OBJECTIVE: We comprehensively characterized a large pediatric cohort with focal cortical dysplasia (FCD) type 1 to expand the phenotypic spectrum and to identify predictors of postsurgical outcomes. METHODS: We included pediatric patients with histopathological diagnosis of isolated FCD type 1 and at least 1 year of postsurgical follow-up. We systematically reanalyzed clinical, electrophysiological, and radiological features. The results of this reanalysis served as independent variables for subsequent statistical analyses of outcome predictors. RESULTS: All children (N = 31) had drug-resistant epilepsy with varying impacts on neurodevelopment and cognition (presurgical intelligence quotient [IQ]/developmental quotient scores = 32-106). Low presurgical IQ was associated with abnormal slow background electroencephalographic (EEG) activity and disrupted sleep architecture. Scalp EEG showed predominantly multiregional and often bilateral epileptiform activity. Advanced epilepsy magnetic resonance imaging (MRI) protocols identified FCD-specific features in 74.2% of patients (23/31), 17 of whom were initially evaluated as MRI-negative. In six of eight MRI-negative cases, fluorodeoxyglucose-positron emission tomography (PET) and subtraction ictal single photon emission computed tomography coregistered to MRI helped localize the dysplastic cortex. Sixteen patients (51.6%) underwent invasive EEG. By the last follow-up (median = 5 years, interquartile range = 3.3-9 years), seizure freedom was achieved in 71% of patients (22/31), including seven of eight MRI-negative patients. Antiseizure medications were reduced in 21 patients, with complete withdrawal in six. Seizure outcome was predicted by a combination of the following descriptors: age at epilepsy onset, epilepsy duration, long-term invasive EEG, and specific MRI and PET findings. SIGNIFICANCE: This study highlights the broad phenotypic spectrum of FCD type 1, which spans far beyond the narrow descriptions of previous studies. The applied multilayered presurgical approach helped localize the epileptogenic zone in many previously nonlesional cases, resulting in improved postsurgical seizure outcomes, which are more favorable than previously reported for FCD type 1 patients.
- MeSH
- dítě MeSH
- elektroencefalografie * metody MeSH
- epilepsie MeSH
- fokální kortikální dysplazie MeSH
- kohortové studie MeSH
- kojenec MeSH
- lidé MeSH
- magnetická rezonanční tomografie * MeSH
- malformace mozkové kůry, skupina I * chirurgie komplikace diagnostické zobrazování MeSH
- malformace mozkové kůry chirurgie komplikace diagnostické zobrazování MeSH
- mladiství MeSH
- pozitronová emisní tomografie MeSH
- předškolní dítě MeSH
- refrakterní epilepsie * chirurgie diagnostické zobrazování patofyziologie MeSH
- výsledek terapie MeSH
- Check Tag
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
OBJECTIVE: Epilepsy surgery in the operculoinsular cortex is challenging due to the difficult delineation of the epileptogenic zone and the high risk of postoperative deficits. METHODS: Pre- and postsurgical data from 30 pediatric patients who underwent operculoinsular cortex surgery at the Motol Epilepsy Center Prague from 2010 to 2022 were analyzed. RESULTS: Focal cortical dysplasia (FCD; n = 15, 50%) was the predominant cause of epilepsy, followed by epilepsy-associated tumors (n = 5, 17%) and tuberous sclerosis complex (n = 2, 7%). In eight patients where FCD was the most likely etiology, the histology was negative. Seven patients (23%) displayed normal magnetic resonance imaging results. Seizures exhibited diverse semiology and propagation patterns (frontal, perisylvian, and temporal). The ictal and interictal electroencephalographic (EEG) findings were mostly extensive. Multimodal imaging and advanced postprocessing were frequently used. Stereo-EEG was used for localizing the epileptogenic zone and eloquent cortex in 23 patients (77%). Oblique electrodes were used as guides for better neurosurgeon orientation. The epileptogenic zone was in the dominant hemisphere in 16 patients. At the 2-year follow-up, 22 patients (73%) were completely seizure-free, and eight (27%) experienced a seizure frequency reduction of >50% (International League Against Epilepsy class 3 and 4). Fourteen patients (47%) underwent antiseizure medication tapering; treatment was completely withdrawn in two (7%). Nineteen patients (63%) remained seizure-free following the definitive outcome assessment (median = 6 years 5 months, range = 2 years to 13 years 5 months postsurgery). Six patients (20%) experienced corona radiata or basal ganglia ischemia; four (13%) improved to mild and one (3%) to moderate hemiparesis. Two patients (7%) operated on in the anterior insula along with frontotemporal resection experienced major complications: pontine ischemia and postoperative brain edema. SIGNIFICANCE: Epilepsy surgery in the operculoinsular cortex can lead to excellent patient outcomes. A comprehensive diagnostic approach is crucial for surgical success. Rehabilitation brings a great chance for significant recovery of postoperative deficits.
- MeSH
- dítě MeSH
- elektroencefalografie * MeSH
- epilepsie chirurgie diagnostické zobrazování MeSH
- kohortové studie MeSH
- kojenec MeSH
- lidé MeSH
- magnetická rezonanční tomografie MeSH
- malformace mozkové kůry chirurgie komplikace diagnostické zobrazování MeSH
- mladiství MeSH
- mozková kůra diagnostické zobrazování chirurgie MeSH
- neurochirurgické výkony metody MeSH
- předškolní dítě MeSH
- retrospektivní studie MeSH
- výsledek terapie MeSH
- Check Tag
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- MeSH
- cerebrovaskulární poruchy * diagnostické zobrazování klasifikace terapie vrozené MeSH
- diferenciální diagnóza MeSH
- lidé MeSH
- malformace nervového systému diagnostické zobrazování klasifikace patologie terapie MeSH
- novorozenec MeSH
- prognóza MeSH
- Check Tag
- lidé MeSH
- novorozenec MeSH
- Publikační typ
- přehledy MeSH
- MeSH
- kraniosynostózy * chirurgie diagnóza etiologie klasifikace MeSH
- lidé MeSH
- novorozenec MeSH
- prognóza MeSH
- Check Tag
- lidé MeSH
- novorozenec MeSH
- Publikační typ
- přehledy MeSH
Sagitální synostóza je nejčastějším typem izolované kraniosynostózy. Vede k abnormálnímu tvaru lebky, který je nutné korigovat operačně. Jednotlivé operační techniky se postupně vyvinuly na základě historického a medicínského vývoje. Cílem naší práce je přiblížit principy, benefity a limitace světově nejčastěji používaných operačních technik. V současné době neexistuje univerzální operační technika vhodná pro všechna věková rozhraní a všechny typy skafocefalií. Estetické a funkční výsledky se liší v rámci operačních technik a jednotlivých pracovišť. Některé otevřené a minimálně invazivní techniky mají srovnatelné estetické výsledky. Volba operační techniky by měla probíhat individuálně u každého pacienta.
Sagittal synostosis is the most common type of isolated craniosynostosis, resulting in an abnormal skull shape that requires surgical correction. Various surgical techniques have gradually evolved based on historical and medical advancements. The aim of our work is to present the principles, benefits, and limitations of the most commonly used surgical techniques worldwide. Currently, there is no universally applicable surgical technique suitable for all age groups and all types of scaphocephaly. Aesthetic and functional outcomes vary within surgical techniques and among different centers. Some open and minimally invasive techniques yield comparable aesthetic results. The choice of surgical technique should be made individually for each patient.
OBJECTIVE: Although genetic causes of drug-resistant focal epilepsy and selected focal malformations of cortical development (MCD) have been described, a limited number of studies comprehensively analysed genetic diagnoses in patients undergoing pre-surgical evaluation, their outcomes and the effect of genetic diagnosis on surgical strategy. METHODS: We analysed a prospective cohort of children enrolled in epilepsy surgery program over January 2018-July 2022. The majority of patients underwent germline and/or somatic genetic testing. We searched for predictors of surgical outcome and positive result of germline genetic testing. RESULTS: Ninety-five patients were enrolled in epilepsy surgery program and 64 underwent resective epilepsy surgery. We ascertained germline genetic diagnosis in 13/74 patients having underwent germline gene testing (pathogenic or likely pathogenic variants in CHRNA4, NPRL3, DEPDC5, FGF12, GRIA2, SZT2, STXBP1) and identified three copy number variants. Thirty-five patients underwent somatic gene testing; we detected 10 pathogenic or likely pathogenic variants in genes SLC35A2, PTEN, MTOR, DEPDC5, NPRL3. Germline genetic diagnosis was significantly associated with the diagnosis of focal epilepsy with unknown seizure onset. SIGNIFICANCE: Germline and somatic gene testing can ascertain a definite genetic diagnosis in a significant subgroup of patients in epilepsy surgery programs. Diagnosis of focal genetic epilepsy may tip the scales against the decision to proceed with invasive EEG study or surgical resection; however, selected patients with genetic focal epilepsies associated with MCD may benefit from resective epilepsy surgery and therefore, a genetic diagnosis does not disqualify patients from presurgical evaluation and epilepsy surgery.
- MeSH
- dítě MeSH
- epilepsie parciální * komplikace MeSH
- epilepsie * genetika chirurgie komplikace MeSH
- fibroblastové růstové faktory genetika MeSH
- genetické testování MeSH
- lidé MeSH
- malformace mozkové kůry * genetika MeSH
- prospektivní studie MeSH
- proteiny aktivující GTPasu genetika MeSH
- proteiny nervové tkáně genetika MeSH
- refrakterní epilepsie * diagnóza genetika chirurgie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
BACKGROUND: Tumors of the fourth ventricle are frequently treated pathologies in pediatric neurosurgery. Data regarding predictors for permanent neurological deficits, long-term functional outcomes, cerebellar mutism (CM), the extent of resection (EOR), and oncological outcomes are scarce. We attempt to contribute to this topic with an analysis of our institutional cohort. METHODS: A retrospective single-center study of patients aged ≤ 19 years who underwent primary surgical resection of a fourth ventricular tumor over a 15-year period (2006-2021). Predictors analyzed included age, gender, surgical approach, anatomical pattern, tumor grade, EOR, tumor volume, and others as appropriate. RESULTS: One hundred six patients were included (64 males, mean age 7.3 years). The rate of permanent neurological deficit was 24.2%; lateral tumor extension (p = 0.036) and tumor volume greater than 38 cm3 (p = 0.020) were significant predictors. The presence of a deficit was the only significant predictor of reduced (less than 90) Lansky score (p = 0.005). CM occurred in 20.8% of patients and was influenced by medulloblastoma histology (p = 0.011), lateral tumor extension (p = 0.017), and male gender (p = 0.021). No significant difference between the transvermian and telovelar approach in the development of CM was detected (p = 0.478). No significant predictor was found for the EOR. EOR was not found to be a significant predictor of overall survival for both low-grade and high-grade tumors; however, gross total resection (GTR) was protective against tumor recurrence compared to near-total or subtotal resection (p < 0.001). In addition, survival was found to be better in older patients (≥ 7.0 years, p = 0.019). CONCLUSION: The overall rate of postoperative complications remains high due to the eloquent localization. Older patients (> 7 years) have been found to have better outcomes and prognosis. Achieving GTR whenever feasible and safe has been shown to be critical for tumor recurrence. CM was more common in patients with medulloblastoma and in patients with tumors extending through the foramen of Luschka. The telovelar approach uses a safe and anatomically sparing corridor; however, it has not been associated with a lower incidence of CM and neurological sequelae in our series, showing that each case should be assessed on an individual basis.
- MeSH
- čtvrtá mozková komora diagnostické zobrazování chirurgie MeSH
- dítě MeSH
- lidé MeSH
- lokální recidiva nádoru chirurgie MeSH
- meduloblastom * chirurgie MeSH
- nádory mozečku * chirurgie etiologie MeSH
- neurochirurgické výkony škodlivé účinky MeSH
- pooperační komplikace epidemiologie etiologie chirurgie MeSH
- retrospektivní studie MeSH
- senioři MeSH
- výsledek terapie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- Publikační typ
- časopisecké články MeSH
Gliomas are the most common central nervous tumors in children and adolescents. However, spinal cord low-grade gliomas (sLGGs) are rare, with scarce information on tumor genomics and epigenomics. To define the molecular landscape of sLGGs, we integrated clinical data, histology, and multi-level genetic and epigenetic analyses on a consecutive cohort of 26 pediatric patients. Driver molecular alteration was found in 92% of patients (24/26). A novel variant of KIAA1549:BRAF fusion (ex10:ex9) was identified using RNA-seq in four cases. Importantly, only one-third of oncogenic drivers could be revealed using standard diagnostic methods, and two-thirds of pediatric patients with sLGGs required extensive molecular examination. The majority (23/24) of detected alterations were potentially druggable targets. Four patients in our cohort received targeted therapy with MEK or NTRK inhibitors. Three of those exhibited clinical improvement (two with trametinib, one with larotrectinib), and two patients achieved partial response. Methylation profiling was implemented to further refine the diagnosis and revealed intertumoral heterogeneity in sLGGs. Although 55% of tumors clustered with pilocytic astrocytoma, other rare entities were identified in this patient population. In particular, diffuse leptomeningeal glioneuronal tumors (n = 3) and high-grade astrocytoma with piloid features (n = 1) and pleomorphic xanthoastrocytoma (n = 1) were present. A proportion of tumors (14%) had no match with the current version of the classifier. Complex molecular genetic sLGGs characterization was invaluable to refine diagnosis, which has proven to be essential in such a rare tumor entity. Moreover, identifying a high proportion of drugable targets in sLGGs opened an opportunity for new treatment modalities.
- MeSH
- astrocytom * genetika MeSH
- dítě MeSH
- genomika MeSH
- gliom * genetika patologie MeSH
- lidé MeSH
- mitogenem aktivované proteinkinasy kinas MeSH
- mladiství MeSH
- nádory míchy * genetika MeSH
- nádory mozku * genetika MeSH
- protoonkogenní proteiny B-raf genetika MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- Publikační typ
- časopisecké články MeSH
Práce je zaměřena na využití neuroendoskopie v řešení vybraných vývojových vad CNS u dětí. Představuje neuroendoskopickou techniku, postupy a některé jednotky, vhodné k řešení neuroendoskopem v praxi dětského neurochirurga. Jedná se zejména o formy obstrukčního hydrocefalu, řešení hydrocefalu spojeného s vrozenými cévními malformacemi, řešení arachnoidálních cyst různé lokalizace. Zajímavostí je endoskopická resekce hypothalamického hamartomu, která je účinná v léčbě refrakterní epilepsie.
This paper focuses on the use of neuroendoscopy for treatment of selected central nervous system developmental defects in children. It introduces neuroendoscopic armamentarium, methods and some conditions suitable for a neuroendoscopic approach in pediatric neurosurgery.
- MeSH
- cévní malformace chirurgie MeSH
- dítě MeSH
- lidé MeSH
- malformace nervového systému * chirurgie MeSH
- neurochirurgické výkony MeSH
- neuroendoskopie metody MeSH
- vrozené vady chirurgie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- přehledy MeSH
