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OBJECTIVE: Negative MRI and an epileptogenic zone (EZ) adjacent to eloquent areas are two main issues that can be encountered during pre-surgical evaluation for epilepsy surgery. Focal Cortical Dysplasia type II (FCD type II) is the most common aetiology underlying a negative MRI. The objective of this study is to present three cases of pediatric patients exhibiting negative MRI and a seizure onset zone close to eloquent areas, who previously underwent traditional open surgery or SEEG-guided radiofrequency thermocoagulations (RF-TC). After seizure seizure recrudescence, pre-surgical SEEG was re-evaluated and Magnetic Resonance-guided laser interstitial thermal therapy (MRg-LiTT) was performed. We discuss the SEEG patterns, the planning of laser probes trajectories and the outcomes one year after the procedure. METHODS: Pediatric patients who underwent SEEG followed by MRg-LiTT for drug-resistant epilepsy associated with FCD type II at our Centre were included. Pre-surgical videoEEG (vEEG), stereoEEG (sEEG), and MRI were reviewed. Post-procedure clinical outcome (measured by Engel score) and complications rates were evaluated. RESULTS: Three patients underwent 3 MRg-LiTT procedures from January 2022 to June 2022. Epileptogenic zone was previously studied via SEEG in all the patients. All the three patients pre-surgical MRI was deemed negative. Mean age at seizure onset was 47 months (21-96 months), mean age at MRg-LiTT was 12 years (10 years 10 months - 12 years 9 months). Engel class Ia outcome was achieved in patients #2 and #3, Engel class Ib in patient #1. Mean follow-up length was of 17 months (13 months - 20 months). Complications occurred in one patient (patient #2, extradural hematoma). CONCLUSIONS: The combined use of SEEG and MRg-LiTT in complex cases can lead to good outcomes both as a rescue therapy after failed surgery, but also as an alternative to open surgery after a successful SEEG-guided Radiofrequency Thermocoagulation (RF-TC). Specific SEEG patterns and a previous good outcome from RF-TC can be predictors of a favourable outcome.
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Epilepsia Resistente a Medicamentos , Epilepsia , Malformações do Desenvolvimento Cortical do Grupo I , Humanos , Criança , Pré-Escolar , Técnicas Estereotáxicas , Eletroencefalografia/métodos , Resultado do Tratamento , Epilepsia/cirurgia , Imageamento por Ressonância Magnética/métodos , Epilepsia Resistente a Medicamentos/diagnóstico por imagem , Epilepsia Resistente a Medicamentos/cirurgia , Convulsões/diagnóstico por imagem , Convulsões/etiologia , Convulsões/cirurgia , Espectroscopia de Ressonância Magnética , Estudos RetrospectivosRESUMO
Adenosine deaminase 2 deficiency (OMIM #615688) is an autosomal recessive disorder characterized by a wide clinical spectrum, including small- and medium-sized vessel vasculopathies, but data focusing on the associated neuroimaging features are still scarce in the literature. Here, we describe the clinical neuroimaging features of 12 patients with genetically proven adenosine deaminase 2 deficiency (6 males; median age at disease onset, 1.3 years; median age at genetic diagnosis, 15.5 years). Our findings expand the neuroimaging phenotype of this condition demonstrating, in addition to multiple, recurrent brain lacunar ischemic and/or hemorrhagic strokes, spinal infarcts, and intracranial aneurysms, also cerebral microbleeds and a peculiar, likely inflammatory, perivascular tissue in the basal and peripontine cisterns. Together with early clinical onset, positive family history, inflammatory flares and systemic abnormalities, these findings should raise the suspicion of adenosine deaminase 2 deficiency, thus prompting genetic evaluation and institution of tumor necrosis factor inhibitors, with a potential great impact on neurologic outcome.
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Agamaglobulinemia/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Neuroimagem/métodos , Imunodeficiência Combinada Severa/diagnóstico por imagem , Adenosina Desaminase/deficiência , Adenosina Desaminase/genética , Adolescente , Encéfalo/patologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Medula Espinal/diagnóstico por imagem , Medula Espinal/patologiaRESUMO
Neurodevelopmental disorders (NDDs) show a wide range of overlapping clinical features. Intellectual disability (ID), developmental delay (DD), autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD), language and communication disorders with or without motor abnormalities and/or epilepsy have been reported associated to single or multiple genes but in many cases the genetic basis remains unknown. The increasingly use of array-CGH has significantly improved the yield of diagnosing genomic disorders and led to the identification of several novel microdeletion and microduplication syndromes. TANC2 encodes a synaptic scaffold protein interacting with multiple neuropsychiatric disorder-related postsynaptic density (PSD) proteins in dendrites. Here, we describe a new case of TANC2 gene disruption in a 17q23.3 de novo microdeletion identified by array-CGH. The patient presented craniofacial dysmorphic features, hypotonia, and severe cognitive and motor impairment. In conclusion, our data add a further line of evidence supporting the role of TANC2 in NDDs and will help further researches to elucidate the regulatory mechanism of synaptic function and plasticity related to TANC2 haploinsufficiency.
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Deficiências do Desenvolvimento/genética , Proteínas/genética , Criança , Deleção Cromossômica , Cromossomos Humanos Par 17/genética , Deficiências do Desenvolvimento/patologia , Haploinsuficiência , Humanos , MasculinoRESUMO
BACKGROUND AND PURPOSE: Although developmental venous anomalies have been frequently studied in adults and occasionally in children, data regarding these entities are scarce in neonates. We aimed to characterize clinical and neuroimaging features of neonatal developmental venous anomalies and to evaluate any association between MR imaging abnormalities in their drainage territory and corresponding angioarchitectural features. MATERIALS AND METHODS: We reviewed parenchymal abnormalities and angioarchitectural features of 41 neonates with developmental venous anomalies (20 males; mean corrected age, 39.9 weeks) selected through a radiology report text search from 2135 neonates who underwent brain MR imaging between 2008 and 2019. Fetal and longitudinal MR images were also reviewed. Neurologic outcomes were collected. Statistics were performed using χ2, Fisher exact, Mann-Whitney U, or t tests corrected for multiple comparisons. RESULTS: Developmental venous anomalies were detected in 1.9% of neonatal scans. These were complicated by parenchymal/ventricular abnormalities in 15/41 cases (36.6%), improving at last follow-up in 8/10 (80%), with normal neurologic outcome in 9/14 (64.2%). Multiple collectors (P = .008) and larger collector caliber (P < .001) were significantly more frequent in complicated developmental venous anomalies. At a patient level, multiplicity (P = .002) was significantly associated with the presence of ≥1 complicated developmental venous anomaly. Retrospective fetal detection was possible in 3/11 subjects (27.2%). CONCLUSIONS: One-third of neonatal developmental venous anomalies may be complicated by parenchymal abnormalities, especially with multiple and larger collectors. Neuroimaging and neurologic outcomes were favorable in most cases, suggesting a benign, self-limited nature of these vascular anomalies. A congenital origin could be confirmed in one-quarter of cases with available fetal MR imaging.
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Malformações Vasculares/diagnóstico por imagem , Malformações Vasculares/patologia , Encéfalo/irrigação sanguínea , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Feminino , Seguimentos , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética/métodos , Masculino , Neuroimagem/métodos , Estudos RetrospectivosRESUMO
Fetal vascular malperfusion includes a continuum of placental histologic abnormalities increasingly associated with perinatal brain injury, namely arterial ischemic stroke. Here, we describe the clinical-neuroimaging features of 5 neonates with arterial ischemic stroke and histologically proved fetal vascular malperfusion. All infarcts involved the anterior territories and were multiple in 2 patients. In 2 neonates, there were additional signs of marked dural sinus congestion, thrombosis, or both. A mixed pattern of chronic hypoxic-ischemic encephalopathy and acute infarcts was noted in 1 patient at birth. Systemic cardiac or thrombotic complications were present in 2 patients. These peculiar clinical-radiologic patterns may suggest fetal vascular malperfusion and should raise the suspicion of this rare, underdiagnosed condition carrying important implications in patient management, medicolegal actions, and future pregnancy counseling.
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Doenças Fetais/patologia , Feto/irrigação sanguínea , Doenças do Recém-Nascido/patologia , AVC Isquêmico/congênito , Doenças Placentárias/patologia , Feminino , Doenças Fetais/etiologia , Humanos , Recém-Nascido , AVC Isquêmico/patologia , Masculino , Neuroimagem/métodos , GravidezRESUMO
Brain Tissue Segmentation (BTS) in young children and neonates is not a trivial task due to peculiar characteristics of the developing brain. The aim of this study is to present the preliminary results of new atlas-free BTS (afBTS) algorithm of MR images for pediatric applications, based on clustering. The algorithm works on axial T1, T2 and FLAIR sequences. First, the Cerebrospinal Fluid (CSF) is identified using the Region Growing algorithm. The remaining voxels are processed with the k-means algorithm in order to separate White Matter (WM) and Grey Matter (GM). The afBTS algorithm was applied to a population of 13 neonates; the segmentations were evaluated by two expert pediatric neuroradiologists and compared with an atlas-based algorithm. The results were promising: afBTS allowed reconstruction of WM and CSF with an image quality comparable to the reference of standard while lower segmentation quality was obtained for the GM segmentation.
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Processamento de Imagem Assistida por Computador , Imageamento por Ressonância Magnética , Algoritmos , Encéfalo , Criança , Pré-Escolar , Análise por Conglomerados , Humanos , Recém-NascidoRESUMO
BACKGROUND AND PURPOSE: Indirect revascularization surgery is an effective treatment in children with Moyamoya vasculopathy. In the present study, we hypothesized that DSC-PWI may reliably assess the evolution of CBF-related parameters after revascularization surgery, monitoring the outcome of surgical pediatric patients with Moyamoya vasculopathy. Thus, we aimed to evaluate differences in DSC-PWI parameters, including the hemodynamic stress distribution, in surgical and nonsurgical children with Moyamoya vasculopathy and to correlate them with long-term postoperative outcome. MATERIALS AND METHODS: Pre- and postoperative DSC parameters of 28 patients (16 females; mean age, 5.5 ± 4.8 years) treated with indirect revascularization were compared with those obtained at 2 time points in 10 nonsurgical patients (6 females; mean age, 6.9 ± 4.7 years). We calculated 4 normalized CBF-related parameters and their percentage variance: mean normalized CBF of the MCA territory, mean normalized CBF of the proximal MCA territory, mean normalized CBF of cortical the MCA territory, and hemodynamic stress distribution. The relationship between perfusion parameters and postoperative outcomes (poor, fair, good, excellent) was explored using 1-way analysis of covariance (P < .05). RESULTS: A significant decrease of the mean normalized CBF of the proximal MCA territory and hemodynamic stress distribution and an increase of the mean normalized CBF of the cortical MCA territory were observed after revascularization surgery (P < .001). No variations were observed in nonsurgical children. Postoperative hemodynamic stress distribution and its percentage change were significantly different in outcome groups (P < .001). CONCLUSIONS: DSC-PWI indices show postoperative hemodynamic changes that correlate with clinical outcome after revascularization surgery in children with Moyamoya disease.
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Circulação Cerebrovascular , Hemodinâmica , Doença de Moyamoya/diagnóstico por imagem , Doença de Moyamoya/cirurgia , Neuroimagem/métodos , Adolescente , Angiografia Cerebral , Revascularização Cerebral/métodos , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Imagem de Perfusão/métodos , Período Pós-Operatório , Estudos Retrospectivos , Resultado do TratamentoRESUMO
BACKGROUND AND PURPOSE: Segmental callosal agenesis is characterized by the absence of the intermediate callosal portion. We aimed to evaluate the structural connectivity of segmental callosal agenesis by using constrained spherical deconvolution tractography and connectome analysis. MATERIALS AND METHODS: We reviewed the clinical-radiologic features of 8 patients (5 males; mean age, 3.9 years). Spherical deconvolution and probabilistic tractography were performed on diffusion data. Structural connectivity analysis, including summary network metrics, modularity analysis, and network consistency measures, was applied in 5 patients and 10 age-/sex-matched controls. RESULTS: We identified 3 subtypes based on the position of the hippocampal commissure: beneath the anterior callosal remnant in 3 patients (type I), beneath the posterior callosal remnant in 3 patients (type II), and between the anterior and posterior callosal remnants in 2 patients (type III). In all patients, the agenetic segment corresponded to fibers projecting to the parietal lobe, and segmental Probst bundles were found at that level. Ectopic callosal bundles were identified in 3 patients. Topology analysis revealed reduced global connectivity in patients compared with controls. The network topology of segmental callosal agenesis was more variable across patients than that of the control connectomes. Modularity analysis revealed disruption of the structural core organization in the patients. CONCLUSIONS: Three malformative subtypes of segmental callosal agenesis were identified. Even the absence of a small callosal segment may impact global brain connectivity and modularity organization. The presence of ectopic callosal bundles may explain the greater interindividual variation in the connectomes of patients with segmental callosal agenesis.
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Agenesia do Corpo Caloso/patologia , Adolescente , Agenesia do Corpo Caloso/diagnóstico por imagem , Estudos de Casos e Controles , Criança , Pré-Escolar , Conectoma , Imagem de Tensor de Difusão , Feminino , Hipocampo/diagnóstico por imagem , Hipocampo/patologia , Humanos , Masculino , Vias Neurais/diagnóstico por imagem , Vias Neurais/patologia , Lobo Parietal/diagnóstico por imagem , Lobo Parietal/patologia , Estudos RetrospectivosRESUMO
Diencephalic-mesencephalic junction dysplasia is a rare malformation characterized by a poorly defined junction between the diencephalon and the mesencephalon, associated with a characteristic butterfly-like contour of the midbrain (butterfly sign). This condition may be variably associated with other brain malformations, including callosal abnormalities and supratentorial ventricular dilation, and is a potential cause of developmental hydrocephalus. Here, we have reported 13 fetuses with second-trimester obstructive ventriculomegaly and MR features of diencephalic-mesencephalic junction dysplasia, correlating the fetal imaging with available pathology and/or postnatal data. The butterfly sign can be clearly detected on axial images on fetal MR imaging, thus allowing for the prenatal diagnosis of diencephalic-mesencephalic junction dysplasia, with possible implications for the surgical management of hydrocephalus and parental counseling.
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Diencéfalo/anormalidades , Diencéfalo/diagnóstico por imagem , Mesencéfalo/anormalidades , Mesencéfalo/diagnóstico por imagem , Malformações do Sistema Nervoso/diagnóstico por imagem , Adulto , Feminino , Feto , Idade Gestacional , Humanos , Hidrocefalia/congênito , Hidrocefalia/diagnóstico por imagem , Imageamento por Ressonância Magnética , Gravidez , Segundo Trimestre da Gravidez , Diagnóstico Pré-NatalRESUMO
BACKGROUND AND PURPOSE: The anatomy of the deep venous system is characterized by a great variability that might play an important role in the pathogenesis of brain lesions in the preterm brain. The aim of this study was to compare the anatomy of cerebral subependymal veins evaluated on SWI venography in 3 groups of neonates with normal brain MR imaging (very preterm [gestational age <32 weeks], moderate-to-late preterm [gestational age ≥32 to ≤37 weeks], and term neonates [gestational age >37 weeks]) and to evaluate the influence of preterm birth on development of subependymal veins. MATERIALS AND METHODS: SWI venographies of 84 very preterm, 31 moderate-to-late preterm, and 50 term neonates were retrospectively evaluated. Subependymal vein anatomy was classified into 6 different patterns: type 1 represented the classic pattern and types 2-6 were considered anatomic variants. A χ2 test was used to evaluate differences between the distributions of subependymal vein patterns. RESULTS: A significant difference (P = .011) was noticed between the 6 patterns based on gestational age. Type 1 was more frequent in term neonates (68%) than in both very preterm (41.7%) and moderate-to-late preterm neonates (56.5%). Anatomic variants were more common in very preterm neonates (66%) than in both moderate-to-late preterm (41%) and term neonates (36%). Interhemispheric asymmetry was more frequent in very preterm (59.5%) and moderate-to-late preterm neonates (51.6%) than in term neonates (34%; P = .017). Sex and monozygotic twin birth did not significantly affect the frequency of subependymal vein patterns (P = .0962). CONCLUSIONS: The deep venous system of the neonatal brain shows a large spectrum of anatomic variants with higher variability of subependymal vein anatomy in preterm than term neonates, likely related to the influence of the preterm birth and epigenetic factors on subependymal vein development.
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BACKGROUND AND PURPOSE: The loss of contrast on T1-weighted MR images at 3T may affect the detection of hyperintense punctate lesions indicative of periventricular leukomalacia in preterm neonates. The aim of the present study was to determine which 3T T1-weighted sequence identified the highest number of hyperintense punctate lesions and to explore the relationship between the number of hyperintense punctate lesions and clinical outcome. MATERIALS AND METHODS: The presence of hyperintense punctate lesions was retrospectively evaluated in 200 consecutive preterm neonates on 4 axial T1-weighted sequences: 3-mm inversion recovery and spin-echo and 1- and 3-mm reformatted 3D-fast-field echo. Statistically significant differences in the number of hyperintense punctate lesions were evaluated by using a linear mixed-model analysis. Logistic regression analysis was used to assess the relation between the number of hyperintense punctate lesions and neuromotor outcome at 3 months. RESULTS: Thirty-one neonates had at least 1 hyperintense punctate lesion indicative of periventricular leukomalacia in at least 1 of the 4 sequences. The 1-mm axial reformatted 3D-fast-field echo sequence identified the greatest number of hyperintense punctate lesions (P < .001). No statistically significant differences were found among the 3-mm T1-weighted sequences. The greater number of hyperintense punctate lesions detected by the 1-mm reformatted T1 3D-fast-field echo sequence in the central region of the brain was associated with a worse clinical outcome. CONCLUSIONS: At 3T, the 1-mm axial reformatted T1 3D-fast-field echo sequence identified the greatest number of hyperintense punctate lesions in the central region of preterm neonate brains, and this number was associated with neuromotor outcome.
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Encéfalo/patologia , Leucomalácia Periventricular/patologia , Imageamento por Ressonância Magnética/métodos , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Modelos Lineares , Masculino , Estudos RetrospectivosRESUMO
This study sought to identify the behavioral characteristics and appropriate treatment of a form of instrumental aggression in companion dogs, herein recognized as avoidance-motivated aggression. In Experiment 1, retrospective data on 92 cases of dangerously aggressive dogs demonstrated the avoidance nature of the aggressive response and its intractability to established counterconditioning treatments. In Experiment 2, safety training, a modified avoidance-learning procedure, resulted in complete and permanent elimination of aggression in all of the 36 dogs tested. In addition, it produced extremely extinction-resistant prosocial avoidance responses, significant increases in the dogs' emotional stability, an avoidance-learning and safety acquisition response set, and improvements in measures of the dog's "carriage." Experiment 3 showed how effective safety training is when compared with other behavior modification techniques that, in theory, should have an impact on avoidance-motivated aggression. Experiment 4 demonstrated the critical importance of using the conditioned safety cue as a positive reinforcement. The relationship of avoidance-motivated aggression to other forms of aggression is discussed. The success of safety training compared with the failure of electrical aversion therapy is analyzed. The theoretical concepts of behavioral balance and an avoidance-learning set are presented. Suggestions to improve the effectiveness of counterconditioning for human avoidance-motivated pathologies are offered. All in all, the data seem to suggest that safety training may create in dogs a sense of control over environmental stressors. By teaching the dogs a behaviorally balanced battery of prosocial "coping" responses, they may be developing the canine counterpart of "self-efficacy" or "courage." It is suggested that this cognitive modification may provide the antithesis of "learned helplessness" and may be of prime importance to the success and stability of the results.
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Prevenção de Acidentes , Agressão/psicologia , Aprendizagem da Esquiva , Cães , Motivação , Segurança , Animais , Condicionamento Clássico , Condicionamento Operante , Humanos , Meio SocialRESUMO
Introducción: Las estimaciones no representativas de la ingesta habitual reducen la validez de una investigación.Objetivos: Determinar qué proporción de un grupo de adultos que practican actividad física en forma recreacional, realizan registros alimentarios de escasa validez para estimar la ingesta energética habitual. Determinar si la validez de la ingesta energética estimada se asocia con determinadas características de los encuestados (sociodemográficas y antropométricas entre otras). Material y Métodos: Estudio transversal analítico. Se incluyeron adultos de 19 a 70 años, de ambos sexos, que realizaron actividad física programada en 4 establecimientos deportivos en Capita Federal y el Conurbano bonaerense de julio a septiembre de 2009. Se realizaron dos entrevistas, mediciones antropométricas, un registro alimentario de 6 días y un registro de actividad física. Para identificar ingesta estimadas no representativas de la ingesta habitual se utilizó el método de Mc.Crory y col., con un punto de corte ±1DE. Resultados: De los 48 encuestados, el 31,3% (n=15) realizó un registroalimentario compatible con una subestimación de la ingesta energética habitual. El 22,9% (n=11) de los encuestados realizó un registro alimentario que posiblemente sobrestimó la ingesta de energía. La circunferencia de cintura aumentada y el sobrepeso se asociaron con el subregistro (p<0,01), mientras que en el grupo que posiblemente sobrestimó la ingesta había una mayor proporción de individuos con un nivel educativo mayor al secundario completo (p<0,05). Conclusiones: Tanto el sub como el sobre registro estuvieron presentes en este grupo y deben ser tenidos en cuenta al diseñar estudios que utilicen estas herramientas.