Child's Nervous System最新文献

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Stigma, seizure self-efficacy, and quality of life in children with epilepsy. 癫痫患儿的耻辱感、癫痫发作自我效能感和生活质量。
IF 1.3 4区 医学
Child's Nervous System Pub Date : 2024-11-01 Epub Date: 2024-08-30 DOI: 10.1007/s00381-024-06590-7
Seren Aydin, Gökçen Öz Tunçer, Şeyma Genç, Gülbahar Kurt Bayir, Ayşe Aksoy
{"title":"Stigma, seizure self-efficacy, and quality of life in children with epilepsy.","authors":"Seren Aydin, Gökçen Öz Tunçer, Şeyma Genç, Gülbahar Kurt Bayir, Ayşe Aksoy","doi":"10.1007/s00381-024-06590-7","DOIUrl":"10.1007/s00381-024-06590-7","url":null,"abstract":"<p><strong>Introduction: </strong>In addition to seizure care, it has been well-established that a holistic approach to the treatment of children with epilepsy that addresses the social, behavioral, and psychological dimensions also benefits their quality of life (QoL). The aim of this study was to investigate the patient and parental perceived stigma, seizure self-efficacy of children with epilepsy, and the relationship with quality of life in terms of sociodemographic and epilepsy-related factors.</p><p><strong>Method: </strong>The study group consisted of children, aged between 8 and 18 years and with a diagnosis of epilepsy of at least six months duration and their parents. Pediatric Quality of Life Inventory (PedsQL), Child-Parent Stigma Scales, and the Seizure Self-Efficacy Scale for Children (SSES-C) were used for evaluation.</p><p><strong>Results: </strong>One hundred and forty-four children (mean age 12.6 ± 2.9 years) took part, of whom 48.6% were female. The mean Child Stigma Scale score was 1.77 ± 0.82, Parent Stigma Scale score 2.41 ± 0.75, SSES-C score was 3.37 ± 0.98, and PedsQL score was 72.8 ± 18.6 for children self-reports (CsR) and 73.2 ± 18.8 for parent proxy-reports. The intraclass correlation coefficient for parent-child PedsQL indicated a good level of agreement. There was a significant negative correlation between the Child Stigma Scale and the PedsQL-CsR scores. A significant positive correlation was identified between the SSES-C scores and the PedsQL-CsR scores.</p><p><strong>Discussion: </strong>Perceptions of stigma in children with epilepsy and their parents were high in this study population. Of note, the elevated stigma perception reported by the patients had a detrimental impact on seizure self-efficacy. This relationship may affect the children's QoL and further complicates epilepsy management in this patient group.</p>","PeriodicalId":9970,"journal":{"name":"Child's Nervous System","volume":" ","pages":"3721-3728"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142104809","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Regression of Chiari malformation type 2 following early postnatal meningomyelocele repair-a retrospective observation from an institutional series of patients. 产后早期脑膜瘢痕修复术后Chiari畸形2型的消退--机构系列患者的回顾性观察。
IF 1.3 4区 医学
Child's Nervous System Pub Date : 2024-11-01 Epub Date: 2024-08-29 DOI: 10.1007/s00381-024-06586-3
Radek Frič, Mona Kristiansen Beyer, Bernt Johan Due-Tønnessen
{"title":"Regression of Chiari malformation type 2 following early postnatal meningomyelocele repair-a retrospective observation from an institutional series of patients.","authors":"Radek Frič, Mona Kristiansen Beyer, Bernt Johan Due-Tønnessen","doi":"10.1007/s00381-024-06586-3","DOIUrl":"10.1007/s00381-024-06586-3","url":null,"abstract":"<p><strong>Purpose: </strong>Spontaneous regression of Chiari malformation type 2 (CM2) is observed rarely, as CM2 is associated with meningomyelocele (MMC) that is surgically repaired either pre- or early postnatally. While the radiological regression of CM2 occurs frequently following prenatal repair of MMC, it has been reported in only a few studies after postnatal repair.</p><p><strong>Methods: </strong>From the consecutive series of children with postnatally repaired MMC, we reviewed the clinical and radiological data regarding CM2, particularly its regression either spontaneously or following CSF diversion.</p><p><strong>Results: </strong>Eighteen children underwent postnatal repair of MMC between February 2011 and April 2023. CM2 was present in 16 (89%), and hydrocephalus in 15 children (83%), requiring shunting in 14 of them. During the mean clinical observation time (from birth to April 2023) of 59 ± 51 months, three children with CM2 (19%) underwent 1-2 foramen magnum decompressions (FMD), five children (28%) 1-4 surgical untethering procedures and 13 children with shunted hydrocephalus (93%) 1-5 shunt revisions. Out of sixteen children with CM2, we observed regression of CM2 on MRI in only one case (6%) during the mean radiological follow-up (from birth to the last MRI taken) of 49 ± 51 months.</p><p><strong>Conclusion: </strong>In our experience, spontaneous regression of CM2 in children with postnatally repaired MMC occurs quite rarely. Pathophysiological mechanisms behind the development of CM2 in children with MMC remain unclear, but our observation supports the hypothesis of an association between the downward displacement of the hindbrain and the low intraspinal pressure secondary to CSF leakage in children born with MMC.</p>","PeriodicalId":9970,"journal":{"name":"Child's Nervous System","volume":" ","pages":"3641-3646"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11538272/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142104808","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Parental diagnosis of shunt malfunction in children. 家长对儿童分流器故障的诊断。
IF 1.3 4区 医学
Child's Nervous System Pub Date : 2024-11-01 Epub Date: 2024-09-06 DOI: 10.1007/s00381-024-06601-7
Katie Herbert, Alexander Lam, Aishik Mukherjee, Amy Drew, Fardad T Afshari
{"title":"Parental diagnosis of shunt malfunction in children.","authors":"Katie Herbert, Alexander Lam, Aishik Mukherjee, Amy Drew, Fardad T Afshari","doi":"10.1007/s00381-024-06601-7","DOIUrl":"10.1007/s00381-024-06601-7","url":null,"abstract":"<p><p>IntroductionEvaluation of shunt for malfunction and blockage is a common neurosurgical clinical scenario in day-to-day paediatric neurosurgery practice. Parental concern for shunt malfunction is normally considered a reliable indication for undertaking further assessment of a child with a shunt. Accuracy of parental diagnosis of shunt malfunction likely is dependent on combination of parental knowledge and patient symptomatology and familiarity of symptoms in relation to previous shunt malfunction symptoms. There are currently no UK studies on accuracy of parental diagnosis of shunt malfunction. We undertook this study to investigate sensitivity and specificity of parental diagnosis in our tertiary paediatric neurosurgical unit to identify any factors that can be used for further education and raising awareness in parents with children with shunts.MethodsWe undertook a review of all referrals with suspected shunt malfunction to our tertiary paediatric neurosurgical unit over a period of 10 months. All referrals and presentations were evaluated for parental concern for likelihood of shunt malfunction and marked as yes or no. Further information gathered included demographics, age, sex, symptoms at presentation, previous history of shunt revision, cases of shunt malfunction and part of the shunt revised. Sensitivity, specificity, positive and negative predictive values and accuracy were then calculated and factors associated with positive diagnosis of shunt malfunction analysed.ResultsOverall, 100 referrals with suspected shunt malfunction were made over 10 months period. Mean age for children at the time of referral was 6.3 years with an M/F ratio of 42M:58F. Twenty-one shunt malfunction cases were identified leading to overall revision rate of 21%. Parental evaluation of shunt function had sensitivity of 90.4%, specificity of 10.1%, positive predictive value of 21.1% and negative predictive value of 80%. Drowsiness and higher number of symptoms at presentation were associated with true positive diagnosis of shunt malfunction. No link was identified with true diagnosis of shunt malfunction with other symptoms of shunt malfunction or previous history of shunt revision and age of the patient.ConclusionParental diagnosis of shunt malfunction has high sensitivity and negative predictive value and low specificity and positive predictive value. Increased number of symptoms as well as drowsiness were associated with correct parental diagnosis of shunt malfunction. Educational programs and parental training can be valuable in increasing awareness about shunt malfunction signs.</p>","PeriodicalId":9970,"journal":{"name":"Child's Nervous System","volume":" ","pages":"3597-3600"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142139403","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Peripheral nerve injuries associated with dislocated supracondylar fractures of distal humerus in children: incidence and need of surgical treatment. 与儿童肱骨远端髁上骨折脱位相关的周围神经损伤:发生率和手术治疗的必要性。
IF 1.3 4区 医学
Child's Nervous System Pub Date : 2024-11-01 Epub Date: 2024-06-18 DOI: 10.1007/s00381-024-06497-3
Robert Chrenko, Martin Hanko, Marek Grega, Ľubomír Sýkora, René Jáger
{"title":"Peripheral nerve injuries associated with dislocated supracondylar fractures of distal humerus in children: incidence and need of surgical treatment.","authors":"Robert Chrenko, Martin Hanko, Marek Grega, Ľubomír Sýkora, René Jáger","doi":"10.1007/s00381-024-06497-3","DOIUrl":"10.1007/s00381-024-06497-3","url":null,"abstract":"<p><strong>Purpose: </strong>The objective of this study was to determine the incidence, necessity for neurosurgical intervention, and overall results of the treatment of pediatric peripheral nerve injuries associated with dislocated supracondylar fractures of the distal humerus.</p><p><strong>Method: </strong>A retrospective analysis of pediatric patients with supracondylar fractures treated from April 2019 to April 2022 with a minimum follow-up of 3 months was conducted.</p><p><strong>Results: </strong>Of 453 included patients, there were 51 recorded peripheral nerve injuries. The ulnar nerve was the most frequently injured nerve. Nine patients required neurosurgical intervention, with the most common procedure being the release of entrapped nerves. The combination of a supracondylar fracture and arterial injury was identified as a significant risk factor for peripheral nerve injury (p < 0.001). Only one patient experienced an unsatisfactory outcome.</p><p><strong>Conclusion: </strong>Although the prognosis for peripheral nerve injuries in children with supracondylar fractures is generally favorable, these injuries must be properly identified. We recommend an active neurosurgical approach in children with persisting neurological deficits to minimize the risk of permanent neurological impairment.</p>","PeriodicalId":9970,"journal":{"name":"Child's Nervous System","volume":" ","pages":"3771-3776"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141418085","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Microsurgical management of a ruptured intracranial mycotic aneurysm in infancy. 婴儿颅内霉菌性动脉瘤破裂的显微手术治疗。
IF 1.3 4区 医学
Child's Nervous System Pub Date : 2024-11-01 Epub Date: 2024-06-27 DOI: 10.1007/s00381-024-06505-6
Orlando Sánchez-Orbegoso, Jhon E Bocanegra-Becerra, Rolando Rojas-Apaza, José Cenzano-Ramos
{"title":"Microsurgical management of a ruptured intracranial mycotic aneurysm in infancy.","authors":"Orlando Sánchez-Orbegoso, Jhon E Bocanegra-Becerra, Rolando Rojas-Apaza, José Cenzano-Ramos","doi":"10.1007/s00381-024-06505-6","DOIUrl":"10.1007/s00381-024-06505-6","url":null,"abstract":"<p><strong>Introduction: </strong>During infancy, infectious aneurysms are uncommon and potentially fatal lesions with an imminent risk of intracranial hemorrhage development.</p><p><strong>Case presentation: </strong>A 1-month-old infant presented with loss of consciousness and clonic movements of the right superior limb after a work-up for Hirschsprung's disease. His physical exam revealed stupor, miosis, anterior fontanelle swelling, and hyperreflexia of the right superior limb. Blood cultures were positive for Candida albicans. In addition, brain imaging revealed an intraparenchymal hematoma in the left temporal lobe and a saccular aneurysm at the M3 segment of the left middle cerebral artery. Upon careful discussion with the patient's family, he underwent evacuation of the hematoma and aneurysm repair. His postoperative clinical course was uneventful. At the 5-month follow-up, a brain MRI showed encephalomalacia in the area of prior hemorrhage. Furthermore, he had preserved motor function and adequate psychomotor development on subsequent pediatric evaluations.</p><p><strong>Conclusion: </strong>Microsurgical management of ruptured mycotic aneurysms demands a systematic work-up and nuanced appraisal of clinical and aneurysmal factors. Operating in a confined space and considering the fragile nature of aneurysms are of utmost relevance for effectively treating these lesions.</p>","PeriodicalId":9970,"journal":{"name":"Child's Nervous System","volume":" ","pages":"3823-3827"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141466555","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Regional variations in morbidity and mortality among neonates with intraventricular hemorrhage: a national database analysis. 新生儿脑室内出血发病率和死亡率的地区差异:国家数据库分析。
IF 1.3 4区 医学
Child's Nervous System Pub Date : 2024-11-01 Epub Date: 2024-07-03 DOI: 10.1007/s00381-024-06514-5
Sumaiya Sayeed, Brianna C Theriault, Astrid C Hengartner, Paul Serrato, Sina Sadeghzadeh, Selma Belkasim, Nabihah Ahsan, Emad A Elsamadicy, Michael DiLuna, Aladine A Elsamadicy
{"title":"Regional variations in morbidity and mortality among neonates with intraventricular hemorrhage: a national database analysis.","authors":"Sumaiya Sayeed, Brianna C Theriault, Astrid C Hengartner, Paul Serrato, Sina Sadeghzadeh, Selma Belkasim, Nabihah Ahsan, Emad A Elsamadicy, Michael DiLuna, Aladine A Elsamadicy","doi":"10.1007/s00381-024-06514-5","DOIUrl":"10.1007/s00381-024-06514-5","url":null,"abstract":"<p><strong>Background: </strong>Intraventricular hemorrhage (IVH) often affects newborns of low gestational age and low birth weight, requires critical care for neonates, and is linked to long-term neurodevelopmental outcomes. Assessing regional differences in the U.S. in care for neonatal IVH and subsequent outcomes can shed light on ways to mitigate socioeconomic disparities.</p><p><strong>Methods: </strong>Using the 2016-2019 National Inpatient Sample (NIS), patients with a primary diagnosis of IVH were identified using ICD-10-CM codes. A retrospective cohort study was conducted with patients stratified by hospital region. Demographics, comorbidities, presentation, intraoperative variables, and inpatient outcomes were assessed. Multivariate logistic regression analyses were used to identify the impact of insurance status on extended LOS (defined as > 75<sup>th</sup> percentile of LOS), exorbitant cost (defined as > 75<sup>th</sup> percentile of cost), and mortality.</p><p><strong>Results: </strong>Included in this study were 1630 newborns with IVH. A larger portion of patients in the South and Midwest were Black, compared to the Northeast and West (Northeast: 12.2% vs Midwest: 30.2% vs South: 22.8% vs West: 5.8%, p < 0.001), while a greater percentage of patients in the West and South were Hispanic (Northeast: 7.3% vs Midwest: 9.5% vs South: 22.8% vs West: 36.2%, p < 0.001). LOS was similar among all regions. Factors associated with prolonged LOS included hydrocephalus and CSF diversions. Median total cost of admission was highest in the West, while the South was associated with decreased odds of exorbitant cost. LOS was associated with exorbitant cost, and large bed-volume hospital, VLBW, and permanent CSF shunt were associated with mortality.</p><p><strong>Conclusions: </strong>Demographic variables, but not presenting or intraoperative variables, differed among regions, pointing to possible geographic health disparities. The West had the highest total cost of admission, while the South was associated with reduced odds of exorbitant admission costs.</p>","PeriodicalId":9970,"journal":{"name":"Child's Nervous System","volume":" ","pages":"3571-3580"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141491089","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Managing medically refractory elevated intracranial pressure in a pediatric patient on ECMO: illustrative case. 治疗使用 ECMO 的儿科患者药物难治性颅内压升高:示例病例。
IF 1.3 4区 医学
Child's Nervous System Pub Date : 2024-11-01 Epub Date: 2024-07-24 DOI: 10.1007/s00381-024-06549-8
Tirone Young, Bahie Ezzat, Noah Nichols, Scott Aydin, Peter Pastuszko, Peter F Morgenstern
{"title":"Managing medically refractory elevated intracranial pressure in a pediatric patient on ECMO: illustrative case.","authors":"Tirone Young, Bahie Ezzat, Noah Nichols, Scott Aydin, Peter Pastuszko, Peter F Morgenstern","doi":"10.1007/s00381-024-06549-8","DOIUrl":"10.1007/s00381-024-06549-8","url":null,"abstract":"<p><strong>Purpose: </strong>We demonstrate the complexities of managing pediatric patients on extracorporeal membrane oxygenation (ECMO) therapy requiring neurosurgery, focusing on systemic anticoagulation, cardiac function, and medically refractory intracranial pressure (ICP).</p><p><strong>Methods: </strong>A 3.5-year-old female with Tetralogy of Fallot developed severe ischemic cerebral edema following post-operative cardiac arrest and required ECMO. This case, along with four additional cases of children requiring neurosurgery while on ECMO, was examined.</p><p><strong>Results: </strong>Emergency neurosurgical intervention in the primary case led to significant improvement, highlighting the delicate balance between managing ECMO-induced anticoagulation and urgent neurosurgical needs. The additional cases had variable outcomes, emphasizing the challenges of caring for these critically ill patients.</p><p><strong>Conclusion: </strong>Successful management of children requiring ECMO support and neurosurgical intervention requires thoughtful multidisciplinary care. This report illustrates some of the nuances in such decision-making, and demonstrates one potential path to a good outcome.</p>","PeriodicalId":9970,"journal":{"name":"Child's Nervous System","volume":" ","pages":"3843-3847"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141751219","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The role of pathogenic TCF12 variants in children with coronal craniosynostosis-a systematic review with addition of two novel cases. TCF12致病变体在冠状颅畸形患儿中的作用--系统综述及两例新病例。
IF 16.4 4区 医学
Child's Nervous System Pub Date : 2024-11-01 Epub Date: 2024-07-27 DOI: 10.1007/s00381-024-06544-z
Jon Foss-Skiftesvik, Carl Christian Larsen, Ulrik Kristoffer Stoltze, Thomas Kofod, Hanne Hove, Lars Bøgeskov, Elsebet Østergaard
{"title":"The role of pathogenic TCF12 variants in children with coronal craniosynostosis-a systematic review with addition of two novel cases.","authors":"Jon Foss-Skiftesvik, Carl Christian Larsen, Ulrik Kristoffer Stoltze, Thomas Kofod, Hanne Hove, Lars Bøgeskov, Elsebet Østergaard","doi":"10.1007/s00381-024-06544-z","DOIUrl":"10.1007/s00381-024-06544-z","url":null,"abstract":"<p><p>Craniosynostosis constitutes one of the most common congenital cranial malformations, affecting approximately 6/10,0000 live births. A genetic etiology has long been known for several forms of syndromic craniosynostosis, including pathogenic variants in TWIST1 and FGFR3 in children with Saethre-Chotzen and Muenke syndrome. Over the last decade, reports of genetic aberrations in TCF12 in children with craniosynostosis have emerged, in particular in cases with premature closure of the coronal suture(s). In this study, we, therefore, systematically reviewed the rapidly growing knowledge of TCF12-related coronal craniosynostosis, clearly illustrating its high degree of genotype and phenotype variability. With the two novel cases presented, at least 113 cases of TCF12-related coronal craniosynostosis have currently been reported. By pooling data from several prospectively collected undifferentiated craniosynostosis cohorts (n<sub>total</sub> = 770), we estimate a prevalence of pathogenic TCF12 variants of at least 2%. Overall, pathogenic germline variants in TCF12 are relatively frequent in children with coronal craniosynostosis, accounting for ∼10-20% of TWIST1- and FGFR1/2/3-negative cases, with even higher rates for bicoronal and syndromic cases. Genetic counseling is recommended for all children with craniosynostosis, and involvement of the coronal suture(s) should precipitate TCF12 testing.</p>","PeriodicalId":9970,"journal":{"name":"Child's Nervous System","volume":" ","pages":"3655-3671"},"PeriodicalIF":16.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141765640","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Atypical epidermoid cyst of the fourth ventricle with minimal diffusion-restriction. 第四脑室非典型表皮样囊肿,弥散限制极小。
IF 1.3 4区 医学
Child's Nervous System Pub Date : 2024-11-01 Epub Date: 2024-07-29 DOI: 10.1007/s00381-024-06553-y
Rose Fluss, Rianna Lo Bu, Mandana Behbahani
{"title":"Atypical epidermoid cyst of the fourth ventricle with minimal diffusion-restriction.","authors":"Rose Fluss, Rianna Lo Bu, Mandana Behbahani","doi":"10.1007/s00381-024-06553-y","DOIUrl":"10.1007/s00381-024-06553-y","url":null,"abstract":"<p><strong>Background: </strong>Epidermoid cysts are benign, slow growing extra-axial lesions most commonly found in the cerebellopontine angle that have a characteristic imaging pattern of restricted diffusion on diffusion-weighted imaging (DWI).</p><p><strong>Methods: </strong>A 10-year-old male with a history of asthma and diabetes was found to have a lesion within the fourth ventricle on a magnetic resonance imaging (MRI) brain study. MRI showed a well-circumscribed vermian lesion without contrast enhancement or restricted diffusion with mild hydrocephalus. He was referred to the neurosurgical service once he acutely developed symptoms of dizziness. He underwent a gross-total resection of the lesion on which histopathology confirmed an epidermoid cyst.</p><p><strong>Results: </strong>Here, we report a case of an atypical epidermoid cysts found in the midline of the fourth ventricle without restricted diffusion on MRI.</p><p><strong>Conclusion: </strong>Avid restricted-diffusion on DWI is usually pathognomonic for an epidermoid cyst when evaluating an extra-axial lesion, yet we report the second case in the literature of an epidermoid cyst without this classical imaging characteristic.</p>","PeriodicalId":9970,"journal":{"name":"Child's Nervous System","volume":" ","pages":"3865-3868"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141787360","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Biobank for craniosynostosis and faciocraniosynostosis, rare pediatric congenital craniofacial disorders: a study protocol. 罕见小儿先天性颅面疾病--颅骨畸形症和面颅骨畸形症生物数据库:研究方案。
IF 1.3 4区 医学
Child's Nervous System Pub Date : 2024-11-01 Epub Date: 2024-08-12 DOI: 10.1007/s00381-024-06555-w
Lucia De Martino, Peppino Mirabelli, Lucia Quaglietta, Ursula Pia Ferrara, Stefania Picariello, Domenico Vincenzo De Gennaro, Marco Aiello, Giovanni Smaldone, Ferdinando Aliberti, Pietro Spennato, Daniele De Brasi, Eugenio Covelli, Giuseppe Cinalli
{"title":"Biobank for craniosynostosis and faciocraniosynostosis, rare pediatric congenital craniofacial disorders: a study protocol.","authors":"Lucia De Martino, Peppino Mirabelli, Lucia Quaglietta, Ursula Pia Ferrara, Stefania Picariello, Domenico Vincenzo De Gennaro, Marco Aiello, Giovanni Smaldone, Ferdinando Aliberti, Pietro Spennato, Daniele De Brasi, Eugenio Covelli, Giuseppe Cinalli","doi":"10.1007/s00381-024-06555-w","DOIUrl":"10.1007/s00381-024-06555-w","url":null,"abstract":"<p><strong>Purpose: </strong>Craniosynostosis (CRS) is a rare congenital cranial malformation in which 1 or more cranial or facial sutures are fused in utero or rapidly fused in early infancy. The cranial sutures separate the skull bone plates and enable rapid growth of the skull in the first 2 years of life, in which growth is largely dictated by growth of the brain. CRS is a rare disease that occurs in 1 in 2100 to 1 in 2500 births and may be either nonsyndromic (also referred to as isolated) or syndromic. In syndromic CRS, other birth defects are present next to the CRS. The distinction between nonsyndromic and syndromic manifestations is made on the basis of dysmorphologic evaluation and genetic evaluation. Owing to advances in genetic diagnostics, nonsyndromic patients are increasingly recognized as syndromic patients. CRS treatment is almost entirely surgical and is sometimes paired with postoperative helmet therapy for maintenance. Corrective procedures are complex, long, and associated with the risk of numerous complications, including heavy blood loss and its sequelae. Although surgery may restore a normal appearance, even in nonsyndromic patients, patients may experience persistent deficits in intellectual ability and cognitive function. The European Commission (EC) has prioritized rare diseases in recent horizon European research programs; indeed, collections or even individual samples may be extremely valuable for research.</p><p><strong>Methods and results: </strong>Here, we present a study protocol in which the combined expertise of clinicians and researchers will be exploited to generate a biobank dedicated to CRS. The generation of the CRS biobank presented in this study will include the collection of different types of biological materials as well as advanced radiological images available to the scientific community.</p><p><strong>Conclusion: </strong>The activation of a CRS biobank will provide an opportunity to improve translational research on CRS and to share its benefits with the scientific community and patients and their families.</p>","PeriodicalId":9970,"journal":{"name":"Child's Nervous System","volume":" ","pages":"3693-3700"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11538127/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141916196","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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