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Hypothalamic hamartomas (HHs) are rare congenital lesions formed by heterotopic neuronal and glial cells attached to the mammillary bodies, tuber cinereum, and hypothalamus.They often present with an intractable epilepsy typically characterized by gelastic seizures but commonly associated with other types of refractory seizures. The clinical course is progressive in most of the cases, starting with gelastic seizures in infancy and deteriorating into complex seizure disorders that result in catastrophic epilepsy associated with cognitive decline and behavioral disturbances.Hamartomas are known to be intrinsically epileptogenic and the site of origin for the gelastic seizures. As antiepileptic drugs are typically ineffective in controlling HH-related epilepsy, different surgical options have been proposed as a treatment to achieve seizure control. Resection or complete disconnection of the hamartoma from the mammillothalamic tract has proved to achieve a long-lasting control of the epileptic syndrome.Usually, symptoms and their severity are typically related to the size, localization, and type of attachment. Precocious puberty appears mostly in the pedunculated type, while epileptic syndrome and behavioral decline are frequently related to the sessile type. For this reason, different classifications of HHs have been developed based on their size, extension, and type of attachment to the hypothalamus.The bigger and more complex hypothalamic hamartomas typically present with severe refractory epilepsy, behavioral disturbances, and progressive cognitive decline posing a formidable challenge for the control of these symptoms.We present here our experience with the multimodal treatment for complex hypothalamic hamartomas. After an in-depth review of the literature, we systematize our approach for the different types of hypothalamic hamartomas.
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Epilepsia Refractaria , Epilepsias Parciales , Síndromes Epilépticos , Hamartoma , Enfermedades Hipotalámicas , Humanos , Hamartoma/complicaciones , Terapia CombinadaRESUMEN
AIM: To study neurotransmitter status in children with early epileptic and developmental and epileptic encephalopathy (DEE) and to explore the clinical response to dopaminergic and serotoninergic therapies in a group of patients. METHOD: Two hundred and five patients (111 males [54.1.%] and 94 females [45.9%], mean age 10 months at the onset of epilepsy [SD 1 year 1 month], range 0-3 year) with epileptic encephalopathy/DEE were recruited, including those with West syndrome, Ohtahara syndrome, early myoclonic encephalopathy, epilepsy of infancy with migrating focal seizures, myoclonic encephalopathy in non-progressive disorders, infantile spasms, Doose syndrome, Lennox-Gastaut syndrome, Landau-Kleffner syndrome, and those unclassified. Cerebrospinal fluid (CSF) neurotransmitter studies and patients' medical records were reviewed. Additionally, we present clinical data of 10 patients with low CSF neurotransmitter levels who received dopaminergic/serotoninergic treatments. RESULTS: Abnormal neurotransmitter values were identified in 68 (33%) patients. 5-Hydroxyindoleacetic acid (5-HIAA) deficit was the most prevalent alteration (91%). Low CSF 5-HIAA levels were significantly higher in 1- to 3-year-old children. A negative significant correlation was found between 5-HIAA levels and epilepsy duration before CSF study (Spearman's ρ=-0.191, p=0.007). Abnormalities in deep grey matter were associated with low levels of CSF homovanillic acid and 5-HIAA. Ten patients with low CSF neurotransmitter levels received dopamine and/or serotonin therapies. Six of them showed initial decrease of seizure frequency and severity and maintained improvement in some neurodevelopmental skills. INTERPRETATION: A considerable number of patients showed neurotransmitter abnormalities. Age at seizure onset and duration of epilepsy before CSF study were the principal factors related to neurotransmitter depletion. Early monoamine supplementation would seem advisable as a neuroprotective strategy. WHAT THIS PAPER ADDS: 5-Hydroxyindoleacetic acid homeostasis is especially vulnerable in patients with epileptic encephalopathy/developmental and epileptic encephalopathy. Age of seizure onset and duration of epilepsy are determinants of neurotransmitter depletion.
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Epilepsias Mioclónicas , Epilepsia , Espasmos Infantiles , Preescolar , Electroencefalografía , Epilepsia/terapia , Femenino , Humanos , Ácido Hidroxiindolacético/uso terapéutico , Lactante , Masculino , Neurotransmisores , Convulsiones , Espasmos Infantiles/tratamiento farmacológicoRESUMEN
OBJECTIVE: To delineate the epileptic phenotype of LAMA2-related muscular dystrophy (MD) and correlate it with the neuroradiological and muscle biopsy findings, as well as the functional motor phenotype. METHODS: Clinical, electrophysiological, neuroradiological, and histopathological data of 25 patients with diagnosis of LAMA2-related MD were analyzed. RESULTS: Epilepsy occurred in 36% of patients with LAMA2-related MD. Mean age at first seizure was 8 years. The most common presenting seizure type was focal-onset seizures with or without impaired awareness. Visual aura and autonomic signs, including vomiting, were frequently reported. Despite a certain degree of variability, bilateral occipital or temporo-occipital epileptiform abnormalities were by far the most commonly observed. Refractory epilepsy was found in 75% of these patients. Epilepsy in LAMA2-related MD was significantly more prevalent in those patients in whom the cortical malformations were more extensive. In contrast, the occurrence of epilepsy was not found to be associated with the patients' motor ability, the size of their white matter abnormalities, or the amount of residual merosin expressed on muscle. SIGNIFICANCE: The epileptic phenotype of LAMA2-related MD is characterized by focal seizures with prominent visual and autonomic features associated with EEG abnormalities that predominate in the posterior quadrants. A consistent correlation between epileptic phenotype and neuroimaging was identified, suggesting that the extension of the polymicrogyria may serve as a predictor of epilepsy occurrence.
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Distrofias Musculares/congénito , Adolescente , Edad de Inicio , Anticonvulsivantes/uso terapéutico , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Encéfalo/fisiopatología , Niño , Preescolar , Electroencefalografía , Electromiografía , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Distrofias Musculares/diagnóstico por imagen , Distrofias Musculares/tratamiento farmacológico , Distrofias Musculares/fisiopatología , Neuroimagen , Fenotipo , Adulto JovenRESUMEN
Vagus nerve stimulation (VNS) is a surgical treatment available for patients affected by generalized refractory epilepsy. The authors report the case of a 15-year-old girl affected by CHD2-related myoclonic encephalopathy and BLM haploinsufficiency due to a deletion of 15q25.3q26.2 region, who suffered from secondary hemophagocytic lymphohistiocytosis (SHLH) after a VNS wound infection. SHLH has sporadically been described in epileptic patients. Based on indirect evidence that shows immune dysregulation in patients with CHD2 mutations and BLM mutations, we hypothesize that the genetic background of this patient may have played a critical role in the development of the syndrome.
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Epilepsia Refractaria , Epilepsias Mioclónicas , Epilepsia , Linfohistiocitosis Hemofagocítica , Estimulación del Nervio Vago , Adolescente , Niño , Proteínas de Unión al ADN , Femenino , Humanos , Linfohistiocitosis Hemofagocítica/complicaciones , Linfohistiocitosis Hemofagocítica/terapiaRESUMEN
PURPOSE: We present a modified version of the SISCOM procedure that uses interictal PET instead of interictal SPECT for seizure onset zone localization. We called this new nuclear imaging processing technique PISCOM (PET interictal subtracted ictal SPECT coregistered with MRI). METHODS: We retrospectively studied 23 patients (age range 4-61 years) with medically refractory epilepsy who had undergone MRI, ictal SPECT, interictal SPECT and interictal FDG PET and who had been seizure-free for at least 2 years after surgical treatment. FDG PET images were reprocessed (rFDG PET) to assimilate SPECT features for image subtraction. Interictal SPECT and rFDG PET were compared using statistical parametric mapping (SPM). PISCOM and SISCOM images were evaluated visually and using an automated volume of interest-based analysis. The results of the two studies were compared with each other and with the known surgical resection site. RESULTS: SPM showed no significant differences in cortical activity between SPECT and rFDG PET images. PISCOM and SISCOM showed equivalent results in 17 of 23 patients (74%). The seizure onset zone was successfully identified in 19 patients (83%) by PISCOM and in 17 (74%) by SISCOM: in 15 patients (65%) the two techniques showed concordant successful results. The volume of interest-based analysis showed no significant differences between PISCOM and SISCOM in identifying the extension of the seizure onset zone. However, PISCOM showed a lower amount of indeterminate activity due to propagation, background or artefacts. CONCLUSION: Preliminary findings of this initial proof-of-concept study suggest that perfusion and glucose metabolism in the cerebral cortex can be correlated and that PISCOM may be a valid technique for identification of the seizure onset zone. However, further studies are needed to validate these results.
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Epilepsia/diagnóstico por imagen , Procesamiento de Imagen Asistido por Computador , Imagen Multimodal/métodos , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Tomografía de Emisión de Positrones , Estudios Retrospectivos , Tomografía Computarizada de Emisión de Fotón Único , Adulto JovenRESUMEN
BACKGROUND: Stereoelectroencephalography (SEEG) is an effective technique to help to locate and to delimit the epileptogenic area and/or to define relationships with functional cortical areas. We intend to describe the surgical technique and verify the accuracy, safety, and effectiveness of robot-assisted SEEG in a newly created SEEG program in a pediatric center. We focus on the technical difficulties encountered at the early stages of this program. METHODS: We prospectively collected SEEG indication, intraoperative events, accuracy calculated by fusion of postoperative CT with preoperative planning, complications, and usefulness of SEEG in terms of answering preimplantation hypothesis. RESULTS: Fourteen patients between the ages of 5 and 18 years old (mean 10 years) with drug-resistant epilepsy were operated on between April 2016 and April 2018. One hundred sixty-four electrodes were implanted in total. The median entry point localization error (EPLE) was 1.57 mm (1-2.25 mm) and the median target point localization error (TPLE) was 1.77 mm (1.2-2.6 mm). We recorded seven intraoperative technical issues. Two patients suffered complications: meningitis without demonstrated germ in one patient and a right frontal hematoma in the other. In all cases, the SEEG was useful for the therapeutic decision-making. CONCLUSION: SEEG has been useful for decision-making in all our pediatric patients. The robotic arm is an accurate tool for the insertion of the deep electrodes. Nevertheless, it is an invasive technique not risk-free and many problems can appear at the beginning of a robotic arm-assisted SEEG program that must be taken into account beforehand.
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Epilepsia Refractaria/cirugía , Electroencefalografía/métodos , Complicaciones Posoperatorias/epidemiología , Robótica/métodos , Técnicas Estereotáxicas/efectos adversos , Adolescente , Niño , Preescolar , Toma de Decisiones Clínicas , Epilepsia Refractaria/diagnóstico , Electrodos Implantados/efectos adversos , Electrodos Implantados/normas , Electroencefalografía/efectos adversos , Electroencefalografía/instrumentación , Electroencefalografía/normas , Femenino , Humanos , Masculino , Robótica/instrumentación , Robótica/normas , Técnicas Estereotáxicas/instrumentación , Técnicas Estereotáxicas/normasRESUMEN
Background/Objectives: This study aims to assess the relationship between physical and psychosocial pre-surgical factors and post-surgical evolution in patients undergoing orthognathic surgery. Methods: A cohort study with 3 months of follow-up after maxillofacial surgery was conducted. Participants were recruited from the Maxillofacial Surgery Unit of Hospital Universitario La Paz in Madrid, Spain. Primary variables included the range of motion of mouth opening, protrusion tongue force, anxiety, depression and kinesiophobia. Assessments were realised on-site or via video call. Statistical analysis was conducted using mixed-effects models. Results: The initial recruitment yielded 22 patients, with 19 ultimately eligible for analysis. The study found significant impacts of pre-surgical factors on post-surgical evolution. Both ranges of motion and anxiety showed influences from baseline measures, with the range of motion affected by a pre-surgical range of motion (estimate: 3.89) and positive expectations (estimate: 4.83). Anxiety was influenced by both pre-surgical (estimate: 0.48) and baseline anxiety levels (estimate: 0.64). Kinesiophobia demonstrated a trend toward significance, with baseline levels affecting post-surgical evolution (estimate: 0.77). Conclusions: Our results highlight the relationship between pre-surgical factors and post-surgical outcomes in orthognathic surgery patients. Pre-surgical range of motion and positive expectations were found to influence post-surgical range of motion, while pre-surgical anxiety levels impacted post-surgical anxiety evolution. Pre-surgical kinesiophobia also showed potential as a post-surgical kinesiophobia predictor, but further investigation is needed to confirm this relationship.
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OBJECTIVE: Magnetic resonance imaging-guided laser interstitial thermal therapy (MRIgLITT) has been proven safe and effective for the treatment of focal epilepsy of different etiologies. It has also been used to disconnect brain tissue in more extensive or diffuse epilepsy, such as corpus callosotomy and hemispherotomy. METHODS: In this study, we report a case of temporo-parieto-occipital disconnection surgery performed using MRIgLITT assisted by a robotic arm for refractory epilepsy of the posterior quadrant. A highly realistic cadaver simulation was performed before the actual surgery. RESULTS: The patient was a 14-year-old boy whose seizures began at the age of 8. The epilepsy was a result of a left perinatal ischemic event that caused a porencephalic cyst, and despite receiving multiple antiepileptic drugs, the patient continued to experience daily seizures which led to the recommendation of surgery. CONCLUSIONS: A Wada test lateralized language in the right hemisphere. Motor and sensory function was confirmed in the left hemisphere through magnetic resonance imaging functional studies and NexStim. The left MRIgLITT temporo-parieto-occipital disconnection disconnection was achieved using 5 laser fibers. The patient followed an excellent postoperative course and was seizure-free, with no additional neurological deficits 24 months after the surgery.
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Epilepsia Refractaria , Terapia por Láser , Imagen por Resonancia Magnética , Lóbulo Occipital , Procedimientos Quirúrgicos Robotizados , Humanos , Masculino , Epilepsia Refractaria/cirugía , Epilepsia Refractaria/diagnóstico por imagen , Adolescente , Terapia por Láser/métodos , Lóbulo Occipital/cirugía , Lóbulo Occipital/diagnóstico por imagen , Procedimientos Quirúrgicos Robotizados/métodos , Lóbulo Parietal/cirugía , Lóbulo Parietal/diagnóstico por imagen , Lóbulo Temporal/cirugía , Lóbulo Temporal/diagnóstico por imagen , Cirugía Asistida por Computador/métodos , Procedimientos Neuroquirúrgicos/métodosRESUMEN
We present a novel basin dataset for large-sample hydrological studies in Spain. BULL comprises data for 484 basins, combining hydrometeorological time series with several attributes related to geology, soil, topography, land cover, anthropogenic influence and hydroclimatology. Thus, we followed recommendations in the CARAVAN initiative for generating a truly open global hydrological dataset to collect these attributes. Several climatological data sources were used, and their data were validated by hydrological modelling. One of the main novelties of BULL compared to other national-scale datasets is the analysis of the hydrological alteration of the basins included in this dataset. This aspect is critical in countries such as Spain, which are characterised by rivers suffering from the highest levels of anthropisation. The BULL dataset is freely available at https://zenodo.org/records/10605646 .
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PURPOSE: To evaluate the usefulness of ictal electroencephalography (EEG)-combined functional magnetic resonance imaging ( MRI) (EEG-fMRI) in localizing epileptogenic zone in refractory neocortical focal epilepsy. METHODS: From the EEG-fMRI database of our institution including 62 adult patients, 14 (age 18-46 years) experienced some ictal event during the test. Data were segmented into 10-s blocks, and the results were analyzed by contrasting each block to the contiguous 10-s block from the onset of seizure onward, in all cases. In seizures lasting >10 s (five cases), a supplementary analysis was performed, contrasting each block to a baseline condition, in the framework of the general linear model (GLM) of analysis. Regions of activations were compared to results from the different techniques performed during presurgical evaluation, such as SISCOM, positron emission tomography (PET), and invasive subdural EEG monitoring. KEY FINDINGS: Regarding the structural MRI findings, nine cases presented some lesion, with blood oxygen level- dependent (BOLD) signal activation placed in the same location in eight of them (89%). SISCOM studies were performed in 11 patients; 5 were concordant with the increase in BOLD signal in a sublobar level, whereas in 3 cases the concordance was in a lobar level. Eleven patients underwent PET studies, being also concordant in a sublobar level in four of them and in a lobar level in four additional cases. Finally, invasive EEG evaluation was performed in three patients and all of them had the seizure-onset zone in the initial area of BOLD activation. SIGNIFICANCE: This study adds relevant information to support the integration of EEG-fMRI in the multidisciplinary presurgical workup in patients with refractory epilepsy.
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Mapeo Encefálico , Electroencefalografía , Epilepsia/patología , Epilepsia/fisiopatología , Imagen por Resonancia Magnética , Adolescente , Adulto , Corteza Cerebral/patología , Corteza Cerebral/fisiopatología , Electroencefalografía/métodos , Femenino , Humanos , Procesamiento de Imagen Asistido por Computador/métodos , Imagen por Resonancia Magnética/métodos , Masculino , Adulto JovenRESUMEN
PURPOSE: The aim of this study was to apply sequential analysis of electroencephalography-functional magnetic resonance imaging (EEG-fMRI) data to study the cortical substrates related to the generation of the interictal epileptiform activity (IEA) in patients with pharmacoresistant extratemporal epilepsy. METHODS: We analyzed fMRI data from 21 children, adolescents, and young adults patients who showed frequent bursts or runs of spikes on EEG, by using the sequential analysis method. We contrasted consecutive fixed-width blocks of 10 s to obtain the relative variations in cerebral activity along the entire fMRI runs. Significant responses (p < 0.05, family-wise error (FWE) corrected), time-related to the IEA recorded on scalp EEG, were considered potential IEA cortical sources. These results were compared with those from the fluorodeoxyglucose-positron emission tomography (FDG-PET), intracranial EEG (two patients), and surgery outcome (eight patients). KEY FINDINGS: The typical IEA was recorded in all patients. After the sequential analysis, at least one significant blood oxygen level-dependent (BOLD) response spatially consistent with the presumed epileptogenic zone was found. These IEA-related activation areas coincided when superimposed with the hypometabolism depicted by the FDG-PET. These data were also consistent with the invasive EEG findings. Epileptic seizures were recorded in eight patients. A subset of IEA-associated fMRI activations was consistent the activations at seizure-onset determined by sequential analysis. The inclusion of the IEA-related areas in the resection rendered the patients seizure-free (five of eight operated patients). SIGNIFICANCE: The EEG-fMRI data sequential analysis could noninvasively identify cortical areas involved in the IEA generation. The spatial relationship of these areas with the cortical metabolic abnormalities depicted by the FDG-PET and their intrinsic relationship regarding the ictal-onset zone could be useful in epilepsy surgery planning.
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Corteza Cerebral/fisiopatología , Epilepsia/diagnóstico , Epilepsia/fisiopatología , Adolescente , Adulto , Anticonvulsivantes/uso terapéutico , Niño , Preescolar , Electroencefalografía , Femenino , Fluorodesoxiglucosa F18 , Humanos , Procesamiento de Imagen Asistido por Computador , Imagen por Resonancia Magnética , Masculino , Oxígeno/sangre , Tomografía de Emisión de Positrones , Radiofármacos , Resultado del Tratamiento , Adulto JovenRESUMEN
PURPOSE: Extensive lesions of the posterior quadrant are a relevant cause of pediatric drug-resistant epilepsy. Early surgery is the best treatment in these cases, but conventional multilobar resections carry a significant risk in pediatric patients. Despite temporo-parieto-occipital (TPO) disconnection being the preferable technique due to the preservation of motor function, studies reporting long-term longitudinal outcomes are still limited. This study aims to analyze seizures and developmental outcomes after TPO disconnection. METHODS: A prospective analysis was carried out on 12 children who underwent TPO disconnection. RESULTS: TPO disconnection was performed in 12 pediatric patients aged between 14 months and 18 years (median 6.29 years). The average age of seizure onset was 0.97 ± 1.22 years. Causes of TPO included perinatal ischemia in 4 patients and malformation of cortical development (MCD) in 8 patients. The presenting seizure types were focal motor impaired awareness seizures in 7 children and generalized in 5. The affected hemisphere was the right in 9 patients and the left in 3. In half of the patients, the temporal approach was performed through T1, and in the other 50%, it was performed through T2. After neuropsychological examination, 2 children improved, 7 remained stable, 2 patients presented stagnation and 1 declined. Regarding postoperative complications, nonresorptive hydrocephalus and an asymptomatic caudate nucleus infarct were observed. After a median follow-up of 2 years, 9 patients were in Engel's Class I seizure outcome. CONCLUSION: TPO disconnection is a safe and effective motor-sparing epilepsy surgery for children with refractory seizures located in the posterior quadrant that prevents further cognitive deterioration.
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Epilepsia Refractaria , Epilepsias Parciales , Epilepsia , Niño , Humanos , Lactante , Preescolar , Resultado del Tratamiento , Estudios Retrospectivos , Epilepsia/cirugía , Epilepsia/etiología , Convulsiones , Epilepsia Refractaria/cirugía , Electroencefalografía/efectos adversosRESUMEN
Coastal lagoons are ecosystems of high environmental importance but are quite vulnerable to human activities. The continuous inflow of pollutant loads can trigger negative impacts on the ecological status of these water bodies, which is contrary to the European Green Deal. One example is the Mar Menor coastal lagoon in Spain, which has experienced significant environmental degradation in recent years due to excessive external nutrient input, especially from non-point source (NPS) pollution. Mar Menor is one of the largest coastal lagoons of the Mediterranean region and a site of great ecological and socio-economic value. In this study, the highly anthropogenic and complex watershed of Mar Menor, known as Campo de Cartagena (1244 km2), was modelled with the Soil and Water Assessment Tool (SWAT) to analyse potential options for recovery of this unique system. The model was used to simulate several best management practices (BMP) proposed by recent Mar Menor regulations, such as vegetative filter strips, shoreline buffers, contour farming, removal of illegal agriculture, crop rotation management, waterway vegetation restoration, fertiliser management and greenhouse rainwater harvesting. Sixteen scenarios of individual and combined BMPs were analysed in this study. We found that, as individual measures, vegetative filter strips and contour farming were most effective in nutrient reduction: approximately 30 % for total nitrogen (TN) and 40 % for total phosphorus (TP). Moreover, waterway vegetation restoration showed the highest sediment (S) reduction at approximately 20 %. However, the combination of BMPs demonstrated clear synergistic effects, reducing S export by 38 %, TN by 67 %, and TP by 75 %. Selecting the most appropriate BMPs to be implemented at a watershed scale requires a holistic approach considering effectiveness in reducing NPS pollution loads and BMP implementation costs. Thus, we have demonstrated a way forward for enabling science-informed decision-making when choosing strategies to control NPS contamination at the watershed scale.
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Contaminación Difusa , Contaminantes Químicos del Agua , Humanos , Ecosistema , Monitoreo del Ambiente , Contaminación Difusa/análisis , Fósforo/análisis , Nitrógeno/análisis , Agricultura , Agua , Contaminantes Químicos del Agua/análisisRESUMEN
Climate change is simultaneously affecting lakes and their catchments, resulting in altered runoff patterns in the catchment and modified mixing and biogeochemical dynamics in lakes. The effects of climate change in a catchment will eventually have an impact on the dynamics of a downstream water body as well. An integrated model would allow considering how changes in the watershed affect the lake, but coupled modelling studies are rare. In this study we integrate a catchment model (SWAT+) and a lake model (GOTM-WET) to obtain holistic predictions for Lake Erken, Sweden. Using five different global climate models, projections of climate, catchment loads and lake water quality for the mid and end of the 21st century have been obtained under two future scenarios (SSP 2-45 and SSP 5-85). Temperature, precipitation and evapotranspiration will increase in the future, overall resulting in an increase in water inflow to the lake. An increasing importance of surface runoff will also have consequences on the catchment soil, hydrologic flow paths, and the input of nutrients to the lake. In the lake, water temperatures will rise, leading to increased stratification and a drop in oxygen levels. Nitrate levels are predicted to remain unchanged, while phosphate and ammonium levels increase. A coupled catchment-lake configuration such as that illustrated here allows prediction of future biogeochemical conditions of a lake, including linking land use changes to changing lake conditions, as well as eutrophication and browning studies. Since climate affects both the lake and the catchment, simulations of climate change should ideally take into account both systems.
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OBJECTIVE: Since 2007, the authors have performed 34 hemispherotomies and 17 posterior quadrant disconnections (temporoparietooccipital [TPO] disconnections) for refractory epilepsy at Sant Joan de Déu Barcelona Children's Hospital. Incomplete disconnection is the main cause of surgical failure in disconnective surgery, and reoperation is the treatment of choice. In this study, 6 patients previously treated with hemispherotomy required reoperation through open surgery. After the authors' initial experience with real-time MRI-guided laser interstitial thermal therapy (MRIgLITT) for hypothalamic hamartomas, they decided to use this technique instead of open surgery to complete disconnective surgeries. The objective was to report the feasibility, safety, and efficacy of MRIgLITT to complete hemispherotomies and TPO disconnections for refractory epilepsy in pediatric patients. METHODS: Eight procedures were performed on 6 patients with drug-resistant epilepsy. Patient ages ranged between 4 and 18 years (mean 10 ± 4.4 years). The patients had previously undergone hemispherotomy (4 patients) and TPO disconnection (2 patients) at the hospital. The Visualase system assisted by a Neuromate robotic arm was used. The ablation trajectory was planned along the residual connection. The demographic and epilepsy characteristics of the patients, precision of the robot, details of the laser ablation, complications, and results were prospectively collected. RESULTS: Four patients underwent hemispherotomy and 2 underwent TPO disconnection. Two patients, including 1 who underwent hemispherotomy and 1 who underwent TPO disconnection, received a second laser ablation because of persistent seizures and connections after the first treatment. The average precision of the system (target point localization error) was 1.7 ± 1.4 mm. The average power used was 6.58 ± 1.53 J. No complications were noted. Currently, 5 of the 6 patients are seizure free (Engel class I) after a mean follow-up of 20.2 ± 5.6 months. CONCLUSIONS: According to this preliminary experience, laser ablation is a safe method for complete disconnective surgeries and allowed epilepsy control in 5 of the 6 patients treated. A larger sample size and longer follow-up periods are necessary to better assess the efficacy of MRIgLITT to complete hemispherotomy and TPO disconnection, but the initial results are encouraging.
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Epilepsia Refractaria , Epilepsia , Terapia por Láser , Robótica , Niño , Humanos , Preescolar , Adolescente , Epilepsia Refractaria/diagnóstico por imagen , Epilepsia Refractaria/cirugía , Epilepsia Refractaria/etiología , Resultado del Tratamiento , Epilepsia/cirugía , Epilepsia/complicaciones , Imagen por Resonancia Magnética/métodos , Terapia por Láser/métodos , Rayos Láser , Estudios RetrospectivosRESUMEN
PURPOSE: Children with drug-resistant focal epilepsy have a compromised quality of life. Epilepsy surgery can control or significantly reduce the seizures. We assessed and compared the usefulness of PISCOM, a new nuclear imaging processing technique, with SISCOM and 18F-FDG PET (FDG-PET) in pre-surgical evaluation of paediatric drug-resistant focal epilepsy. METHODS: Twenty-two children with pharmcorefractory epilepsy, mainly extratemporal, who had undergone pre-surgical assessment including SISCOM and FDG-PET and with postsurgical favorable outcome (Engel class I or II) for at least two years, were included in this proof-of-concept study. All abnormalities observed in SISCOM, FDG-PET and PISCOM were compared with each other and with the known epileptogenic zone (EZ) based on surgical treatment, histopathologic and surgical outcome results. Global interobserver agreement, Cohen's Kappa coeficient and PABAK statistic were calculated for each technique. RESULTS: PISCOM concordance with the known EZ was significantly higher than SISCOM (p<0.05), and no statistically differences were found with FDG-PET. PISCOM showed successful identification in 19 of 22 cases (86%), successful concordant with FDG-PET in 17 (77%), and SISCOM in 11 (50%). If we consider PISCOM and FDG-PET results together, both techniques successfully localized the known EZ in all cases. The measures of agreement between two experts in nuclear medicine were higher in PISCOM than in SISCOM and FDG-PET. CONCLUSION: PISCOM could provide complementary presurgical information in drug-resistant paediatric focal epilepsy, particularly in cases in which FDG-PET is doubtful or negative, replacing SISCOM and sparing the use of interictal SPECT.
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Epilepsia Refractaria , Epilepsias Parciales , Epilepsia , Niño , Epilepsia Refractaria/diagnóstico por imagen , Epilepsia Refractaria/cirugía , Electroencefalografía , Epilepsias Parciales/diagnóstico por imagen , Epilepsias Parciales/cirugía , Epilepsia/cirugía , Fluorodesoxiglucosa F18 , Humanos , Imagen por Resonancia Magnética/métodos , Tomografía de Emisión de Positrones/métodos , Calidad de Vida , Tomografía Computarizada de Emisión de Fotón Único/métodosRESUMEN
OBJETIVE: Analyze pre-surgical evaluation modalities, surgical failures, long-term results of surgery and neurocognitive outcome in children with Low-grade Epilepsy Associated brain Tumors (LEAT). METHODS: Retrospective observational study of 37 children who underwent epilepsy surgery, with a minimum follow-up of 12 months. At time of surgery, pharmaco-sensitivity (Group 1; n = 8) and drug-resistance (Group 2; n = 29), were considered. RESULTS: Age range of seizure onset was 5 months-14 years (mean 5.73years) and age at surgery was 2.2-18.7years (mean 10.7years). Gangliogliomas (35.1%) or DNTs (29.7%), combined or not to a focal cortical dysplasia (FCD), were the most frequent. Extended lesionectomy 16 children (43.2%) were the most frequently used surgical approach in both groups. At one year of follow-up, 36 children (97.2%) were classified as Engel I. Within the age-range studied, duration of epilepsy and time to surgery appeared to have no impact on clinical and neurocognitive outcome in both groups. It is noteworthy, however, that antiseizure medications (ASMs) were withdrawn in 100% of the pharmacosensitive group vs 34.5% of the drug-resistant group (p = 0.002). In children with a pharmaco-sensitive epilepsy, neurocognitive evaluation showed significant improvement in the verbal comprehension index (p = 0.029). CONCLUSIONS: Epilepsy-surgery is a safe therapeutic option for LEATs including for children with seizures controlled by ASMs. Presence of associated lesions is not rare. Comprehensive pre-surgical evaluation increases the chances for control of the seizures, the early discontinuation of medications and favours neurocognitive development.
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Neoplasias Encefálicas , Epilepsia , Malformaciones del Desarrollo Cortical , Niño , Humanos , Lactante , Epilepsia/etiología , Epilepsia/cirugía , Epilepsia/patología , Neoplasias Encefálicas/complicaciones , Neoplasias Encefálicas/cirugía , Neoplasias Encefálicas/patología , Convulsiones/etiología , Convulsiones/cirugía , Encéfalo/patología , Malformaciones del Desarrollo Cortical/patología , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
INTRODUCTION: Genetic testing in people with epilepsy may support presurgical decision-making. It is currently unclear to what extent epilepsy centres use genetic testing in presurgical evaluation. METHODS: We performed an exploratory survey among members of the German Society for Epileptology to study the current practice of genetic testing in presurgical evaluation at the respective sites. Survey participants contributed educational case reports. RESULTS: The majority of participants consider genetic testing to be useful in individuals with familial syndromes or phenotypic features suggesting a genetic etiology. We report 25 cases of individuals with a confirmed genetic diagnosis that have previously undergone epilepsy surgery. Our cases demonstrate that a genetic diagnosis has an impact on both the decision-making process during presurgical evaluation, as well as the postoperative outcome. CONCLUSION: Genetic testing as part of the presurgical work-up is becoming increasingly established in epilepsy centres across Germany. mTORopathies and genetic hypothalamic hamartomas seem to be associated with a generally favourable surgical outcome. Synaptopathies and channelopathies may be associated with a worse outcome and should be considered on a case-by-case level. Prospective studies are needed to examine the impact of an established genetic diagnosis on postsurgical outcome.
Asunto(s)
Epilepsia , Epilepsia/diagnóstico , Epilepsia/genética , Epilepsia/cirugía , Pruebas Genéticas , Alemania , Humanos , Estudios ProspectivosRESUMEN
OBJECTIVE: Real-time, MRI-guided laser interstitial thermal therapy (MRgLITT) has been reported as a safe and effective technique for the treatment of epileptogenic foci in children and adults. After the recent approval of MRgLITT by the European Medicines Agency in April 2018, the authors began to use it for the treatment of hypothalamic hamartomas (HHs) in pediatric patients with the assistance of a robotic arm. In this study, the authors report their initial experience describing the surgical technique, accuracy of the robotic arm, safety, and efficacy. METHODS: The laser fiber was placed with the assistance of the stereotactic robotic arm. The accuracy of the robotic arm for this procedure was calculated by comparing the intraoperative MRI to the preoperative plan. Common demographic and seizure characteristics of the patients, laser ablation details, complications, and short-term seizure outcomes were prospectively collected. RESULTS: Sixteen procedures (11 first ablations and 5 reablations) were performed in 11 patients between 15 months and 17 years of age (mean age 6.4 years) with drug-resistant epilepsy related to HHs. The mean target point localization error was 1.69 mm. No laser fiber needed to be repositioned. The mean laser power used per procedure was 4.29 W. The trajectory of the laser fiber was accidentally ablated in 2 patients, provoking transient hemiparesis in one of these patients. One patient experienced postoperative somnolence and syndrome of inappropriate antidiuretic hormone secretion, and 2 patients had transient oculomotor (cranial nerve III) palsy. Fifty-four percent of the patients were seizure free after the first ablation (mean follow-up 22 months, range 15-33 months). All 5 patients who experienced an epilepsy relapse underwent a second treatment, and 4 remain seizure free at least 5 months after reablation. CONCLUSIONS: In the authors' experience, the robotic arm was sufficiently accurate for laser fiber insertion, even in very young patients. MRgLITT appears to be an effective treatment for selected cases of HH. MRgLITT for HH is a minimally invasive procedure with appealing safety features, as it allows delivery of energy precisely under real-time MRI control. Nonetheless, complications may occur, especially in voluminous HHs. The amount of delivered energy and the catheter cooling system must be closely monitored during the procedure. A larger sample size and longer follow-up duration are needed to judge the efficacy and safety of MRgLITT for HH more rigorously. This initial experience was very promising.
Asunto(s)
Epilepsia Refractaria , Epilepsia , Hamartoma , Terapia por Láser , Robótica , Adulto , Humanos , Niño , Hamartoma/diagnóstico por imagen , Hamartoma/cirugía , Imagen por Resonancia Magnética/métodos , Epilepsia/cirugía , Terapia por Láser/métodos , Epilepsia Refractaria/diagnóstico por imagen , Epilepsia Refractaria/cirugía , Resultado del TratamientoRESUMEN
The GRIA3 gene is located in the X chromosome and encodes for one of the subunits (iGluR3) of the alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR), an excitatory synaptic transmission receptor present in most parts of the brain. iGluR3 dysfunction has been associated with both abnormal memory formation and learning. It has been observed in patients with different neurological and cognitive disorders, including epilepsy. Three different de novo missense variants of GRIA3 have recently been reported in patients with Developmental and Epileptic Encephalopathy (DEE). We report on a female pediatric patient with DEE whose clinical picture mimicked structural epilepsy. We give a detailed description of our patient's most important electro-clinical features. Genetic analysis revealed that the patient carried a de novo missense variant in GRIA3 (c.2359G>A; p.Glu787Lys). The p.Glu787Lys variant had previously been reported in a male pediatric patient. Additionally, we studied iGluR3 expression in the patient and control fibroblasts. We found significantly lower iGluR3 expression in the patient's fibroblasts than in controls and different responses to glutamate treatment. In summary, our report expands knowledge of GRIA3 variants affecting boys and girls, describes functional studies of these variants, and provides an extensive review of the literature concerning GRIA3 genetic variants.