Introdução
O que você precisa saber de cara
A crise gelástica, também conhecida como "epilepsia gelástica", é um tipo raro de crise epiléptica que envolve uma explosão súbita de energia, geralmente na forma de riso. Essa síndrome geralmente ocorre sem razão aparente e é incontrolável. É ligeiramente mais comum em homens do que em mulheres.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Crises gelásticas com hamartomas hipotalâmicos
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
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Publicações mais relevantes
International Consensus on the Evaluation and Management of Hypothalamic Hamartomas: Results From a Modified Delphi Survey.
Hypothalamic hamartomas (HH) are rare brain lesions associated with epilepsy and numerous comorbidities. Worldwide treatment is varied. There is a paucity of high-quality evidence to guide treatment. This study aimed to establish expert consensus on the evaluation and management of HH. A modified Delphi survey was designed by the Medical Advisory Board of Hope for Hypothalamic Hamartomas and was conducted among 17 International League Against Epilepsy level II epilepsy surgery centers. The survey included 257 questions in round 1 and 81 refined questions in round 2, covering domains of diagnosis, imaging, medical and surgical treatment, neuropsychological and psychiatric evaluation, and care. Consensus was defined as ≥75% agreement using a 9-point Likert scale. Consensus was achieved on 82% of the questions. Key findings include the following: Diagnosis: Gelastic and dacrystic seizures are strongly associated with HH; 3T epilepsy protocol MRI is essential. Evaluation: Preoperative neuropsychological and endocrinologic assessments are important. Evaluation with further imaging (PET, SPECT, and magnetoencephalography) and intracranial EEG is not useful. Treatment: No consensus was achieved on first-line, second-line, or third-line antiseizure medications (ASMs). Surgical evaluation should begin at the start of the first ASM, with surgery recommended after failure of 2 ASMs. LITT is preferred for Delalande II and III HH. Postoperative care: MRI follow-up at 6-12 months recommended. Preoperative and postoperative cognitive, behavioral, psychosocial, and endocrinologic evaluations are emphasized. Domains: IQ, language, attention, executive function, academic achievement, adaptive function, and behavior (tantrums, rage, anxiety, and depression) are important. This Delphi process highlights an international consensus on aspects of HH management. Gelastic/dacrystic seizures are important at diagnosis. A 3T epilepsy protocol MRI is essential. Early epilepsy surgery evaluation is advised. Surgery should be pursued either by disconnective, ablative, or resective techniques. HH location, size, and surgical experience are essential for good outcomes. Postoperative MRI should be obtained 6-12 months and/or if ongoing seizures. Neuropsychological testing should be obtained at baseline, and 6-12 months postsurgically. Findings support a multidisciplinary, protocol-driven approach to optimize outcomes in patients with HH. Areas lacking consensus, such as specific endocrine testing and timing of certain interventions, warrant further research and standardization.
Long-term outcomes of stereotactic radiofrequency ablation in hypothalamic hamartomas: A single-center experience.
Hypothalamic hamartomas (HHs) lead to refractory epilepsy, and minimally invasive surgical approaches are standard of care for affected patients. Stereotactic radiofrequency thermocoagulation (SRT) is one of the treatment methods recognized to achieve seizure freedom. This study reports surgical outcome from a single center reporting an ablation technique using fewer trajectories than previously reported and assesses the effect of coagulated volume on long-term seizure freedom. Retrospective analysis was made of all patients who underwent SRT at the University of Freiburg between 2016 and 2024 with a follow-up of ≥12 months. Statistical analysis was made of outcome dependent on type of hamartoma, seizure type, coagulation volume (based on magnetic resonance imaging evaluation), and epilepsy duration. Forty-three patients received SRT; 35 (22 children) had >12 months of follow-up, with a median of 38 months. Nine patients had two SRTs, and two patients had three SRTs. Twelve months after their last SRT, 60% of patients were seizure-free, 88.6% were free of bilateral tonic-clonic seizures, and 77.1% were free of gelastic seizures (last follow-up: 54.3% seizure-free, 88.6% free of bilateral tonic-clonic seizures, 74.3% free of gelastic seizures). There was a significant reduction of antiseizure medication (ASM) postsurgically, with an average number of ASMs of two prior to surgery and one after surgery. After 12 months, 14.3% of patients experienced ongoing but mostly mild surgical complications, with hypothalamic dysfunction being the most common. Coagulation volumes were higher in larger HHs, but no correlation was observed between coagulated volume and seizure freedom or complication rates. SRT is a minimally invasive method to successfully treat refractory seizures in patients with HH. Disconnection seems to be more important for successful treatment than volume reduction. Even large HHs can be successfully treated with small coagulation volumes.
Epileptic Tears: Two Cases of Ictal Crying with Intracranial Correlates.
Dacrystic seizure is a rare phenomenon of crying during an epileptic episode. It has an established connection to hypothalamic hamartoma, but was also reported to be associated with frontal and temporal epileptic foci. We present two cases of dacrystic epilepsy. Patient 1 had suffered from magnetic resonance imaging-negative epilepsy that was characterized by both gelastic and dacrystic seizures; stereo-encephalography showed onset in the anterior cingulate/Brodmann area 8 with rapid prefrontal and orbitofrontal propagation, leading to crying onset. Patient 2 had dacrystic seizures arising from a temporal lobe lesion with spreading to the orbitofrontal cortex. Both patients became seizure-free following resection targeting these networks. These cases represent intracranial correlates of dacrystic seizures occurring outside the context of hypothalamic hamartoma and suggest a central contribution of the anterior cingulate and/or orbitofrontal cortices in their generation.
Stereotactic radiofrequency thermocoagulation selectively targeting the subiculum for mesial temporal lobe epilepsy -Treatment concept and preliminary results.
The recently emerging laser interstitial thermal therapy is becoming a substitute treatment for mesial temporal lobe epilepsy (MTLE) due to its less invasiveness, but it offers lower seizure-free rates than traditional open surgery. Another less invasive stereotactic ablation surgery, that is radiofrequency thermocoagulation, is also an alternative surgical procedure. In particular, magnetic resonance imaging-guided stereotactic radiofrequency thermocoagulation (MRgSRFTC) has shown excellent seizure outcomes. Recently, the subiculum has been reported to have a more important role in the epileptic network in MTLE with hippocampal sclerosis. The present study aimed to demonstrate the technical details and feasibility of MRgSRFTC targeting mainly the subiculum for the treatment of MTLE. Two patients with right MTLE who underwent MRgSRFTC targeting the subiculum were evaluated. MRI-guided frame-based stereotactic surgery using a 2-mm-diameter rigid thermocoagulation probe was performed with a combination of multiple trajectories and coagulations (patient 1, four trajectories and 24 coagulations; patient 2, four trajectories and 20 coagulations) via one burr hole at the temporooccipital area. Both patients achieved good seizure outcomes (patient 1, Engel class IIA, follow-up for 24 months; patient 2, Engel class IA, follow-up for 20 months) without complications except for quadrant hemianopsia without subjective symptoms in patient 1. Tailored ablation of the subiculum by MRgSRFTC with multiple trajectories and coagulations can provide effective seizure control with minimal damage to the surrounding tissues. Further evaluation with more patients is required to confirm the validity of the present surgical strategy and procedure.
Optimized Stereo-Electroencephalography-Guided Three-Dimensional Radiofrequency Thermocoagulation for Hypothalamic Hamartomas-Related Epilepsy: A Single-Center Experience in 69 Patients.
The high risk of resection surgery for hypothalamic hamartoma (HH) epilepsy drives interest in minimally invasive treatment. Stereo-electroencephalography-guided three-dimensional radiofrequency thermocoagulation (SEEG-3D RFTC) offers an alternative option. We investigated this technology's efficacy, safety, and prognostic risk factors. Patients with HH who underwent SEEG-3D RFTC were retrospectively analyzed. A high-density focal stereo-array electrode implantation was adopted. SEEG-3D RFTC was performed between two contiguous contacts of the same electrode or adjacent contacts of different electrodes. Outcomes were separately evaluated for clinical seizures, gelastic seizures (GS), and non-gelastic seizures (nGS). Kaplan-Meier survival analysis was used to assess treatment effectiveness. Risk factors were analyzed using log-rank tests and Cox regression analyses. Sixty-nine patients were enrolled. The mean follow-up was 41.00 ± 18.19 months. Seizure freedom was obtained by 48/69 (69.57%) patients for clinical seizures, 50/62 (80.65%) patients for GS, and 41/54 (75.93%) patients for nGS. Surgical procedures were well tolerated. In this study, the proportion of patients experiencing long-term complications was 10.14%. The percentages of HH ablation (p = 0.003; hazard ratio 0.956, 95% confidence interval 0.928-0.985) and HH attachment ablation (p = 0.001; hazard ratio 0.931, 95% confidence interval 0.892-0.970) were significantly associated with seizure outcomes. Optimized SEEG-3D RFTC is an effective and safe option for HH-related epilepsy and is especially suitable for use where laser interstitial thermal therapy is unavailable. Complete ablation of the HH and attachment site is essential for good outcomes.
Publicações recentes
International Consensus on the Evaluation and Management of Hypothalamic Hamartomas: Results From a Modified Delphi Survey.
Endoscopic ultrasonic aspirator-assisted resection for pediatric hypothalamic hamartomas: outcomes and technical nuances.
New Pathogenic Variant in the GLI3 Gene in the First Colombian Patient Associated With Pallister-Hall Syndrome: A Clinical Report.
Long-term outcomes of stereotactic radiofrequency ablation in hypothalamic hamartomas: A single-center experience.
Imaging Characteristics of Hypothalamic Hamartomas in an Australian Paediatric Population.
📚 EuropePMC9 artigos no totalmostrando 153
International Consensus on the Evaluation and Management of Hypothalamic Hamartomas: Results From a Modified Delphi Survey.
NeurologyEpileptic Tears: Two Cases of Ictal Crying with Intracranial Correlates.
Clinical EEG and neuroscienceEndoscopic ultrasonic aspirator-assisted resection for pediatric hypothalamic hamartomas: outcomes and technical nuances.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryNew Pathogenic Variant in the GLI3 Gene in the First Colombian Patient Associated With Pallister-Hall Syndrome: A Clinical Report.
Molecular genetics & genomic medicineLong-term outcomes of stereotactic radiofrequency ablation in hypothalamic hamartomas: A single-center experience.
EpilepsiaStereotactic radiofrequency thermocoagulation selectively targeting the subiculum for mesial temporal lobe epilepsy -Treatment concept and preliminary results.
Clinical neurology and neurosurgeryImaging Characteristics of Hypothalamic Hamartomas in an Australian Paediatric Population.
Journal of medical imaging and radiation oncologyThe Present and Future of Laser Interstitial Thermal Therapy in Epilepsy Surgery.
Stereotactic and functional neurosurgeryOptimized Stereo-Electroencephalography-Guided Three-Dimensional Radiofrequency Thermocoagulation for Hypothalamic Hamartomas-Related Epilepsy: A Single-Center Experience in 69 Patients.
CNS neuroscience & therapeuticsNew insights to hypothalamic hamartoma syndrome.
Epilepsy & behavior : E&BDistinct gray matter and metabolic characteristics in hypothalamic hamartoma network with different semiology.
EpilepsiaCombined Gelastic and Dacrystic Seizures in a Child with Hypothalamic Hamartoma.
NeuropediatricsOptogenetically-induced sustained hypothalamic hyperexcitability impairs memory via thalamic spread.
EpilepsiaRobot-assisted MRI-guided laser interstitial thermal therapy for a giant sessile hypothalamic hamartoma in an 8-year-old boy: illustrative case.
Journal of neurosurgery. Case lessonsThe localizing value of mimic ictal semiology: A systematic review of the spectrum.
Epileptic disorders : international epilepsy journal with videotapeHypothalamic Hamartomas: A Narrative Review.
BiomedicinesStereo-electroencephalography pattern and long-term seizure outcome in hypothalamic hamartoma treated by radiofrequency thermocoagulation.
Journal of neurosurgeryPrimary Gamma Knife Radiosurgery as a Treatment Option for Hamartoma of Floor of Fourth Ventricle: A Case Report of Pediatric Hemifacial Spasm.
Pediatric neurosurgeryA proposed new classification system of hypothalamic hamartomas in the era of stereotactic ablation surgery.
Journal of neurosurgeryLaser interstitial thermal therapy for hypothalamic-hamartoma-related epilepsy: the long-term cognitive outcome of the first pediatric case in Europe.
Acta neurochirurgicaIctal and interictal epileptic networks of 34 patients with hypothalamic hamartoma on scalp electroencephalography.
Journal of neurophysiologyMagnetic Resonance-Guided Laser Interstitial Thermal Therapy in the Management of Hypothalamic Hamartomas: A Systematic Review and Meta-Analysis.
World neurosurgeryHamartomas of the Tuber Cinereum Associated with X-Linked Deafness Show Signs of Pubertas Tarda Instead of Pubertas Praecox and No Gelastic Seizures-Long-Term Follow-Up of 12 Years.
NeuropediatricsTemporal lobe malacia as a rare cause of gelastic seizure: A case report.
World journal of clinical casesGamma Knife Radiosurgery for Hypothalamic Hamartoma: A Multi-Institutional Retrospective Study on Safety, Efficacy, and Complication Profile.
NeurosurgeryGyratory Seizures in Hypothalamic Hamartoma.
Journal of epilepsy researchRobot-assisted laser interstitial thermal therapy for drug-resistant epilepsy in hypothalamic hamartoma.
Neurosurgical focus: VideoRobotic-guided radiofrequency ablative disconnection of hypothalamic hamartoma.
Neurosurgical focus: VideoSurgical and radiosurgical treatment of hypothalamic hamartoma: The Italian experience between 2011 and 2021.
Epilepsia openAn Unusual Case of Hypothalamic Hamartoma With Nongelastic Seizures and Posterior Cortex Connectivity.
Pediatric neurologyDirect resection is a safe and effective strategy to control seizures in patients with hypothalamic hamartoma.
Scientific reportsEpileptic encephalopathies secondary to hypothalamic hamartomas treated with radiosurgery: A case series.
Epileptic disorders : international epilepsy journal with videotapeIntraoperative changes in large-scale thalamic circuitry following laser ablation of hypothalamic hamartomas.
NeuroImage. ClinicalFull-Endoscopic Surgery for Hypothalamic Hamartoma Resection.
Journal of visualized experiments : JoVEMultimodal Approach for the Treatment of Complex Hypothalamic Hamartomas.
Advances and technical standards in neurosurgeryAdvances in epileptic network findings of hypothalamic hamartomas.
Journal of central nervous system diseaseComprehensive review of status gelasticus: Diagnostic challenges and therapeutic insights.
Epilepsy & behavior : E&B[Hypothalamic hamartoma dissection using focused ultrasound under MRI control. The first successful experience in Russia].
Zhurnal voprosy neirokhirurgii imeni N. N. BurdenkoNeural network mapping of gelastic behavior in children with hypothalamus hamartoma.
World journal of pediatrics : WJPHypothalamic hamartoma surgery in a setting with limited resources.
Epilepsy & behavior : E&BSecondary Amenorrhea Revealing a Giant Hamartoma of the Tuber Cinereum.
CureusAdvances in hypothalamic hamartoma research over the past 30 years (1992-2021): a bibliometric analysis.
Frontiers in neurologyEpilepsy surgery in patients with hypothalamic hamartomas - Population-based two-year and long-term outcomes.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyEpilepsy in hypothalamic hamartomas: semiology spectrum and predictor analyses of 78 patients.
Annals of clinical and translational neurologyIn vivo magnetic resonance spectroscopy for the differential diagnosis of a cerebral mass in a boy with precocious puberty: a case report and review of the literature.
Hormones (Athens, Greece)Laughter isn't always the best medicine, sometimes it's one of the symptoms.
Epilepsy & behavior reportsCorrelating Thermodynamics with Cognitive Outcomes in Magnetic Resonance-guided Laser Interstitial Thermal Therapy (MRgLITT) of a Pediatric Hypothalamic Hamartoma.
World neurosurgeryGelastic seizures and "smiling spasms": A peculiar ictal pattern.
Epileptic disorders : international epilepsy journal with videotapeAdult-onset hypothalamic hamartoma: origin of epilepsy?
Acta epileptologicaHypothalamic hamartoma: a cause of precocious puberty.
BMJ case reportsSelective surgical mamillo-thalamic tract disconnection in hypothalamic hamartoma results in complete disappearance of gelastic seizures.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryIctal semiology of gelastic seizures.
Epilepsy & behavior : E&BA clinical evaluation of gelastic and dacrystic seizures: a multicenter study.
Arquivos de neuro-psiquiatriaMagnetic Resonance-Guided Laser Interstitial Thermal Therapy for Hypothalamic Hamartoma: Surgical Approach and Treatment Outcomes.
Journal of clinical medicineImage-guided LINAC radiosurgery in hypothalamic hamartomas.
Frontiers in neurologyA novel technique for frame-based MR-guided laser ablation in an infant.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryCentral precocious puberty with hypothalamic hamartoma: the first case reports of 2 siblings with different phenotypes of Seckel syndrome 5.
Annals of pediatric endocrinology & metabolismHypothalamic hamartoma associated with polymicrogyria and periventricular nodular heterotopia in children: report of three cases and discussion of the origin of the seizures.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryComparison of Surgical Outcomes in Individuals With Hypothalamic Hamartoma Alone or With Other Potentially Epileptogenic Focal Lesions.
Pediatric neurologySporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.
Human molecular geneticsGiant cystic hypothalamic hamartoma in an infant associated with persistent syndrome of inappropriate antidiuretic hormone secretion.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryMicrosurgical Management of Complex Hypothalamic Hamartomas in the Era of Minimally Invasive Therapy: A Case Series and Narrative Review.
World neurosurgeryIncreased Gray Matter Density in the Right Mesencephalic Tegmentum Is Associated With Better Engel Classes I and II After Radiosurgery for Hypothalamic Hamartomas.
Neurosurgery18F-FDG-PET glucose hypometabolism pattern in patients with epileptogenic hypothalamic hamartoma.
Frontiers of medicineNon-robotized frameless stereotactic magnetic resonance guided laser interstitial thermal therapy for hypothalamic hamartoma.
Journal of neurosurgical sciencesLong-term seizure outcomes in patients with hypothalamic hamartoma treated by stereotactic radiofrequency thermocoagulation.
EpilepsiaMR imaging of hypothalamic hamartoma in a patient with gelastic seizures.
Radiology case reportsSurgical outcomes between temporal, extratemporal epilepsies and hypothalamic hamartoma: systematic review and meta-analysis of MRI-guided laser interstitial thermal therapy for drug-resistant epilepsy.
Journal of neurology, neurosurgery, and psychiatryGelastic seizures and the hypothalamic hamartoma syndrome: Epileptogenesis beyond the lesion?
Handbook of clinical neurologySuccessful stereoelectroencephalography-guided radiofrequency thermocoagulation in the treatment of a patient with mesial frontal region-originated mirthful gelastic seizure.
Clinical neurology and neurosurgeryExploring immunoreactivity of TTF-1 and AVP in hypothalamic hamartoma.
Clinical neuropathologyEpileptic hypothalamic hamartomas impact of topography on clinical presentation and radiosurgical outcome.
Epilepsy researchA systematic review of stereotactic radiofrequency ablation for hypothalamic hamartomas.
Journal of the neurological sciencesHamartoma of hypothalamus presented as precocious puberty and epilepsy in a 10-year-old girl.
International journal of surgery case reportsEcstatic and gelastic seizures related to the hypothalamus.
Epilepsy & behavior reportsGelastic Seizures and Hypothalamic Hamartoma.
Journal of neurosciences in rural practiceSuccessful Endoscopic Disconnection for Hypothalamic Hamartomas in a Child with Gelastic Seizures: An Unusual Case in a Resource-Scare Setting.
International medical case reports journalA prospective multicenter study of laser ablation for drug resistant epilepsy - One year outcomes.
Epilepsy researchOne-Stage High-Density Focal Stereo-Array SEEG-Guided Radiofrequency Thermocoagulation for the Treatment of Pediatric Giant Hypothalamic Hamartomas.
Frontiers in neurologyHypothalamic Hamartomas: A Comprehensive Review of Literature - Part 3: Updates on Radiotherapy Management.
Clinical neurology and neurosurgeryHypothalamic hamartomas: A comprehensive review of the literature - Part 1: Neurobiological features, clinical presentations and advancements in diagnostic tools.
Clinical neurology and neurosurgeryHypothalamic Hamartoma, Gray Matter Heterotopia, and Polymicrogyria in a Boy: Case Report and Literature Review.
World neurosurgeryHypothalamic Hamartomas: A comprehensive review of literature - Part 2: Medical and surgical management update.
Clinical neurology and neurosurgeryInappropriate Laughter in a Patient with Hypothalamic Hamartoma.
Sultan Qaboos University medical journalHypothalamic Hamartoma and Endocrinopathy: A Neurosurgeon's Perspective.
Neurology IndiaDistinguishing Dependent-Stage Secondary Epileptogenesis in a Complex Case of Giant Hypothalamic Hamartoma With Assistance of a Computational Method.
Frontiers in neurologyPre- and postnatal MR imaging of an asymptomatic giant hypothalamic hamartoma.
Radiology case reportsEcstatic and gelastic seizures relate to the hypothalamus.
Epilepsy & behavior reportsGelastic seizures: a retrospective study in five tertiary hospital centres.
Epileptic disorders : international epilepsy journal with videotapeSurgical treatment of hypothalamic hamartomas.
Neurosurgical reviewStereotactic radiofrequency thermocoagulation and resective surgery for patients with hypothalamic hamartoma.
Journal of neurosurgeryElectrophysiological properties and seizure networks in hypothalamic hamartoma.
Annals of clinical and translational neurologyDysembryoplastic neuroepithelial tumor presenting as a hypothalamic hamartoma in a child with gelastic seizures: case report.
Journal of neurosurgery. PediatricsA Simple Technique for Endoscopic Hypothalamic Hamartoma Disconnection in Refractory Epilepsy: 2-Dimensional Operative Video.
Operative neurosurgery (Hagerstown, Md.)Repeat stereotactic radiofrequency thermocoagulation in patients with hypothalamic hamartoma and seizure recurrence.
Epilepsia openStaged Magnetic Resonance-Guided Laser Interstitial Thermal Therapy for Hypothalamic Hamartoma: Analysis of Ablation Volumes and Morphological Considerations.
NeurosurgerySeizure outcome and prognostic factors for surgical management of hypothalamic hamartomas in children.
SeizureGelastic seizures not associated with hypothalamic hamartoma: A long-term follow-up study.
Epilepsy & behavior : E&BHypothalamic hamartomas in adulthood: Clinical spectrum and treatment outcome-A unicenter experience.
Brain and behaviorPathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma.
NeurologyEpisodes of prolonged "trance-like state" in an infant with hypothalamic hamartoma.
Annals of pediatric endocrinology & metabolismAsymmetric gelastic seizure as a lateralizing sign in patients with hypothalamic hamartoma.
Epilepsy & behavior : E&BA rare concurrence: gelastic seizures in a patient with right temporal nongalenic pial arteriovenous fistula.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryLaser interstitial thermotherapy (LiTT) in pediatric epilepsy surgery.
SeizureInappropriate Laughter and Behaviours: How, What, and Why? Case of an Adult with Undiagnosed Gelastic Seizure with Hypothalamic Hamartoma.
Hawai'i journal of medicine & public health : a journal of Asia Pacific Medicine & Public HealthA familial syndrome of hypothalamic hamartomas, polydactyly, and SMO mutations: a clinical report of 2 cases.
Journal of neurosurgery. PediatricsImprovement of Hypothalamic Hamartoma-Related Psychiatric Disorder After Stereotactic Laser Ablation: Case Report and Review of Literature.
World neurosurgeryCyberKnife® Radiosurgery as First-line Treatment for Catastrophic Epilepsy Caused by Hypothalamic Hamartoma.
CureusStereotactic laser ablation for nonlesional cingulate epilepsy: case report.
Journal of neurosurgery. PediatricsHypothalamic Hamartoma With Infantile Spasms: Case Report With Surgical Treatment.
Seminars in pediatric neurologyMR-guided laser ablation for the treatment of hypothalamic hamartomas.
Epilepsy researchStereotactic Radiofrequency Thermocoagulation of Hypothalamic Hamartoma Using Robotic Guidance (ROSA) Coregistered with O-arm Guidance-Preliminary Technical Note.
World neurosurgeryMagnetic Resonance Imaging-Guided Laser Interstitial Thermal Therapy for the Treatment of Hypothalamic Hamartomas: A Retrospective Review.
NeurosurgeryA novel use of the NeuroBlate SideFire probe for minimally invasive disconnection of a hypothalamic hamartoma in a child with gelastic seizures.
Journal of neurosurgery. PediatricsA case of pure gelastic seizures due to hypothalamic hamartoma with a benign course.
Epilepsy & behavior case reportsManagement of Epilepsy Due to Hypothalamic Hamartomas.
Pediatric neurologyEpileptologist's view: Laser interstitial thermal ablation for treatment of temporal lobe epilepsy.
Epilepsy researchHypothalamic hamartoma presenting with infantile spasms.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgerySuccessful surgical management of New Onset Refractory Status Epilepticus (NORSE) presenting with gelastic seizures in a 3 year old girl.
Epilepsy & behavior case reportsPredictors of cognitive function in patients with hypothalamic hamartoma following stereotactic radiofrequency thermocoagulation surgery.
EpilepsiaLaser Interstitial Thermal Therapy for Epilepsy.
Current neurology and neuroscience reportsPsychiatric comorbidity with hypothalamic hamartoma: Systematic review for predictive clinical features.
Epilepsy & behavior : E&BMedical management and antiepileptic drugs in hypothalamic hamartoma.
EpilepsiaSafety and efficacy of Gamma Knife radiosurgery in hypothalamic hamartomas with severe epilepsies: A prospective trial in 48 patients and review of the literature.
EpilepsiaCognition in epilepsy patients with hypothalamic hamartomas.
EpilepsiaHypothalamic hamartoma: Epileptogenesis beyond the lesion?
EpilepsiaLaser interstitial thermal therapy: A first line treatment for seizures due to hypothalamic hamartoma?
EpilepsiaHypothalamic hamartoma with epilepsy: Review of endocrine comorbidity.
EpilepsiaHypothalamic hamartoma: Neuropathology and epileptogenesis.
EpilepsiaClinical features and evolution of the gelastic seizures-hypothalamic hamartoma syndrome.
EpilepsiaEpilepsy surgery in children.
Neurology IndiaCongenital Hypothalamic "Hamartoblastoma" Versus "Hamartoma": Suggestions for Neuropathologic Terminology Emanating From a Mid-gestational Autopsy Case of Pallister-Hall Syndrome.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyCa2+ -permeable AMPA receptors associated with epileptogenesis of hypothalamic hamartoma.
EpilepsiaPure endoscopic management of epileptogenic hypothalamic hamartomas.
Neurosurgical reviewClinical features and postoperative seizure outcome in patients with drug-resistant gelastic seizures without hypothalamic hamartoma.
Epilepsy & behavior : E&BMagnetic resonance imaging-guided laser interstitial thermal therapy for previously treated hypothalamic hamartomas.
Neurosurgical focusMutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.
American journal of human geneticsGap Junctions Contribute to Ictal/Interictal Genesis in Human Hypothalamic Hamartomas.
EBioMedicineEpileptic network of hypothalamic hamartoma: An EEG-fMRI study.
Epilepsy researchNeurological complications after gamma-knife radiosurgery for hypothalamic hamartoma.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyLesional cerebellar epilepsy: a review of the evidence.
Journal of neurologyRobot Assisted Stereotactic Laser Ablation for a Radiosurgery Resistant Hypothalamic Hamartoma.
CureusUse of Gonadotropin-Releasing Hormone for Intractable Seizures in a Girl with Precocious Puberty without Hypothalamic Hamartoma.
The Journal of pediatricsHypothalamic hamartoma with neurofibrillary tangles.
Neuropathology : official journal of the Japanese Society of NeuropathologyAdult-onset refractory epilepsy with hypothalamic hamartoma and no gelastic seizures successfully treated by stereotactic thermocoagulation: A case report.
SeizureIctal electrographic pattern of focal subcortical seizures induced by sound in rats.
Brain researchStereotactic radiofrequency thermocoagulation for giant hypothalamic hamartoma.
Journal of neurosurgeryStereotactic Laser Ablation for Hypothalamic Hamartoma.
Neurosurgery clinics of North America[Hypothalamyc hamartomas: different ways of clinical debut. Cases report].
Archivos argentinos de pediatriaMRI-guided stereotactic radiofrequency thermocoagulation for 100 hypothalamic hamartomas.
Journal of neurosurgeryHamartoma of the optic nerve in a young child—case report and review of the literature.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryExtradural temporopolar approach for parahypothalamic hypothalamic hamartoma and use of posterior communicating artery as resection margin pointer.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryGelastic epilepsy: Beyond hypothalamic hamartomas.
Epilepsy & behavior case reportsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Crises gelásticas com hamartomas hipotalâmicos.
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Comunidades
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- International Consensus on the Evaluation and Management of Hypothalamic Hamartomas: Results From a Modified Delphi Survey.
- Long-term outcomes of stereotactic radiofrequency ablation in hypothalamic hamartomas: A single-center experience.
- Epileptic Tears: Two Cases of Ictal Crying with Intracranial Correlates.
- Stereotactic radiofrequency thermocoagulation selectively targeting the subiculum for mesial temporal lobe epilepsy -Treatment concept and preliminary results.
- Optimized Stereo-Electroencephalography-Guided Three-Dimensional Radiofrequency Thermocoagulation for Hypothalamic Hamartomas-Related Epilepsy: A Single-Center Experience in 69 Patients.
- Endoscopic ultrasonic aspirator-assisted resection for pediatric hypothalamic hamartomas: outcomes and technical nuances.
- New Pathogenic Variant in the GLI3 Gene in the First Colombian Patient Associated With Pallister-Hall Syndrome: A Clinical Report.
- Imaging Characteristics of Hypothalamic Hamartomas in an Australian Paediatric Population.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:86906(Orphanet)
- MONDO:0019484(MONDO)
- GARD:19084(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55788677(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
