Journal of Pediatric Epilepsy最新文献

{"title":"Anti–Gamma Aminobutyric Acid B Autoimmune Encephalitis in an Indian Child with Early-Onset Seizures, Neurodegeneration, and Brain Calcification due to NRROS Variation: The First Reported Case Worldwide","authors":"Aritra Kapat, A. Pandit, Suman Das, D. Paul, A. K. Mandal, A. Bala","doi":"10.1055/s-0042-1758147","DOIUrl":"https://doi.org/10.1055/s-0042-1758147","url":null,"abstract":"Abstract A 1.5-year-old boy presented to us with a history of normal growth and developmental parameters until 6 months of age. However, at 7 months of age, he developed multiple types of seizures consisting initially of complex febrile seizures, followed by afebrile seizures. Multifocal clonic, generalized tonic–clonic, and myoclonic (multifocal and generalized) were the evolving seizure types. He had truncal hypotonia, but his appendicular hypotonia progressed to hypertonia over the next few months and further to decorticate posturing. Brain magnetic resonance imaging (MRI) showed generalized atrophy, predominantly frontotemporal, without any focal signal abnormalities or contrast enhancement. Computed tomography (CT) showed speckled calcification in subcortical white matter. Electroencephalogram showed bilateral frontotemporal epileptiform discharges with secondary generalization. His cerebrospinal fluid had normal cytology and biochemical results but was positive for anti–gamma aminobutyric acid B antibodies. Whole exome sequencing showed likely pathogenic, novel autosomal recessive homozygous variation of NRROS gene on chromosome 3 [c.1487G > A (p.Trp496Ter)], which impairs the functioning of anti-inflammatory cytokine transforming growth factor beta, resulting in a proinflammatory state within the central nervous system and thereby promoting autoimmune encephalitis. Parental Sanger sequencing validated the variation in both his parents. He was treated with both pulse methylprednisolone (30 mg/kg/day for 5 days) and intravenous immunoglobulin (2 g/kg), followed by slowly tapering of oral prednisolone and monthly intravenous immunoglobulin infusion (1 g/kg). There was significant reduction in seizure frequency and disappearance of epileptiform discharges from the electroencephalogram. However, the motor and cognitive improvement did not occur, and he had microcephaly and growth failure at the last follow-up. This is the 11th case report of neurodegeneration associated with NRROS gene variations, but the first report of autoimmune encephalitis being triggered by the variation in a child.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2022-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86111897","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of Bone Metabolism in Children Using Antiseizure Drugs: A Single-Center Experience and Review of the Literature","authors":"E. Tekin, Ülkü Gül, Sultan Aydın, A. Köksoy","doi":"10.1055/s-0042-1749343","DOIUrl":"https://doi.org/10.1055/s-0042-1749343","url":null,"abstract":"The effect of anti-seizure drugs (ASDs) on bone mineral density (BMD) is a controversial topic. This study investigated the effect of monotherapy and polytherapy drugs separately. Patients with a history of epilepsy treated with the same ASDs for more than 6 months were included in the study. Data regarding patient demographics, biochemical markers related to bone metabolism (calcium, phosphorus, alkaline phosphatase, parathyroid hormone, vitamin D), and BMD with dual-energy X-ray absorptiometry (DXA) were collected and compared. In total, 104 children with epilepsy using valproic acid (VPA), levetiracetam (LEV), carbamazepine (CBZ) alone or in combination and 22 healthy controls were evaluated. The ages of the children (64 boys, 62 girls) ranged between 2 and 17, with a mean of 9.50 ± 4.03 years. BMD or Z-scores did not differ among the monotherapy groups or between them and the polytherapy group. The lowest mean Z-score was in the VPA group but without statistical significance. Alkaline phosphatase levels were significantly higher in the group using CBZ. Calcium levels significantly differed between the groups (p = 0.001). The CBZ and LEV groups had the lowest calcium levels. However, phosphorus and vitamin D measurements did not significantly differ by ASDs used. Unfortunately, low vitamin D levels were evident in all children with epilepsy and even among controls. Physical activity, sun exposure, and calcium intake might be recommended in children treated with ACDs and in combination with additional risk factors monitoring via DXA should be considered. Further studies in a large population are necessary to judge which ASDs are more at risk to reduce bone mineralization than others.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2022-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80814911","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Writing and Reading Skills in Children with Benign Childhood Epilepsy with Centrotemporal Spikes: Systematic Review","authors":"Joana Teixeira, Maria Emília Santos, P. Oom","doi":"10.1055/s-0042-1749190","DOIUrl":"https://doi.org/10.1055/s-0042-1749190","url":null,"abstract":"In this study, we present the results from a systematic literature review that aimed to gather information about the writing and reading capacities of children with benign childhood epilepsy with centrotemporal spikes. This research comprises studies published between 2005 and 2016 in PubMed, Science Direct, and PsycInfo that included the keywords “benign childhood epilepsy with centrotemporal spikes”/ “rolandic epilepsy” with “written language”/ “reading” / “writing” / “literacy”/ “learning disabilities.” The study selection criteria were: (i) conducted with children with this epileptic syndrome aged between 5:11 and 16; (ii) involving children with active epilepsy or in remission; (iii) assessing written language or learning skills involving reading and writing; and (iv) published in journals with scientific refereeing. From the articles that met all the criteria defined, we compiled and synthesized the information about written language abilities. Reading problems appear to have higher incidence in this population, mostly with regard to the speed and reading accuracy and the ability to comprehend a written text. Fewer limitations were found in writing skills, but some studies showed difficulties in words writing, punctuation/ accentuation, and spontaneous writing coherence and cohesion. We also found disparities in the results regarding the relationship between writing skills and the clinical variables associated with epilepsy. Despite the heterogeneity of this population, it was possible to synthesize and define more precisely the written language variations presented. However, more concrete information is needed about written language disorders in this population, to present valid data to support clinical and pedagogical practices.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2022-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80330317","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Social Skills Differences in Children with Epilepsy and Nonepileptic Seizures","authors":"Ashley J. Levan, Ollie Fegter, S. Gale","doi":"10.1055/s-0042-1750303","DOIUrl":"https://doi.org/10.1055/s-0042-1750303","url":null,"abstract":"Research has shown that children experiencing epileptic seizures (ES) or non-ESs (NES) exhibit cognitive and behavioral deficits, but no research has examined social skills differences between the two groups. A better understanding of social skills differences between these two groups might allow for the development of more targeted interventions. The purpose of this study was to examine social skills differences between children with ES and children with NES, using the Social Skills Improvement Scale (SSIS). A total of 43 children were recruited from the epilepsy monitoring units at Phoenix Children's Hospital and Primary Children's Medical Center. The epilepsy group consisted of 28 participants (50% female, mean age at testing = 11.79, standard deviation [SD] = 3.12), and the NES group consisted of 15 participants (67% female; mean age at testing = 12.62, SD = 3.33). Parents and children completed the SSIS Rating Scales. No group differences were found between children with ES and children with NES on social skills measures. However, children in both groups rated their social skills as being in the average range, while parents of children in both groups rated their children's social skills as being in the below average range. Limitations to this study and directions for future research are discussed.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2022-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80300110","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epilepsy and the Quran Recitation as a Meditation","authors":"H. Çaksen","doi":"10.1055/s-0042-1756438","DOIUrl":"https://doi.org/10.1055/s-0042-1756438","url":null,"abstract":"Complementary and alternative medicine (CAM) is one of the various approaches intended to improve or maintain human health that are not part of standardmedical care, also known as conventional or Western medicine.1 Meditation, one of the techniques of CAM, is a practice in which an individual uses a technique—such as mindfulness, or focusing the mind on a particular object, thought, or activity—to train attention and awareness and achieve a mentally clear and emotionally calm and stable state. In Islam, there are different meditative techniques such as salah, dhikr, fikr, muraqabah, tafakkur, tadabbur, and whirling.2 Recently, the use of various CAMs such as meditation, yoga, relaxation techniques, biofeedback, nutritional and herbal supplements, dietary measures, chiropractic care, acupuncture, Reiki, and homeopathy has increased in patients with epilepsy.3 The Quran is the instructor, true wisdom, guide, and leader of the world of humanity; it is both a book of wisdom and law, a book of prayer and worship, a book of command and summons, and a book of invocation and divine knowledge—it is a book for all spiritual needs, and it is a sacred library offering books appropriate to theways of all the saints and veracious, the purified and the scholars, whoseways and paths are all different.4 So, listening, reading, and recitation of the Quran is also a kind of meditation. Herein, we discussed using the Quran as a cure and remedy in patients with epilepsy to emphasize that the Quran recitation is a meditation modality. Meditation is commonly used in patients with epilepsy. In the series of McConnell et al,5 overall CAM usewas 70%, with the use of prayer/spirituality in 31% and meditation in 19%. Of the patients, 44% reported improved seizure control with CAM. Stress management accounted for perceived seizure reduction in 74%, followed by marijuana (54%), prayer (49%), and yoga (42%).5 Asadi-Pooya et al6 found that 72.3% of physicians believed that CAM might be helpful in patients with epilepsy. They also noted that 22.3% of participants used/prescribed CAM to patients with epilepsy; among them, 46.5% of people found CAM to be safer than conventional antiseizure medications. The most common endorsed CAM includedmeditation (41%), and the ratio of prayers was 15%.6 Aburahma et al7 reported that 56% of parents had used CAM for their child’s neurological illness (28% of patients had epilepsy). The most common modality (77%) was prayer/reciting the Quran.7 In another series, the prevalence of CAM usage was 42% among pediatric neurology patients (40% of patients had epilepsy), and the most common (66%) type of CAM was the Quran recitation.8 Triki et al9 studied people’s knowledge and attitudes toward epilepsy, of whom 43.6% had a personal or familial history of epilepsy. The two most popular therapeutic modalities were drug treatment alone (85.3%) and associated with the Quran (35.3%).9 In a large series, 31.5% of individuals believed that epilepsy could be t","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2022-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90622733","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of Patients Presenting to the Pediatric Emergency Department with Seizures during the COVID-19 Pandemic","authors":"E. Tekin, Betul Diler Durgut, H. Akoğlu","doi":"10.1055/s-0042-1746429","DOIUrl":"https://doi.org/10.1055/s-0042-1746429","url":null,"abstract":"The coronavirus disease 2019 pandemic has led to significant changes in hospital visits worldwide. The admission rates have remarkably decreased. This study investigates the characteristics of 104 patients (54 girls, 50 boys) who presented to our pediatric emergency department (ED) with seizures during the pandemic between May 2020 and May 2021. Regarding seizure type, 84 generalized and 20 focal seizures had occurred. Tonic, tonic–clonic, clonic, and hypomotor seizures were seen in descending order. Thirty-seven patients were diagnosed with epilepsy, and 32 patients with first afebrile, 25 first febrile, and 10 recurrent febrile seizures. No patients had acute symptomatic seizures. In 85 patients, the seizures had stopped before the ED visit; only one lasted >60 minutes. Benzodiazepines were administered as a first-line drug. Demographical features, electroencephalogram (EEG), and cranial imaging findings, laboratory test results, and distribution by month and by the hour of ED visit were analyzed. Study data was in accordance with the literature by seizure types, seizure management, and cranial imaging rates but differed by distribution in terms of month and the hour of ED visit. The EEG abnormality rate was higher among the first afebrile seizure cases. The number of patients with seizures was 69, that is, 0.3% of emergency admissions, for the 4 months of 2019 before the pandemic, and 104, that is, 0.4% of emergency admissions for the whole initial year of the pandemic thereafter. So, the number of patients with seizures had decreased, but their rate had increased, which could be attributed to a decrease in the number of nonurgent presentations to the ED during the pandemic.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2022-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79424873","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Retrospective Study of the Profile and Outcome of Children with Dravet Syndrome in a Tertiary Care Hospital of Southern India","authors":"Bidisha Banerjee, S. M. Prabhu, Gowthami Lagudu, Mitesh Shetty, S. Hegde","doi":"10.1055/s-0042-1758660","DOIUrl":"https://doi.org/10.1055/s-0042-1758660","url":null,"abstract":"Abstract Objective  Dravet syndrome (DS) is an epileptic syndrome that shares similarities with febrile seizures (FS), especially before 1 year of age, making it challenging to differentiate the two. We describe the profile of DS, with emphasis on the first year of life that can aid in early diagnosis. Methods  The clinical, investigative, treatment, and outcome profiles of DS patients presenting to the outpatient department (OPD) between October 2016 and December 2021 in a single tertiary care center in South India were analyzed. Results  Seventeen children were studied, with median age at presentation of 30 (interquartile range [IQR] 10, 47) months. The median age at seizure onset was 5 (IQR 3, 6) months. First seizure semiology were generalized tonic-clonic (GTCS) (35.3%), focal (52.9%), and myoclonic (11.8%). Fever preceding first seizure was seen in 76.5%. Status epilepticus (SE; ≥30 minutes) and prolonged seizures (>10 minutes) were seen in 41.2% each, and >5 seizures were seen in 82.4% in the first year of life. The most frequent subsequent seizure types were focal seizures (76.5%) and GTCS (76.5%). Other seizure triggers included vaccination (52.9%), light (17.6%), and Hot-bath (5.8%). Delayed developmental milestones for age were found in 52.9% at diagnosis. Magnetic resonance imaging (MRI) brain and electroencephalogram were normal in 76.4% each. Pathogenic/likely pathogenic variants in SCN1A gene were seen in 64.7%. Average of 3.9 anti-seizure medications were used. After optimization of treatment seizure frequency reduced in 40% and 4/15 (26.6%) had SE. Conclusion  In addition to characteristic clinical profile of DS we observed atypical presentations: an earlier age of seizure onset and afebrile seizure at onset. Delayed diagnosis was noted. Seizure control improved and SE reduced on optimal treatment.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2022-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87414960","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Cost Analysis of a 7-Year Cross-Section of Patients with Epilepsy in a Single-Center Child Neurology Outpatient Clinic: A Descriptive Retrospective Analysis","authors":"Arzu Yılmaz","doi":"10.1055/s-0042-1746428","DOIUrl":"https://doi.org/10.1055/s-0042-1746428","url":null,"abstract":"The cost analysis of the 7-year cross-section of the patients in pediatric neurology outpatient clinic including patients with foreign nationality was investigated retrospectively. Between January 10, 2013 and January 10, 2020, the total number of applicants, the nationalities of the patients, and the hospital cost were analyzed. Of 3,338 patients, aged between 0 and 20 years with mean age of 8.7 years at admission to the child neurology had received 17,476 clinical examinations. Of these, 51.6% were male and 93.5% cases were Turkish patients (n = 3,122), with 6.5% foreign nationals (n = 216). There was no difference in terms of gender between nationalities (p > 0.05). The total cost of cases with epilepsy was 1,312,427.73 Turkish Lira (TRY) and 6.2% account belonged to foreign nationals, mostly from Iraq (3.6%, n = 119) and Syria (2.4%, n = 80). The highest proportion of foreigner admissions due to epilepsy was in 2018 (11.1%). Mean average of health expenditures for foreign nationals diagnosed with epilepsy was 6.2% with the highest expenditure in 2019 (27.750,06 TRY). The proportion of admissions for epilepsy was 27.6% (17,476/63,173) among all neurological admissions. The proportion of Turkish patients was 25.6% (6,181/63,173), and 3.8% (1,295/3,398) accounted for foreigners' admissions. The proportion of total epilepsy costs compared with the total neurological admissions was 30% (1.312.427,73 TRY/4.347.592,80 TRY) and among them, the expenditure proportion for epilepsy in Turkish patients compared with that of total foreigner admissions was 3.9% (80.416,44 TRY/201.490,515 TRY). Expenditures for evaluating of epileptic children with foreign nationality cover an average of 6.5% of the entire section of the health expenditures made for patients with the diagnosis of epilepsy in the pediatric neurology outpatient clinic over the 7-year period. Epilepsy accounts for 30% admissions among all neurological admissions with 3.9% belonging to foreign national admissions.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2022-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81391251","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Type III Sturge Weber Syndrome, An Uncommon Cause of Status Epilepticus","authors":"Juan Pablo Coronado-Lopez, Juan Felipe Coronado, J. F. Gomez-Urrego, Richard Londono-Chavez","doi":"10.1055/s-0042-1757917","DOIUrl":"https://doi.org/10.1055/s-0042-1757917","url":null,"abstract":"Abstract Introduction  Sturge Weber syndrome (SWS) is a rare neurocutaneous condition due to the mutation of the GNAQ gen. This condition is characterized by skin, eye, and brain compromise, but the type III only affects the brain, making it a challenging condition to diagnose. Clinical Case  A Hispanic 4 year-old female, with a history of complex febrile seizure in her medical records, presented to the emergency room in status epilepticus after 24 hours of upper respiratory symptoms. After a neurological and radiologic evaluation, SWS III was diagnosed, which led to a pharmacological adjustment for achieving control of the seizures, with a great clinical evolution. Discussion  The pathophysiology, diagnostics, and proper management of this disease are discussed. Conclusion  SWS is a rare neurocutaneous disease, usually diagnosed in patients with pathognomonic features, however it is important to know that type III SWS exists and represents a challenging diagnosis, leading to a time-race for starting proper management, considering that the outcome includes a better life-quality, a higher cognitive result, and reduced morbimortality.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2022-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76679303","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cerebellar Tubers in Tuberous Sclerosis Complex Patients: New Imaging Characteristics and the Relationship with Cerebral Tubers","authors":"A. Yogi, Y. Hirata, M. Linetsky, B. Ellingson, N. Salamon","doi":"10.1055/s-0042-1756717","DOIUrl":"https://doi.org/10.1055/s-0042-1756717","url":null,"abstract":"Abstract Objective  The imaging characteristics, evolution, and clinical features of cerebellar tubers in tuberous sclerosis complex (TSC) patients have not been well described. The purpose of this study is to investigate the imaging characteristics of cerebellar tubers, including their dynamic changes, and to evaluate the relationship with cerebral tubers in TSC patients. Materials and Methods  Two observers retrospectively reviewed 75 consecutive TSC patients to identify cerebellar tubers and to evaluate their imaging characteristics, including location, presence of retraction change, calcification, contrast enhancement, and the presence of an associated vascular anomaly, as well as dynamic changes in these characteristics. The number of cerebral tubers was compared between TSC patients with and without cerebellar tubers. Results  Twenty-five TSC patients with 28 cerebellar tubers were identified. All cerebellar tubers occurred within the lateral portions of the cerebellar hemispheres. Thirteen cerebellar tubers demonstrated calcification. Ten cerebellar tubers showed contrast enhancement, half of which demonstrated a zebra-like appearance. A vascular anomaly was associated with 12 tubers, one of which subsequently developed parenchymal hemorrhage. Fifteen cerebellar tubers demonstrated complex dynamic changes in size and contrast enhancement. Patients with cerebellar tubers had more cerebral tubers ( p  = 0.001). Conclusion  Cerebellar tubers demonstrate a specific distribution, suggesting a possible influence on higher brain function. The presence of an associated vascular anomaly may be an important imaging characteristic. Cerebellar tubers may be associated with a more severe manifestation of TSC, given their association with increased numbers of cerebral tubers. These findings may provide insights into the pathogenesis and clinical manifestations of cerebellar tubers in TSC patients.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2022-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74713867","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}