do Desenvolvimento Cortical/complicações , Criança , Pré-Escolar , Eletroencefalografia , Humanos , Imagem por Ressonância Magnética , Masculino , Malformações do Desenvolvimento Cortical/classificação , Malformações do Desenvolvimento Cortical/diagnóstico por imagem , Malformações do Desenvolvimento Cortical/genética
8.
Epilepsia ; 60(9): 1861-1869, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31418851

RESUMO

OBJECTIVE: To determine the underlying etiologies in a contemporary cohort of infants with infantile spasms and to examine response to treatment. METHODS: Identification of the underlying etiology and response to treatment in 377 infants enrolled in a clinical trial of the treatment of infantile spasms between 2007 and 2014 using a systematic review of history, examination, and investigations. They were classified using the pediatric adaptation of International Classification of Diseases, Tenth Revision (ICD-10). RESULTS: A total of 219 of 377 (58%) had a proven etiology, of whom 128 (58%) responded, 58 of 108 (54%) were allocated hormonal treatment, and 70 of 111 (63%) had combination therapy. Fourteen of 17 (82%, 95% confidence interval [CI] 59% to 94%) infants with stroke and infarct responded (compared to 114 of 202 for the rest of the proven etiology group (56%, 95% CI 48% to 62%, chi-square 4.3, P = .037): the better response remains when treatment allocation and lead time are taken into account (odds ratio 5.1, 95% CI 1.1 to 23.6, P = .037). Twenty of 37 (54%, 95% CI 38% to 70%) infants with Down syndrome had cessation of spasms compared to 108 of 182 (59%, 95% CI 52% to 66%, chi-square 0.35, P = .55) for the rest of the proven etiology group. The lack of a significant difference remains after taking treatment modality and lead-time into account (odds ratio 0.8, 95% CI 0.4 to 1.7, P = .62). In Down syndrome infants, treatment modality did not appear to affect response: 11 of 20 (55%) allocated hormonal therapy responded, compared to 9 of 17 (53%) allocated combination therapy. SIGNIFICANCE: This classification allows easy comparison with other classifications and with our earlier reports. Stroke and infarct have a better outcome than other etiologies, whereas Down syndrome might not respond to the addition of vigabatrin to hormonal treatment.


Assuntos
Malformações do Desenvolvimento Cortical/complicações , Espasmos Infantis/etiologia , Acidente Vascular Cerebral/complicações , Anticonvulsivantes/uso terapêutico , Feminino , Humanos , Lactente , Masculino , Malformações do Desenvolvimento Cortical/fisiopatologia , Prednisolona/uso terapêutico , Espasmos Infantis/tratamento farmacológico , Espasmos Infantis/fisiopatologia , Acidente Vascular Cerebral/fisiopatologia , Vigabatrina/uso terapêutico
9.
Cells ; 8(7)2019 07 02.
Artigo em Inglês | MEDLINE | ID: mdl-31269740

RESUMO

Mutations in tubulin genes are responsible for a large spectrum of brain malformations secondary to abnormal neuronal migration, organization, differentiation and axon guidance and maintenance. Motor impairment, intellectual disability and epilepsy are the main clinical symptoms. In the present study 15 patients from a personal cohort and 75 from 21 published studies carrying mutations in TUBA1A, TUBB2B and TUBB3 tubulin genes were evaluated with the aim to define a clinical and electrophysiological associated pattern. Epilepsy shows a wide range of severity without a specific pattern. Mutations in TUBA1A (60%) and TUBB2B (74%) and TUBB3 (25%) genes are associated with epilepsy. The accurate analysis of the Electroencephalogram (EEG) pattern in wakefulness and sleep in our series allows us to detect significant abnormalities of the background activity in 100% of patients. The involvement of white matter and of the inter-hemispheric connection structures typically observed in tubulinopathies is evidenced by the high percentage of asynchronisms in the organization of sleep activity recorded. In addition to asymmetries of the background activity, excess of slowing, low amplitude and Magnetic Resonance (MR) imaging confirm the presence of extensive brain malformations involving subcortical and midline structures. In conclusion, epilepsy in tubulinopathies when present has a favorable evolution over time suggesting a not particularly aggressive therapeutic approach.


Assuntos
Encéfalo/anormalidades , Epilepsia/genética , Malformações do Desenvolvimento Cortical/genética , Tubulina (Proteína)/genética , Adolescente , Adulto , Encéfalo/diagnóstico por imagem , Encéfalo/crescimento & desenvolvimento , Criança , Pré-Escolar , Eletroencefalografia , Epilepsia/diagnóstico , Epilepsia/epidemiologia , Feminino , Humanos , Imagem por Ressonância Magnética , Masculino , Malformações do Desenvolvimento Cortical/complicações , Pessoa de Meia-Idade , Mutação , Índice de Gravidade de Doença , Fatores de Tempo , Adulto Jovem
10.
Acta Neurol Scand ; 140(4): 296-300, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31231790

RESUMO

BACKGROUND: Mild malformation of cortical dysplasia (mMCD) with oligodendroglial hyperplasia (MOGHE) is an epilepsy-related pathologic entity highlighted in post-surgical specimens of frontal lobe epilepsy (FLE) patients. AIMS OF THE STUDY: We present two temporal lobe epilepsy (TLE) cases with MOGHE and discuss clinical, neurophysiological, and neuroimaging features that may be indicative of surgical outcome. METHODS: We identified two cases with MOGHE out of 30 temporal lobe epilepsy (TLE) surgical patient cohort, whose pathological distribution spared the hippocampal structures. RESULTS: The TLE cases shared common features with the FLE series in terms of patient profiles, MRI findings and post-surgical outcome. TLE plus seizure semiology combined with extratemporal scalp electroencephalographic (EEG) and electrocorticographic (ECoG) epileptiform elements at a distance from the imaging lesion were suggestive of an underlying multifocal pathology. CONCLUSIONS: MOGHE pathology has to be considered in the decision-making process for TLE epilepsy surgery when this constellation of features is met.


Assuntos
Epilepsia do Lobo Temporal/diagnóstico por imagem , Malformações do Desenvolvimento Cortical/diagnóstico por imagem , Oligodendroglia/patologia , Lobo Temporal/diagnóstico por imagem , Adolescente , Eletroencefalografia/métodos , Epilepsia do Lobo Temporal/complicações , Epilepsia do Lobo Temporal/cirurgia , Feminino , Humanos , Hiperplasia/complicações , Hiperplasia/diagnóstico por imagem , Hiperplasia/cirurgia , Imagem por Ressonância Magnética/métodos , Malformações do Desenvolvimento Cortical/complicações , Malformações do Desenvolvimento Cortical/cirurgia , Lobo Temporal/cirurgia
11.
Neurol India ; 67(2): 442-447, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31085857

RESUMO

Objective: To study the prevalence and clinical characteristics of malformation of cortical development (MCD) and incomplete hippocampal inversion (IHI) in adults with intractable seizures. Materials and Methods: In this prospective study of 3220 epileptic patients in our epilepsy clinic between 2012 and 2014, 416 had intractable seizures. In all patients, a detailed clinical history, neurological examination, electroencephalography (EEG), computed tomography (CT) scan, magnetic resonance imaging (MRI) brain, and neuropsychological assessment was conducted to identify MCD and IHI. Results: Out of 416 patients with intractable seizures, MCD and IHI were confirmed in 85 patients (48 males, 37 females). MCD was observed in 46 (11.05%) patients and IHI were observed in 39 (9.37%) patients. Chi square test revealed no signi cant difference between the MCD and IHI groups across the patients in different age groups, gender, type of seizure, duration and onset of seizure, seizure frequency, clustering, status epilepticus, EEG, febrile seizures, and family history. Statistically significant differences (P < 0.05) were observed between the MCD and IHI groups for change in seizure semiology and in intelligence quotient (IQ) and memory quotient (MQ) scores obtained using Wechsler's adult intelligence scale III and Wechsler's memory scale. The IHI group showed higher IQ and MQ scores when compared to the MCD group. Furthermore, IHI occurred along with MCD in 6.52% (N = 3) of the population. Conclusion: MCD and IHI patients are often associated with intractable complex partial seizures. Intractable epilepsy patients with normal intelligence and normal MRI should be investigated with hippocampal volumetric studies to identify the presence of IHI. Isolated IHI can be considered as a form of MCD because it mimics the clinical features of MCDs.


Assuntos
Hipocampo/cirurgia , Malformações do Desenvolvimento Cortical/epidemiologia , Convulsões/complicações , Estado Epiléptico/epidemiologia , Adolescente , Adulto , Córtex Cerebral/anormalidades , Córtex Cerebral/cirurgia , Feminino , Hipocampo/fisiopatologia , Humanos , Masculino , Malformações do Desenvolvimento Cortical/complicações , Pessoa de Meia-Idade , Prevalência , Estudos Prospectivos , Convulsões/cirurgia
12.
J Clin Neurosci ; 64: 21-22, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30954356

RESUMO

This case report details a novel approach to the management of super-refractory status epilepticus (SRSE) in a boy with new-onset seizures progressing to SRSE. After exhausting multiple medications, dexmedetomidine, an α2-adrenoreceptor agonist used for sedation, stopped his SRSE. Dexmedetomidine provides a unique mechanism of action to treat this condition. Further studies are needed to determine its role in SRSE.


Assuntos
Agonistas de Receptores Adrenérgicos alfa 2/uso terapêutico , Dexmedetomidina/uso terapêutico , Malformações do Desenvolvimento Cortical/complicações , Estado Epiléptico/tratamento farmacológico , Estado Epiléptico/etiologia , Pré-Escolar , Epilepsia Resistente a Medicamentos/tratamento farmacológico , Epilepsia Resistente a Medicamentos/etiologia , Humanos , Masculino
13.
Epilepsy Behav ; 94: 209-215, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30974349

RESUMO

Mild malformation of cortical development (mMCD) and focal cortical dysplasia (FCD) subtypes combined are by far the most common histological diagnoses in children who undergo surgery as treatment for refractory epilepsy. In patients with refractory epilepsy, a substantial burden of disease is due to cognitive impairment. We studied intelligence quotient (IQ) or developmental quotient (DQ) values and their change after epilepsy surgery in a consecutive series of 42 children (median age at surgery: 4.5, range: 0-17.0 years) with refractory epilepsy due to mMCD/FCD. Cognitive impairment, defined as IQ/DQ below 70, was present in 51% prior to surgery. Cognitive impairment was associated with earlier onset of epilepsy, longer epilepsy duration, and FCD type I histology. Clinically relevant improvement of ≥10 IQ/DQ points was found in 24% of children and was related to the presence of presurgical epileptic encephalopathy (EE). At time of postsurgical cognitive testing, 59% of children were completely seizure-free (Engel 1A). We found no association between cognitive outcome and seizure or medication status at two years of follow-up. Epilepsy surgery in children with mMCD or FCD not only is likely to result in complete and continuous seizure freedom, but also improves cognitive function in many.


Assuntos
Disfunção Cognitiva/cirurgia , Epilepsia/cirurgia , Malformações do Desenvolvimento Cortical/cirurgia , Avaliação de Resultados em Cuidados de Saúde , Adolescente , Criança , Pré-Escolar , Disfunção Cognitiva/etiologia , Anormalidades Craniofaciais/complicações , Anormalidades Craniofaciais/cirurgia , Epilepsia Resistente a Medicamentos/complicações , Epilepsia Resistente a Medicamentos/cirurgia , Epilepsias Parciais/complicações , Epilepsias Parciais/cirurgia , Epilepsia/complicações , Feminino , Seguimentos , Humanos , Lactente , Masculino , Malformações do Desenvolvimento Cortical/complicações
14.
Cephalalgia ; 39(9): 1195-1199, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30880433

RESUMO

BACKGROUND AND OBJECTIVES: Ictal epileptic headache is a rare form of painful seizure, habitually consisting of migrainous or tension-type headache. We describe a case of a patient with short-lasting, severe retroorbital pain attacks caused by frontal lobe epilepsy. CASE REPORT: A 25-year-old male patient presented with recurrent attacks of paroxysmal, short-lasting, excruciating left periorbital and facial pain mainly occurring from sleep. After intracranial EEG exploration and resection of a right prefrontal focal cortical dysplasia, long-term seizure and headache remission was obtained. DISCUSSION: Our case extends the clinical and neuroanatomical spectrum of ictal epileptic headache and suggests that long-term remission can be obtained by resective epilepsy surgery. It also reinforces the role of the prefrontal cortex in the pain matrix and pain generation. CONCLUSION: Despite its rarity, ictal epileptic headache should be suspected in selected patients, particularly those with other ictal symptoms and signs, history of epileptic seizures, or neuroimaging abnormalities.


Assuntos
Epilepsia do Lobo Frontal/complicações , Cefaleia/etiologia , Convulsões/etiologia , Adulto , Eletroencefalografia , Epilepsia do Lobo Frontal/diagnóstico , Epilepsia do Lobo Frontal/cirurgia , Humanos , Imagem por Ressonância Magnética , Masculino , Malformações do Desenvolvimento Cortical/complicações , Malformações do Desenvolvimento Cortical/diagnóstico , Malformações do Desenvolvimento Cortical/cirurgia
15.
Rev Neurol (Paris) ; 175(3): 183-188, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30819503

RESUMO

Epilepsy related to malformations of cortical development is frequently drug resistant or requires heavy medication, therefore surgery is key in their management. The role of stereotactic surgery has recently changed the diagnosis and treatment of focal cortical dysplasias (FCD), hypothalamic hamartomas (HH) and periventricular nodular heterotopias (PNH). In HH, radiosurgery using Gammaknife® leads to 60 % of seizure control and is associated with excellent neuropsychological results without significant endocrine function impairment. The seizure control rate is even higher (more than 80 %) with monopolar multiple stereotactic thermocoagulations and Laser interstitial Thermal Therapy (LiTT). While the first technique is associated with a 2 % complications rate (but with excellent neuropsychological outcomes), the latest has up to 22 % side effects in some series. All three of these techniques have encouraging results, but controlled studies are still lacking to provide evidence-based new therapeutic algorithms. With regard to the PNH, surgical management has long been limited by the depth of the lesions and their close anatomical relations with the functional brain connectome. Stereotactic approaches required to perform a SEEG, to locate the part of the PNH responsible for the seizure onset, are later followed by a stereotactic lesioning procedure, therefore doubling the bleeding risk. That is why SEEG-guided radiofrequency-thermocoagulation (SEEG guided-RF-TC), which makes it possible to perform these two steps in a single procedure, was considered as a promising option. A recent meta-analysis confirmed this intuition and reported 38 % of seizure-free patients and 81 % of responders with only 0.3 % of complications, making this approach the first treatment line, followed by LiTT. Among the multiple advances in the FCD identification by non-invasive investigations, a new modality of per-operative diagnostic procedure, the three-dimensional electrocorticography may lead to simplify the preoperative investigation and enhance the accuracy of FCD delineation. Evidence is nevertheless still insufficient to validate this promising concept. Conventional surgical resection has also been concerned by significant conceptual advances during the past few years, in particular with the development of the hodotopic approach, initially in oncologic surgery. Associated with a better understanding of neuroplasticity in epilepsy and the setting up of functional mapping during SEEG or during awake surgery, the possibility of surgical resections grew up. A short-term perspective in this field, when surgical resection remains impossible, would be to target crucial nodes of the epileptic network, distinct from the core functional connectome.


Assuntos
Malformações do Desenvolvimento Cortical/cirurgia , Procedimentos Neurocirúrgicos/tendências , Eletrocoagulação , Eletroencefalografia/métodos , Epilepsia/diagnóstico , Epilepsia/etiologia , Epilepsia/cirurgia , Humanos , Malformações do Desenvolvimento Cortical/complicações , Malformações do Desenvolvimento Cortical/diagnóstico , Malformações do Desenvolvimento Cortical/epidemiologia , Procedimentos Neurocirúrgicos/métodos , Radiocirurgia , Terapias em Estudo/métodos , Terapias em Estudo/tendências , Resultado do Tratamento
16.
J Neurol ; 266(5): 1167-1181, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30796522

RESUMO

OBJECTIVES: To describe the neurological phenotype of children with prenatal diagnosis of agenesis of corpus callosum (ACC) and interhemispheric cysts associated with malformations of cortical development (MCD). METHODS: We reviewed the neuroimaging, neurologic, EEG, and genetic data of 36 patients (21 males, mean age 7 years) with ACC and interhemispheric cysts. Associations were tested with Chi-squared and Fisher exact tests. RESULTS: According to the 2001 Barkovich classification, we found 4 type 1c (11.1%), 6 type 2a (16.6%), 18 type 2b (50%, 6/18 girls with Aicardi syndrome), and 9 type 2c cysts (22.2%). EEG showed specific epileptic activity in 27/36 patients (75%). Epilepsy was diagnosed in 16 subjects (16/36, 44.4%), including all Aicardi patients, and was associated with cognitive impairment (p = 0.032). Severe intellectual disability and epilepsy were associated with type 2b cysts, always due to Aicardi patients (p < 0.05). After excluding Aicardi patients, all subjects with type 2b cysts had mild neurological phenotype. Patients with 2a and 2c cysts more frequently had normal cognition (83.3% and 62.5% of cases, respectively). Patients with type 1c cyst mostly had mild/moderate cognitive impairment. Severe neurologic deficits were associated with 1c cysts and 2b cysts with Aicardi syndrome (p < 0.05). Multilobar and/or bilateral MCD were associated with severe neurological and epileptic phenotypes (p < 0.05). CONCLUSION: Once excluded Aicardi syndrome, most patients with ACC and interhemispheric cysts have a mild clinical phenotype characterized by borderline/normal cognition and minor neurological signs. Despite the high prevalence of EEG epileptic abnormalities, epilepsy in these cases is infrequent and usually responsive to antiepileptic drugs.


Assuntos
Agenesia do Corpo Caloso/complicações , Cistos/complicações , Malformações do Desenvolvimento Cortical/complicações , Agenesia do Corpo Caloso/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Canadá , Criança , Cistos/diagnóstico por imagem , Feminino , Seguimentos , Humanos , Imageamento Tridimensional , Itália , Imagem por Ressonância Magnética , Masculino , Malformações do Desenvolvimento Cortical/diagnóstico por imagem , Entrevista Psiquiátrica Padronizada , Exame Neurológico , Estudos Retrospectivos
17.
Dev Med Child Neurol ; 61(10): 1145-1152, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-30680716

RESUMO

AIM: We aimed to systematically review the speech production, language, and oral function phenotype of bilateral perisylvian polymicrogyria (BPP), and examine the correlation between the topography of polymicrogyria and the severity of speech, language, and oral functional impairment. METHOD: A systematic search of MEDLINE, Embase, and PubMed databases was completed on 26th October 2017 using Medical Subject Heading terms synonymous with BPP and speech, language, or oral motor impairment. In total, 2411 papers were identified and 48 met inclusion criteria. RESULTS: Expressive and receptive language impairment and oral structural and functional deficits are frequent in BPP. Expressive deficits are frequently more severe than receptive. Only one study used formal assessments to demonstrate the presence of speech disorder, namely dysarthria. Seven studies reported an association between diffuse BPP and more severe language impairment. INTERPRETATION: Findings confirmed that language deficits are common in BPP, though assessment of the specific speech phenotype is limited. The paucity of high quality studies detailing the specific communication phenotype of BPP highlights the need for further investigation. Improving understanding of this phenotype will inform the development of targeted therapies and lead to better long-term outcomes. WHAT THIS PAPER ADDS: Speech, language, and oral functional impairments are common in individuals with bilateral perisylvian polymicrogyria. Posterior polymicrogyria is associated with a less severe language impairment than anterior polymicrogyria. Deeper investigation of speech is needed to understand implicated networks in this malformation.


Assuntos
Anormalidades Múltiplas/psicologia , Deficiência Intelectual/psicologia , Transtornos do Desenvolvimento da Linguagem/etiologia , Idioma , Malformações do Desenvolvimento Cortical/psicologia , Fala , Anormalidades Múltiplas/diagnóstico , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/diagnóstico , Malformações do Desenvolvimento Cortical/complicações , Malformações do Desenvolvimento Cortical/diagnóstico , Fenótipo , Índice de Gravidade de Doença
18.
J Clin Neurophysiol ; 36(3): 242-245, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30531428

RESUMO

There are very few randomized controlled trials studying treatment of super refractory status epilepticus (SE), despite estimated occurrence in about 15% of SE cases and its association with high morbidity and mortality rates. Small case series and case reports have described use of neurostimulation, including vagal nerve stimulation, transcranial magnetic stimulation, and deep brain stimulation, to treat super refractory SE when medical interventions have failed. To our knowledge, this is the first reported case of responsive neurostimulation being used to successfully treat a case of super refractory SE. A 37-year-old man with refractory focal epilepsy and a known focal cortical dysplasia involving motor cortex was implanted with an RNS System device after being in super refractory SE for 20 days. Responsive neurostimulation strip and depth electrodes were placed targeting the cortical dysplasia. Detection and stimulation parameters were adjusted over a 14-day period, as medications were gradually weaned. Seizures abated 15 days after implant, 24 hours after stimulation parameters were configured to mimic seizure offset pattern. Seizure remission was sustained, allowing the patient to be weaned off sedating medications and discharged to a rehabilitation facility. At 6 weeks of follow-up, the patient was near his neurologic baseline with no focal deficits.


Assuntos
Estimulação Encefálica Profunda/instrumentação , Epilepsia Resistente a Medicamentos/terapia , Estado Epiléptico/terapia , Adulto , Epilepsia Resistente a Medicamentos/etiologia , Epilepsias Parciais/etiologia , Epilepsias Parciais/terapia , Humanos , Masculino , Malformações do Desenvolvimento Cortical/complicações , Estado Epiléptico/etiologia
20.
Epilepsia ; 60(2): 233-245, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30577071

RESUMO

OBJECTIVE: Surgical volumes at large epilepsy centers are decreasing. Pediatric cohorts, however, show a trend toward more resections and superior outcome. Differences in pediatric and adult epilepsy surgery were investigated in our cohort. METHODS: The Bethel database between 1990 and 2014 was retrospectively analyzed. RESULTS: A total of 1916 adults and 1300 children underwent presurgical workup. The most common etiologies were medial temporal sclerosis (35.4%) in adults, and focal cortical dysplasias (21.1%) and diffuse hemispheric pathologies (14.7%) in children. Only 1.4% of the total cohort had normal histopathology. A total of 1357 adults (70.8%) and 751 children (57.8%) underwent resections. Surgery types for children were more diverse and showed a higher proportion of extratemporal resections (32.8%) and functional hemispherectomies (20.8%). Presurgical evaluations increased in both groups; surgical numbers remained stable for children, but decreased in the adult group from 2007 on. The patients' decision against surgery in the adult nonoperated cohort increased over time (total = 44.9%, 27.4% in 1995-1998 up to 53.2% in 2011-2014; for comparison, in children, total = 22.1%, stable over time). Postsurgical follow-up data were available for 1305 adults (96.2%) and 690 children (91.9%) 24 months after surgery. The seizure freedom rate was significantly higher in children than in adults (57.8% vs 47.5%, P < 0.001) and significantly improved over time (P = 0.016). SIGNIFICANCE: Pediatric epilepsy surgery has stable surgical volumes and renders more patients seizure-free than epilepsy surgery in adults. A relative decrease in hippocampal sclerosis, the traditional substrate of epilepsy surgery, changes the focus of epilepsy surgery toward other pathologies.


Assuntos
Epilepsia do Lobo Temporal/cirurgia , Epilepsia/cirurgia , Hemisferectomia/tendências , Malformações do Desenvolvimento Cortical/cirurgia , Adolescente , Adulto , Criança , Pré-Escolar , Eletroencefalografia/efeitos adversos , Epilepsia do Lobo Temporal/patologia , Feminino , Seguimentos , Hemisferectomia/métodos , Humanos , Masculino , Malformações do Desenvolvimento Cortical/complicações , Estudos Retrospectivos , Lobo Temporal/patologia , Lobo Temporal/cirurgia , Resultado do Tratamento
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