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Purpose While Ruptured Arteriovenous Malformation Grading Scale (RAGS) has recently been validated in children, the literature lacks validation on adults exclusively. Therefore, we aimed to determine the validity of RAGS on the external multicenter adult cohort and compare its accuracy with other scales. Methods A retrospective analysis was performed in five neurosurgical departments to extract patients who presented with the first episode of acute brain arteriovenous malformation (bAVM) rupture between 2012 and 2019. Standard logistic regression and area under the receiver operating curve (AUROC) calculations were performed to determine the value of the following scales: intracerebral hemorrhage (ICH), AVM-associated ICH (AVICH), Spetzler-Martin (SM), Supplemented SM (Supp-SM), Hunt and Hess (HH), Glasgow Coma Scale (GCS), World Federation of Neurological Surgeons (WFNS), and RAGS to predict change in categorical and dichotomized modified Rankin Scale (mRS) across three follow-up periods: within the 6 months, 6 months to 1 year, and above 1 year. Results Sixty-one individuals with a mean age of 43.6 years were included. The RAGS outperformed other grading scales during all follow-up time frames. It showed AUROC of 0.78, 0.74, and 0.71 at the first 6 months, between 6 and 12 months, and after 12 months of follow-up, respectively, when categorized mRS was applied, while corresponding values were 0.79, 0.76, and 0.73 for dichotomized mRS, respectively. Conclusion The RAGS constitutes a reliable scale predicting clinical outcomes following bAVM rupture among adults. Furthermore, the RAGS proved its generalizability across medical centers with varying treatment preferences.

This study aimed to systematically review the literature to determine the clinical utility and perspectives of diffusion tensor imaging (DTI) in the management of patients with brainstem cavernous malformations (BSCMs). PubMed, Embase, and Cochrane were searched for English-language articles published until May 10, 2021. Clinical studies and case series describing DTI-based evaluation of patients with BSCMs were included. Fourteen articles were included. Preoperative DTI enabled to adjust the surgical approach and choose a brainstem safe entry zone in deep-seated BSCMs. Preoperatively lower fractional anisotropy (FA) of the corticospinal tract (CST) correlated with the severity of CST injury and motor deficits. Postoperatively increased FA and decreased apparent diffusion coefficient (ADC) corresponded with the normalization of the perilesional CST, indicating motor improvement. The positive (PPV) and negative predictive value (NPV) of qualitative DTI ranged from 20 to 75% and from 66.6 to 100%, respectively. The presence of preoperative and postoperative motor deficits was associated with a higher preoperative resting motor threshold (RMT) and lower FA. A higher preoperative CST score was indicative of a lower preoperative and follow-up Medical Research Council (MRC) grade. DTI facilitated the determination of a surgical trajectory with minimized risk of WMTs' damage. Preoperative FA and RMT might indicate the severity of preoperative and postoperative motor deficits. Preoperative CST score can reliably reflect patients' preoperative and follow-up motor status. Due to high NPV, normal CST morphology might predict intact neurological outcomes. Contrarily, sparse and relatively low PPV limits the reliable prediction of neurological deficits.

Background Diffusion tensor imaging (DTI) application in Chiari malformation type I (CMI) is still poorly defined. This study aimed to systematically review the literature and propose perspectives toward the clinical application of DTI in CMI. Methods PubMed and Embase were searched for English-language articles published until October 20, 2020. Clinical studies and case series, evaluating fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD), or radial diffusivity values in patients with CMI, were included. Results Eight articles were included. Lower FA values were found at the syrinx level, which decreased with syrinx extent and intensity of symptoms, reflecting myelopathy severity. Decreased AD and MD in the middle cerebellar peduncles in symptomatic patients with CMI might explain the presence of cerebellar signs. Increased FA in various supratentorial structures positively correlated with pain severity. Worse performance in neuropsychological tests correlated with decreased FA, increased MD, and radial diffusivity, reflecting axonal degeneration. Postoperative FA decrease in the brainstem compression area reflects successful decompression. A positive correlation was found between the extent of tonsillar ectopia and increased FA, MD, and AD values, which could act as an early indicator of acute brainstem compression. Conclusions DTI might provide a valuable insight into the neurobiological foundation of symptomatic CMI presentation. The severity of white matter injury evident on DTI could serve as a reliable predictor of postoperative outcomes, therefore facilitating selection of appropriate surgical candidates. Postinterventional DTI reassessment might enable differentiation between unsuccessful surgical technique and irreversible myelopathy. The extent of tonsillar ectopia reflects the severity of microstructural brainstem injury.

OBJECTIVE The Chicago Chiari Outcome Scale (CCOS) serves as a standardized clinical outcome evaluation tool among patients with Chiari malformation type I (CM-I). While the reliability of this scale has been proven for pediatric patients, the literature lacks CCOS validation when used solely in adults. Therefore, this study aimed to determine the validity of the CCOS in an external cohort of adult patients. METHODS The authors retrospectively analyzed the medical records of symptomatic patients with CM-I who underwent posterior fossa decompression between 2010 and 2018 in six neurosurgical departments. Each patient was clinically assessed at the latest available follow-up. Gestalt outcome was determined as improved, unchanged, or worsened compared with the preoperative clinical state. Additionally, the CCOS score was calculated for each patient based on the detailed clinical data. To verify the ability of the CCOS to determine clinical improvement, the area under the receiver operating characteristic (AUROC) curve was evaluated. A logistic regression analysis using all four components of the CCOS (pain symptoms, nonpain symptoms, functionality, and complications) was performed to establish predictors of the improved outcome. RESULTS Seventy-five individuals with a mean age of 42 ± 15.32 years were included in the study. The mean follow-up duration was 52 ± 33.83 months. Considering gestalt outcome evaluation, 41 patients (54.7%) were classified as improved, 24 (32%) as unchanged, and 10 (13.3%) as worsened. All patients with a CCOS score of 14 or higher improved, while all those with a CCOS score of 8 or lower worsened. The AUROC was 0.986, suggesting almost perfect accuracy of the CCOS in delineating clinical improvement. A CCOS score of 13 showed high sensitivity (0.93) and specificity (0.97) for identifying patients with clinical improvement. Additionally, a meaningful correlation was found between higher CCOS scores in each component and better outcomes. Patient stratification by total CCOS score showed that those categorized as improved, unchanged, and worsened scored prevalently between 13 and 16 points, 10 and 12 points, and 4 and 9 points, respectively. CONCLUSIONS In this adult cohort, the CCOS was found to be almost perfectly accurate in reflecting postoperative clinical improvement. Moreover, all four CCOS components (pain symptoms, nonpain symptoms, functionality, and complications) significantly correlated with patient clinical outcomes.

Purpose Brainstem abscess is a rare condition accounting for merely 1% of brain abscesses incidence in the pediatric population. This study aimed to present a single patient with a pontine abscess and review the literature to highlight clinical features, diagnosis, and management of brainstem abscess. Methods The PubMed database was screened for English-language articles concerning pediatric brainstem abscess. We, therefore, identified 22 publications, which concisely depict 23 cases. Our study reports on the 24th pediatric patient diagnosed with that entity. All included reports were analyzed in terms of clinical presentation, diagnosis, management, and outcomes of described patients. Results There was slight women predominance (15:9), with a mean age of occurrence 6.4 years, ranging from 7 months to 16 years. Pons was the most common location of brainstem abscess, occurring in 75% of patients. Clinically, they mostly presented with cranial nerves palsy (79.2%), hemiparesis (66.7%), and pyramidal signs (45.8%). The classic triad of symptoms, including fever, headache, and the focal neurologic deficit was present in 20.8% of patients. Positive pus cultures were obtained in 61.1%. Streptococci and Staphylococci were the most frequently identified pus microorganisms. Outcomes were satisfactory, with a 79.2% rate of general improvement. Conclusions Neurosurgical aspiration is a safe and beneficial therapeutic method. It should always be considered and should promptly be performed when the conservative treatment is not successful and clinical deterioration occurs. Prognosis in pediatric brainstem abscess is generally favorable. Most patients recover with minor neurologic deficits or improve completely.

The objective of the study was to examine selected aspects of the functioning of children treated for hydrocephalus, with particular emphasis on their degree of independence. Analysis of the medical records of patients treated for hydrocephalus in the Department of Pediatric Neurosurgery in Katowice in 2000–2010. The Barthel scale was used to assess the children’s independence. Information on the children’s functioning was obtained directly from their parents using a questionnaire developed by the author. The parent group comprised 131 people, including 110 women (85%) and 21 men (15%). The study group comprised 131 children treated for hydrocephalus. In the examined group, 59 children (45%) were fully independent (first degree), 44 (34%) were partially independent (second degree) and 28 (21%) were completely dependent (third degree). Most of the children with congenital and post-inflammatory hydrocephalus attended the generally accessible school (public school), while the majority of the children with posthemorrhagic hydrocephalus attended rehabilitation and educational centers or special schools (p

Purpose: The craniometrics of head circumference (HC) and ventricular size are part of the clinical assessment of infants with hydrocephalus and are often utilized in conjunction with other clinical and radiological parameters to determine the success of treatment. We aimed to assess the effect of endoscopic third ventriculostomy (ETV) and shunting on craniometric measurements during the follow-up of a cohort of infants with symptomatic triventricular hydrocephalus secondary to aqueductal stenosis. Methods: We performed a post hoc analysis of data from the International Infant Hydrocephalus Study (IIHS)-a prospective, multicenter study of infants (< 24 months old) with hydrocephalus from aqueductal stenosis who were treated with either an ETV or shunt. During various stages of a 5-year follow-up period, the following craniometrics were measured: HC, HC centile, HC z-score, and frontal-occipital horn ratio (FOR). Data were compared in an analysis of covariance, adjusting for baseline variables including age at surgery and sex. Results: Of 158 enrolled patients, 115 underwent an ETV, while 43 received a shunt. Both procedures led to improvements in the mean HC centile position and z-score, a trend which continued until the 5-year assessment point. A similar trend was noted for FOR which was measured at 12 months and 3 years following initial treatment. Although the values were consistently higher for ETV compared with shunt, the differences in HC value, centile, and z-score were not significant. ETV was associated with a significantly higher FOR compared with shunting at 12 months (0.52 vs 0.44; p = 0.002) and 3 years (0.46 vs 0.38; p = 0.03) of follow-up. Conclusion: ETV and shunting led to improvements in HC centile, z-score, and FOR measurements during long-term follow-up of infants with hydrocephalus secondary to aqueductal stenosis. Head size did not significantly differ between the treatment groups during follow-up, however ventricle size was greater in those undergoing ETV when measured at 1 and 3 years following treatment.

The purpose of this study was to evaluate the reliability of motor evoked potentials (MEP), somatosensory evoked potentials (SSEP), and D-wave monitoring as predictors of postoperative neurological deficits in pediatric patients undergoing resection of intramedullary spinal cord tumors (IMSCTs). Additionally, we aimed to determine whether alerts in the intraoperative neurophysiological monitoring (IONM) influenced the extent of resection (EOR). A retrospective analysis of the pediatric patients who underwent resection of IMSCT between March 2010 and April 2021 with an IONM guidance was performed. IONM alerts were recorded and correlated with patients' clinical status at discharge. Twenty three pediatric patients were included. MEP and SSEP were successfully elicited in all patients, while D-wave monitoring was feasible for 14 of them (60.9%). Significant IONM alerts occurred in 6 individuals (26.1%) with monitorable MEP and SSEP and 2 patients with monitorable D-waves (14.3%). The sensitivity, specificity, positive predictive value, and negative predictive value accounted for 100%, 81.8%, 20%, 100% for MEP, 100%, 92.3%, 50%, 100% for D-wave, and 50%, 81%, 20%, 94.44% for SSEP, respectively. Both MEP (p 0.001) and D-wave monitoring (p 0.001) accurately predicted postoperative motor deficits, while SSEP failed to provide significant accuracy regarding sensory deficits (p = 0.491). Gross-total tumor resection was performed in 29.4% of patients without IONM alerts and 33.3% of patients with IONM alerts, indicating that IONM alerts did not limit the EOR (p = 0.0857). MEP and D-wave monitoring can be perceived as reliable IONM modalities in pediatric IMSCTs surgery. Caution is needed with the implementation of SSEP to guide surgical decisions.

This study aimed to evaluate the predictive value of motor evoked potentials (MEP) in the resection of pediatric intradural extramedullary (IDEM) tumors. Additionally, we aimed to assess the impact of MEP alerts on the extent of tumor resection. Medical records of pediatric patients who underwent resection of IDEM tumors with the assistance of MEP between March 2011 and October 2020 were reviewed. The occurrence of postoperative motor deficits was correlated with intraoperative MEP alerts. Sixteen patients were included. MEP alerts appeared in 2 patients (12.5%), being reflective of new postoperative motor deficits. Among the remaining 14 patients without any intraoperative MEP alerts, no motor decline was found. Accordingly, MEP significantly predicted postoperative motor deficits, reaching sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of 100% (p < 0.001). In the absence of MEP alerts, 11 out of 14 patients (78.6%) underwent GTR, while no patient with intraoperative IONM alerts underwent GTR (p = 0.025). Although MEP alerts limit the extent of tumor resection, the high sensitivity and PPV of MEP underline its importance in avoiding iatrogenic motor deficits. Concurrently, high specificity and NPV ensure safer tumor excision. Therefore, MEP can reliably support surgical decisions in pediatric patients with IDEM tumors.

Our study aimed to evaluate the quality of life of the patients operated due to Chiari malformation type 1 (CM-1) in the Department of Pediatric Neurosurgery, Medical University of Silesia in Katowice.We performed a retrospective analysis of 11 patients diagnosed with CM-1 who were treated in our center in the years 2007 to 2016. There were 6 female and 5 male individuals. Short-term evaluation of the outcome was based on comparison of the presenting symptoms and radiological images before and after the surgical treatment. Long-term follow-up was carried out using survey questionnaires based on the Chicago Chiari Outcome Scale (CCOS) devised originally by Aliaga et al. RESULTS: Patients, based on their CCOS score were divided into three groups marked as "improved," "unchanged," and "worse," depending on a range of CCOS score: 13-16, 9-12, 4-8, respectively. The outcome of patients was as follows: 6 patients (55%) were evaluated as improved, and 5 (45%) as unchanged. No patient was classified as worse after surgery. Significant negative Spearman's correlation was found between the CCOS score and patients' age at the time of surgery (R = - 0.85, p = 0.0009).The decision of whether to operate pediatric patients with CM-1 should be considered very carefully. In our department, the main indication for surgery was the occurrence of clinical symptoms. Our study revealed that in the symptomatic patients, surgery improves their quality of life measured with CCOS.

Purpose To assess the results and tolerance of radiosurgery/hypofractionated stereotactic radiotherapy performed after craniospinal irradiation for recurrent tumor. Methods Fourteen patients aged 3–46 years, diagnosed with medulloblastoma (10), anaplastic ependymoma (3), and primitive neuroectodermal tumor (1). All patients had craniospinal irradiation (CSI) with the total dose of 30.6–36 Gy and boost to 53.9–60 Gy either during primary or during second-line treatment. Twelve patients were irradiated with a single dose of 6–15 Gy (median 14.5 Gy). One received three fractions of 5 Gy and one six fractions of 5 Gy. In statistical analysis, the Kaplan-Meier method and log-rank test were used. The overall survival was calculated from the date of the end of stereotactic radiosurgery to the date of death or last contact. Results Recurrences were diagnosed after the median time of 16 months after the end of primary treatment. Eleven patients died during the follow-up. The follow-up for the 3 patients still alive was 6.7, 40.5, and 41.4 months, respectively. One- and 2-year overall survival (OS) was 70% and 39%. Patients who had ECOG performance status of 0 at the time of diagnosis of the disease trended to have better 2-year OS compared to those evaluated as ECOG 1 (p = 0.057). Treatment results were evaluable in 12 patients. Local control (stabilization or regression of the lesion) was achieved in 9 (75%). Overall disease progression was 67%. No patient developed radiation-induced necrosis. The treatment was well tolerated and no serious adverse effects were observed. Eleven patients were given steroids as a prevention of brain edema and four of them needed continuation of this treatment afterwards. In 7 patients, symptoms of brain edema were observed during the first weeks after reirradiation. Conclusions Stereotactic radiosurgery or hypofractionated stereotactic radiotherapy is an effective treatment method of the local recurrence after CSI and can be performed safely in heavily pre-treated patients.

Subependymal giant-cell astrocytomas (SEGAs) are slow-growing brain tumors that are a hallmark feature seen in 5–10% of patients with Tuberous Sclerosis Complex (TSC). Though histologically benign, they can cause serious neurologic symptoms, leading to death if untreated. SEGAs consistently show biallelic loss of TSC1 or TSC2. Herein, we aimed to define other somatic events beyond TSC1/TSC2 loss and identify potential transcriptional drivers that contribute to SEGA formation. Paired tumor-normal whole-exome sequencing was performed on 21 resected SEGAs from 20 TSC patients. Pathogenic variants in TSC1/TSC2 were identified in 19/21 (90%) SEGAs. Copy neutral loss of heterozygosity (size range: 2.2–46 Mb) was seen in 76% (16/21) of SEGAs (44% chr9q and 56% chr16p). An average of 1.4 other somatic variants (range 0–7) per tumor were identified, unlikely of pathogenic significance. Whole transcriptome RNA-sequencing analyses revealed 190 common differentially expressed genes in SEGA (n = 16, 13 from a prior study) in pairwise comparison to each of: low grade diffuse gliomas (n = 530) and glioblastoma (n = 171) from The Cancer Genome Atlas (TCGA) consortium, ganglioglioma (n = 10), TSC cortical tubers (n = 15), and multiple normal tissues. Among these, homeobox transcription factors (TFs) HMX3, HMX2, VAX1, SIX3; and TFs IRF6 and EOMES were all expressed >12-fold higher in SEGAs (FDR/q-value < 0.05). Immunohistochemistry supported the specificity of IRF6, VAX1, SIX3 for SEGAs in comparison to other tumor entities and normal brain. We conclude that SEGAs have an extremely low somatic mutation rate, suggesting that TSC1/TSC2 loss is sufficient to drive tumor growth. The unique and highly expressed SEGA-specific TFs likely reflect the neuroepithelial cell of origin, and may also contribute to the transcriptional and epigenetic state that enables SEGA growth following two-hit loss of TSC1 or TSC2 and mTORC1 activation.

Most of the cases of obstetric brachial plexus lesions (OBPL) show satisfactory improvement with conservative management, but in about 25% some surgical treatment is indicated. The present paper analyzes the effects of primary reconstructive surgeries in aspect of achieving delineated intraoperatively goals. Children operated before the age of 18 months with follow-up period longer than 1 year were selected. Therapeutic goals established during the operation were identified by analysis of initial clinical status and operative protocols. The elementary movement components in shoulder and elbow joints were classified by assessing range of motion, score in Active Movement Scale and modified British Medical Research Council scale of muscle strength. The effect was considered satisfactory when some antigravity movement was possible, and good when strength exceeded M3 or antigravity movement exceeded half of range of passive movement. In 13 of 19 patients most of established goals were achieved at good level, in 2 at satisfactory level. Remaining 4 patients showed improvement only in some aspects of extremity function. In 2 patients improvement in some movements was accompanied by worsening of other movements. The analysis of results separated into individual components of movements showed that goals were achieved in most of the cases, simultaneously clearly indicating which damaged structures failed to provide satisfactory function despite being addressed intraoperatively. The good results were obtained mainly by regeneration through grafts implanted after resection of neuroma in continuity, which proves that this technique is safe in spite of unavoidable temporary regression of function postoperatively.

BACKGROUND Angiogenesis is the process of new vessel formation originating from the existing vascular network. It plays an important role in the growth and spread of malignancies, including brain tumors. The process of angiogenesis is characterized by increased expression of vascular endothelial growth factor (VEGF) and basic fibroblast growth factor (bFGF), and by the release of their soluble forms into circulation. OBJECTIVES The aim of the study was to evaluate serum levels of VEGF and bFGF in children with malignant and benign brain tumors. MATERIAL AND METHODS The study group (group N) included 106 children diagnosed with brain tumors. The children in group N were classified according to tumor pathology into 3 subgroups: N1 (n = 63): patients with malignant tumors, excluding anaplastic astrocytoma (AA) and glioblastoma multiforme (GBM); N2 (n = 25): patients with benign tumors; and N3 (n = 18): patients with high grade gliomas (AA and GBM). VEGF and bFGF were determined by ELISA in blood samples before the initiation of chemotherapy. VEGF and bFGF levels were compared within the subgroups in relation to tumor grading and the extent of surgery. RESULTS The median VEGF in patients with brain tumors was significantly higher than in the control group. The median levels of VEGF and bFGF in subgroup N1 were significantly higher than in the control group. The differences in VEGF and bFGF concentrations between the subgroups in relation to the extent of tumor resection were not significant. CONCLUSIONS Significantly higher plasma VEGF levels in children with brain neoplasms may reflect enhanced angiogenesis in the tumors.

The glymphatic system creates a network of perivascular channels. It is made of astroglia cells, whose perikaryon extensions strongly express aquaporin-4 water channels (AQP4). The pathways of the glymphatic system ensure the transport of nutrients, including glucose, lipids, amino acids, neurotransmitters, antigens, and immune cells, as well as exchange of information via afferent and efferent immune pathways. Within the glymphatic system, convective exchange of cerebrospinal fluid (CSF) and interstitial fluid (ISF) components takes place, through aquaporin-4 water channels that facilitate fluid exchange. The proper functioning of the glymphatic system allows elimination and reabsorption of solutes, metabolites, pursuit of water and ionic balance, transport of lipid signaling molecules, regulation of intracranial pressure, cerebrospinal fluid pressure, and interstitial fluid pressure. The functions of the glymphatic system are primarily affected by the influence of the sympathetic and parasympathetic innervation, sleep and wakefulness cycle, the aging process, genetic factors, and body posture. Now, the glymphatic system shows weak activity during wakefulness, while its activity increases dramatically during sleep and the state of anesthesia. Changes occurring with age begin a number of factors that impair the function of the glymphatic system pathways. Dysfunction of the glymphatic pathways causes the aggregation of incorrectly formed proteins that underlie the development of neurodegenerative diseases. Harmful protein aggregates cause prolonged inflammation. All pathologies occurring within the central nervous system (CNS), both neurodegenerative diseases and injuries, disrupt the drainage of glymphatic pathways, which are important efflux of interstitial substances and byproducts of CNS metabolism.

Syringomyelia is a disorder characterized by the presence of cavities within the spinal cord, most frequently located in the cervical and upper thoracic regions. The pathogenesis of this disease has not been fully elucidated. We present a case of a boy diagnosed at 2 years of age due to a psychomotor development delay. By physical examination on admission mild dysmorphic facial features, short neck and generalized hypotonia with presented deep tendon reflexes were observed. On the basis of magnetic resonance imaging extensive syringomyelia coexisting with the Chiari I malformation was diagnosed. In the described child posterior fossa decompression was performed with improvement in the form of significant regression of syringomyelic cavities.

The aim of this study was to assess locomotor functions of patients with cerebral palsy and qualified for various treatment procedures on the basis of indicative methods and parameters constituting the Gillette Gait Index. The studied group consisted of 57 healthy children and 60 children with different types CP and different degrees of disability: REH - patients subjected to physiotherapy only, BOT - patients subjected to the injection of botulinum toxin and intensive rehabilitation and RIZ - patients qualified for the surgical procedure of the selective dorsal rhizotomy. Gait investigations were carried out using BTS Smart system and the gait assessment was made on the basis of gait indices methods (GGI, GDI). The statistical analysis demonstrated that the most diversified parameters characterising patients with CP qualified for various treatments are: knee flexion at initial contact, time of peak knee flexion, range of knee flexion, range of pelvic tilt.

Background Epilepsy affects up to 90% of TSC patients and majority of them have seizure at the age of 3–5 months, after a period of latent epileptogenesis, but some develop epilepsy earlier. Aims The aim of this work was to identify incidence, clinical characteristics, and risk factors for neonatal onset of epilepsy in a large cohort of TSC patients. Methods A retrospective review of medical data of 421 TSC patients was performed. Patients who developed epilepsy within first 4 weeks of life were included in the study. Clinical and treatment data, EEG, MRI, and genetic analyses were assessed. Results Epilepsy was present in 366 (86.9%) patients. Twenty-one (5.7%) developed epilepsy as newborns. Mean follow-up was 44.86 (6–170) months. Six patients were seizure free and 15 had drug-resistant seizures at the end of follow-up. Mental retardation was found in 81% of patients. In 11 (52.4%) patients brain MRI revealed large malformations of cerebral cortex, meeting the criteria for focal cortical dysplasia (FCD). FCD was revealed in both TSC1 and TSC2 mutation cases. Other risk factors for neonatal epilepsy included: perinatal complications and congenital SEGAs. Presence of FCD was associated with more severe epilepsy and worse neuropsychological outcome. Epilepsy surgery resulted in improvement in seizure control. Conclusions Neonatal onset of epilepsy in TSC is frequently associated with large malformations of cerebral cortex. Patients with FCD are at high risk of severe drug-resistant epilepsy and poor neuropsychological outcome. Early epilepsy surgery may be beneficial and should be considered in such cases.

Purpose Subependymal giant cell astrocytoma (SEGA) is a brain tumor associated with tuberous sclerosis complex (TSC). It usually grows in a second decade of life, but may develop in the first months of life. The aim of this work was to establish the incidence, clinical features, and outcome of congenital SEGA in TSC patients. Methods Cohort of 452 TSC patients was reviewed to identify cases with growing or hydrocephalus producing SEGAs in the first 3 months of life. Clinical presentation, size of the tumor, growth rate, mutational analysis, treatment applied, and outcome were analyzed. Results Ten (2.2 %) patients presented with SEGA in the first 3 months of life. All of them had documented SEGA growth and all developed hydrocephalus. In eight patients, mutational analysis was done, and in all of them, TSC2 gene mutations were identified. Mean maximum SEGA diameter at baseline was 21.8 mm. Mean SEGA growth rate observed postnatally was 2.78 mm per month and tended to be higher (5.43 mm per month) in patients with TSC2/PKD1 mutation than in other cases. Seven patients underwent SEGA surgery and surgery-related complications were observed in 57.1 % cases. One patient was successfully treated with everolimus as a primary treatment. Conclusions Congenital SEGA develops 2.2 % of TSC patients. Patients with TSC2 mutations, and especially with TSC2/PKD1 mutations, are more prone to develop SEGA earlier in childhood and should be screened for SEGA from birth. In young infants with SEGA, both surgery and mTOR inhibitor should be considered as a treatment option.

BACKGROUND: Subependymal giant cell astrocytoma is a brain tumor associated with tuberous sclerosis complex. There are two treatment options for subependymal giant cell astrocytomas: surgery or mammalian target of rapamycin inhibitor. The analysis of outcome of subependymal giant cell astrocytoma surgery may help characterize the patients who may benefit from pharmacotherapy. METHODS: Sixty-four subependymal giant cell astrocytoma surgeries in 57 tuberous sclerosis complex patients with at least a 12-month follow-up were included in the study. The tumor size, age of the patients, mutation in the TSC1 or TSC2 gene, indication for the surgery, and postsurgical complications were analyzed. RESULTS: The mean age of patients at surgery was 9.7 years. Mean follow-up after surgery was 63.7 months. Thirty-seven (57.8%) tumors were symptomatic and 27 (42.2%) were asymptomatic. Patients with TSC2 mutations developed subependymal giant cell astrocytoma at a significantly younger age than individuals with TSC1 mutations. Four patients (6.2% of all surgeries) died after surgery. Surgeryrelated complications were reported in 0%, 46%, 83%, 81%, and 67% of patients with tumors 4 cm, and bilateral subependymal giant cell astrocytomas, respectively, and were most common in children younger than 3 years of age. The most common complications included hemiparesis, hydrocephalus, hematoma, and cognitive decline. CONCLUSIONS: Our study indicates that subependymal giant cell astrocytoma surgery is associated with significant risk in individuals with bilateral subependymal giant cell astrocytomas, tumors bigger than 2 cm, and in children younger than 3 years of age. Therefore, tuberous sclerosis complex patients should be thoroughly screened for subependymal giant cell astrocytoma growth, and early treatment should be considered in selected patients.

A three-dimensional analysis of movement is more and more often applied to assess locomotive functions of patients with cerebral palsy (CP). For the past few years there has been a growing interest in gait index methods which enable the evaluation of the patient’s gait with the use of a single numerical value. This research aimed at the assessment of the gait of patients with CP at different stages of treatment on the basis of gait indices Gillette Gait Index (defined by Shutte) and Gait Deviation Index (definied by Schwartz and Rozumalski) as well as finding dependencies between the determined indices values. The studied group consisted of 56 healthy participants and 16 patients with cerebral palsy treated using botulinum toxin. On the grounds of the determined indexes, the improvement of gait was observed in the case of 75 % of patients with CP. Statistically significant differences were found between GGI and GDI values obtained in the initial investigation and after 6 months following the administration of botulinum (PRE and POST). There was a strong linear dependence observed between the GDI and GGI* (\(GGI^*=\ln (\sqrt{GGI})\)) values. No significant dependence was observed between the percentage indices of improvement determined on the basis of the GGI and GDI results obtained (in the PRE and POST examination).

Subependymal giant cell astrocytoma (SEGA) is a benign brain tumor associated with tuberous sclerosis complex (TSC). Since there were some discrepancies in SEGA classification, in 2012, a consensus statement defined SEGA as a lesion at the caudothalamic groove with either a size of more than 1cm in any direction or a subependymal lesion at any location that has shown serial growth on consecutive imaging regardless of size. This pointed that the documented tumor growing is an important diagnostic feature. Currently, there are 2 therapeutic options: surgical and medical with mammalian target of rapamycin (mTOR) inhibitors. Neurosurgery should consider a localization and size of the tumor, presence of hydrocephalus and surgeon's experience. Patients who are not qualified for surgery and require therapeutic intervention are subjected to mTOR inhibitors therapy. Everolimus, one of the mTOR inhibitors, has been recently approved in the US and Europe for treatment of patients with TSC and SEGA. Treatment with everolimus results in a rapid initial reduction in tumor volume, followed by a phase of slower reduction or stabilization of residual mass. mTOR inhibitor dose de-escalation strategy seems to be also logical in long-term SEGA treatment to reduce the risk of adverse effects while maintaining the therapeutic effect. However, duration of the treatment and the efficacy of dose reduction are still questionable. Thus, this review covers the various approaches that are currently being made toward improving the outcome of management of SEGA among patients with TSC.

Medulloblastoma (MB) is one of the most frequent and sensitive to radiation aggressive brain tumor in children. Abnormalities of the thyroid function are common complications of head and neck irradiation for childhood cancer. The aim of this study was to assess thyroid function in children treated for medulloblastoma according to the treatment protocol phase. Twenty-three children with MB were enrolled to this study. All patients underwent chemotherapy and radiotherapy to the whole craniospinal axis and boost with the conformal therapy restricted to the tumor bed to a total dose of 54 Gy. Thyroid function was evaluated based on thyroid-stimulating hormone (TSH), free thyroxine (fT4) levels controlled before MB treatment, directly after irradiation and at the end of the treatment protocol. Ultrasonography has been used to detect parenchymal abnormalities. All patients presented normal thyroid hormone range before chemotherapy. Hypothyroidism was found in 12 patients in the course of treatment, in 2 patients hormone deficits diagnosed directly after irradiation, in 10 patients such condition was observed at the end of the whole therapy. All of these patients needed thyroid hormone substitution. None of them presented clinical symptoms of hypothyroidism. Ultrasound-detected abnormalities have been found in 20 patients. It is crucial to monitor the functions of the thyroid gland in children treated for medulloblastoma because of the high risk of hypothyroidism resulting from the treatment. The change in the echogenicity of the thyroid gland may be an early marker for a dysfunction of this organ in children treated for medulloblastoma.

The aim of our study was to investigate the correlation of the clinical characteristic of pineal parenchymal tumors in children and adolescent with histopathological diagnosis and patient survival. Records of 27 patients with histologically diagnosed pineocytomas (n = 16) and pineoblastoma (n = 11) consecutively treated between 1991 and 2001 were reviewed retrospectively to identify factors predictive of aggressiveness. Among analyzed epidemiological, clinical, and radiological factors, we found that independent prognostic indicator in patients with childhood pineal parenchymal tumor was the extent of surgical resection.

OBJECTIVE. Hydrocephalus is a serious complication of intraventricular hemorrhage in preterm infants, with adverse consequences from permanent ventriculoperitoneal shunt dependence. The development of hydrocephalus takes several weeks, but no clinical intervention has been shown to reduce shunt surgery in such infants. The aim of this study was to test a new treatment intended to prevent hydrocephalus and shunt dependence after intraventricular hemorrhage. METHODS. We randomly assigned 70 preterm infants who had gestational ages of 24 to 34 weeks and were progressively enlarging their cerebral ventricles after intraventricular hemorrhage to either (1) drainage, irrigation, and fibrinolytic therapy to wash out blood and cytokines or (2) tapping of cerebrospinal fluid by reservoir as required to control excessive expansion and signs of pressure (standard treatment). We evaluated outcomes at 6 months of age or hospital discharge (if later). RESULTS. Of 34 infants who were assigned to drainage, irrigation, and fibrinolytic therapy, 2 died and 13 underwent shunt surgery (dead or shunt: 44%). Of 36 infants who were assigned to standard therapy, 5 died and 14 underwent shunt surgery (dead or shunt: 50%). This difference was not significant. Twelve (35%) of 34 infants who received drainage, irrigation, and fibrinolytic therapy had secondary intraventricular hemorrhage compared with 3 (8%) of 36 in the standard group. Secondary intraventricular hemorrhage was associated with an increased risk for subsequent shunt surgery and more blood transfusions. CONCLUSIONS. Despite its logical basis and encouraging pilot data, drainage, irrigation, and fibrinolytic therapy did not reduce shunt surgery or death when tested in a multicenter, randomized trial. Secondary intraventricular hemorrhage is a major factor that counteracts any possible therapeutic effect from washing out old blood.

The aim of the study was evaluation of surgical treatment of epilepsy measured by changes in quality of life (QOL) and in seizure frequency and severity. Examined group consists of 24 boys and 9 girls. We performed corpus callosotomy, lesionectomy, vagal nerve stimulation, temporal lobectomy and multiple subpial transections. Age at surgery ranged from 5 months to 19 years, with mean follow-up of 11.9 months. QOL was evaluated on the basis of the questionnaire created by us, in which parents were asked to assess the following variables before and after the surgical procedure: communication, socialization, daily living skills, movement abilities and behavioural problems. The seizure frequency was assessed with the Engel’s scale, the modified Engel’s scale and the Seizure Scoring System. Clinical state of all the patients was evaluated as well. There were no patients with stable and worsening QOL status. In the whole group treated with callosotomy, the considerable improvement in QOL concerned 36.4% of cases. In more than 95% of cases, the reduction in seizures frequency is greater than 75%. In more than 43% of patients, there are no seizures after surgery. Surgical treatment of intractable epilepsy is an effective method in terms of both seizure control and QOL improvement. Our results indicate the improvement in QOL of all operated patients. The improvement in QOL was accompanied by decrease in frequency and ‘positive’ changes in morphology of seizures. Improvement in QOL, as equivalent to seizure reduction rate, may influence further differentiation of qualification methods and surgical procedures of epilepsy.

Little is known about the incidence and symptomatology of pineal cysts in children. Until now, the proper management of this group of patients has not been established.The purpose of this study was to evaluate the epidemiological and clinical features of pineal cysts in children and adolescents and to try to find guidelines for their management.We analyzed 24 patients (17 girls, mean age 9, and 7 boys, mean age 14) with pineal cysts found as the only pathology on MRI. Six patients were treated surgically (excision of the cysts via a supracerebellar-infratentorial approach) because of the progression of neurological symptoms or the enlargement of the cyst at follow-up. In this group of patients, no surgery-related complications were noted, nor was residual cyst observed on postoperative MRI. In 4 cases, histological examination revealed simple cysts, but in 2 cases pineocytomas were diagnosed. Preoperative symptoms disappeared except light headache in 2 cases and in 1 case no improvement was obtained. The remaining 18 patients had a mean follow-up of 38 months (range 24-60 months). None of the cysts diminished or collapsed. We also measured the circadian pattern of melatonin secretion as well as beta-HCG and AFP levels in serum before surgery. We found very high night levels of melatonin in both of the patients with pineocytomas, while the patients with pineal cysts showed normal or depressed melatonin secretion profile.We concluded that though most pineal cysts were clinically benign they should be followed up for many years. If the cyst grows larger in follow-up MRI study and neurological symptoms are progressive, surgical treatment should be performed. In the authors' opinion, one of the markers discriminating benign and neoplastic lesions may be melatonin.

Introduction. Head injury is an important factor in children's morbidity and mortality. Arterial vasospasm and probably resulting from this, delayed ischemic deficit are important sequels of head trauma with detrimental effects on outcome. These problems have already been well studied in adults, but not in children. The noninvasiveness and ease in use of transcranial Doppler ultrasound technique (TCD) make it an ideal tool for the assessment of changes in cerebral circulation not only for the purposes of diagnosis but also for follow-up. Patients and methods. The authors review the present literature and analyze the usefulness of TCD as used in a group of 27 head-injured children aged 3–16 years. GCS/CCS score, CT pictures and neurological status were estimated. TCD examination was performed on the 2nd day after injury and each of the following 5 days or until normalization of flow velocities. Blood flow velocity was measured in the middle cerebral artery, the anterior cerebral artery and the extracranial portion of the internal carotid artery. The pulsatility index was also read. Results. A significant correlation was found between changes in blood flow parameters and neurological status. High blood flow velocities seemed to be caused by hyperemia rather than by vasospasm. Conclusion. The results confirm that TCD is a useful method in the management of children after head injury.

To evaluate auxology and metabolic disturbances in children with craniopharyngioma, and to present observational results of treatment of metabolic sequels with metformin and micronized fenofibrate.The studied group comprised 22 children [median age at diagnosis 10.5 (0.17–16.75) years; median follow-up 5.1 years]. Assessment included height standard deviations (SDS), body mass index (BMI) SDS, concentrations of lipids, glucose and insulin (fasting or oral glucose tolerance test) and homeostatic model assessment of insulin resistance (HOMA-IR) index. Ten adolescents with hyperinsulinemia and dyslipidemia received therapy with metformin (500–1500 mg/daily) and micronized fenofibrate (160 mg/daily).At diagnosis, median hSDS was –1.66 (range: –4.08; +0.1). Nine (40.9%) children were growth hormone-treated. There was gradual increase of BMI SDS, 18 (81.8%) patients being overweight at the final assessment. Dyslipidaemia was found in 19 patients (86.4%), hyperinsulinaemia in 11 patients (50%) and elevated HOMA-IR in 15 patients (68.2%). Decrease of triglycerides [median 263.5 (171–362) mg/dL vs. 154 (102–183) mg/dL] and HOMA-IR [8.64 (5.08–12.65) vs. 4.68 (0.7–7.9)] was significant in the group treated with metformin and fenofibrate for 6 months.Significant auxologic changes and metabolic abnormalities were found in children treated for craniopharyngioma. The use of metformin and fenofibrate seemed to attenuate these disturbances in a short-term observation.

Objects: The aim of this work was to ascertain any clinical and anatomical factors allowing differentiation between aneurysms of childhood and those occurring in adults by comparing both groups. Methods: Results obtained in a total of 17 children and adolescents aged up to 18 who had been operated on for cerebral aneurysm in our department from 1989 to 1997 (3% of all patients treated for subarachnoid haemorrhage resulting from ruptured cerebral aneurysm in this period) were compared with those in the adult group operated on in our department. In contrast to the situation in adults, there was a male predominance in our population. In children we found only 1 case of middle cerebral aneurysm and 1 case of multiple aneurysms. We also found a high rate of rebleeding in the paediatric group. Conclusions: We suggest that the very good outcome (100% very good results in patients operated on early) obtained and the high risk of rebleeding in children with cerebral aneurysm allow the recommendation of early surgery in children with ruptured cerebral aneurysms.

There are many controversies concerning the management of children after mild head injury. Most of these patients achieve a full recovery without medical or surgical intervention. A small percentage of them deteriorate owing to intracranial complications. The goal of this study was to identify significant factors that might allow the identification of patients at risk of subsequent deterioration. Its secondary goal was to establish a clinical protocol for the management of mild head injuries in children. We retrospectively reviewed the records of 166 children and adolescents with head trauma who had Glasgow Coma Scale (GCS) or Children Coma Scale (CCS) scores of 13-15 at the time of admission. The patients were divided into five age categories: babies younger than 1 year, children 1-3, 4-6, and 7-14 years old, and adolescents 15-17 years of age. The largest age group consisted of children 7-14 years old (83 cases). There was a male predominance (2:1). The main causes of injury were traffic accidents (55 cases) and falls (53 patients). Neurosurgical procedures were required in 93 of the 166 patients (56%). The most common intracranial lesion was subdural and epidural hematoma (60 cases). In 26 children (15.6%) diffuse brain swelling was the only lesion. A skull fracture was found in 103 cases and was accompanied by epidural hematoma (HED) in 19 cases (18%) and by subdural hematoma (HSD) in 12 cases (12%). However, the 63 children without a fracture also included 18 (29%) who had HSD and 11 (17%) who had HED. In our population 165 (99%) of the patients obtained a very good or good result. None was left severely disabled or in a vegetative state. One patient with GCS 13 died of an infection. We concluded that skull X-ray examination is not sufficient to rule out intracranial hematoma. We recommend CT scanning and admission to hospital for 24-h observation for all children with minor head injury, because of the risk of delayed hematoma.

Background: Papillary pineocytoma is an extremely rare tumor usually with a poor outcome. Case report: We report a case of a 10-year-old-girl with pineal gland tumor and obstructuve hydrocephalus diangnosed using MRI. The child was successful treated by insertion of a ventriculoperitoneal shunt and consecutive tumor resection by supracerebellar-infratentorial approach. Histopathological examination showed a papillary structure of the pineocytoma. As such, tumors are considered to be aggressive the child was subjected to radio- and chemotherapy. Conclusion: At six year follow-up after surgery, the patient is symptom-free and the MRI shows no tumor recurrence.

The Bcl family contains both pro and antiapoptotic proteins participating in the regulation of neuronal cell death in several pathological conditions. However, very little is known about physiological profiles of Bcl-2/Bax expression in normal brain. In this study, we examined expression profile of Bcl-2 and Bax proteins in normal pineal gland in children. The material for analysis was obtained by biopsy of pineal parenchyma during surgery of pineal cysts. All specimens were labeled immunohistochemically and analyzed by means of confocal laser scanning microscope. We found only few Bcl-2 expressing (0.7%) and no Bax-immunopositive (0.0%) pinealocytes. Bcl-2-positive cells were mature neurons, neither young ones nor glia.

We report the case of an aneurysmal bone cyst of the left orbital roof in a 12-year-old boy who presented proptosis of the left eye and painless swelling of the left orbital rim. A 3-cm-large tumor developed in less than 3 months, with first visible signs about 2 months after a minor head injury. Radiologically, the lesion was osteolytic and multicystic. The cyst, filled with hematic fluid, was surgically removed via left frontal craniotomy and a simple curettage with high-speed bur. The patient recovered well and has been in good health throughout 14 months of follow-up.

Introduction. Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder. It is characterized by severe growth failure, premature aging, and very early atherosclerosis with coronary artery disease and cerebrovascular disease. Case report. A 10-year-old boy with HGPS was admitted to our department because of progressive deterioration after a mild head injury. The CT scans revealed epidural hematoma in posterior fossa and another one in the temporal region on the left side. On admission the child was given an estimated score of 10 on the GCS. Neurological examination revealed right hemiparesis. The boy was operated on, and both hematomas were evacuated. In a few days the neurological symptoms disappeared, and he was discharged from the hospital with only residual, minimal right hemiparesis. Conclusion. Intracranial pathology was certainly caused by the head trauma, but was more severe than would have been expected had the trauma been the sole cause. We suggest that progressive atherosclerosis of intracranial vessels was responsible for formation of the hematomas.