Cerebellar Hemisphere Research Articles

MDB-91. MEDULLOBLASTOMA – MOLECULAR CHARACTERISTICS AND RADIOLOGICAL ASPECTS OF A BRAZILIAN COHORT FROM A SINGLE CENTER

Abstract BACKGROUND Four molecular subgroups of medulloblastoma are distinguished by their genomic, epidemiological, and prognostic characteristics: Wingless (WNT), Sonic hedgehog (SHH), Group 3 and Group 4. Genotypic classification permits individualized therapeutic planning based on risk stratification, thereby improving patient outcome. This study aims to characterize the epidemiological and molecular data of a cohort treated at a single Brazilian center, as well as to correlate the heterogeneous aspects of magnetic resonance imaging (MRI) with the molecular characteristics of this tumor. METHODS The study analyzed 47 medulloblastoma cases, treated at the children’s oncology reference institution of a middle-income country between 2011 and 2021. The medical records, radiological findings and the histological and molecular classification are reviewed. The images were evaluated by an experienced neuroradiologist, blinded to clinical and molecular information. RESULTS Thirty-two out 47 patients met the eligibility criteria and were analyzed. The frequency of molecular groups found was 6.25% Non-SHH/ Non-WNT, 12.50% WNT, 34.38% SHH, 3% Group 3 and 44 % Group 4. The analysis revealed tumor location, presence of hemorrhage/calcification, limits and enhancement patterns are significant for molecular group prediction. SHH shows a significant prevalence in the cerebellar hemisphere, lower presence of hemorrhage/calcification and an ill-defined tumor margins when compared with other subgroups. Group 4 showed significantly less enhancement. CONCLUSIONS In accordance with the frequency observed in studies on childhood medulloblastoma, our series found a significant prevalence of Group 4 and a lack of representativeness of Group 3. Despite the limitations, it was possible to identify radiological tumor characteristics that may predict the molecular subgroup and contribute to a more effective therapeutic approach, thereby reducing the incidence of post-surgical complications.

DIPG-25. RELATIONSHIP BETWEEN MOLECULAR CLASSIFICATION, ORIGIN AND PROGNOSIS IN DIFFUSE MALIGNANT GLIOMA IN CHILDREN

Abstract INTRODUCTION Diffuse malignant gliomas that occurs in childhood is recognized as a biologically different disease from that in adults. Furthermore, with the recent development of molecular diagnostics, diffuse midline glioma (DMG), which occurs mainly in the thalamus and brainstem, frequently occurs in childhood and have poor prognosis. We report the relationship between imaging findings, origin, and prognosis of diffuse malignant glioma in children or young adult based on our case series. PATIENTS AND METHODS 43 cases of malignant glioma that occurred from childhood to young adult (below 30 years old) and were treated at our hospital since 2004 were registered in the analysis. Of the 42 cases, 24 cases were in brain stem, 11 cases in cerebral hemisphere, 6 cases in thalamus, and 1 case in cerebellar hemisphere. Histological diagnosis was possible in 31 cases, but without histological verification in 11 brain stem lesions. Histological diagnosis included 13 high-grade glioma (GBM, including NOS and G34R mutations), 11 DMG, and 7 anaplastic astrocytoma. RESULTS Of 13 cases of hemispheric high-grade gliomas, 2 cases had long-term survival (both cases received WT1 peptide vaccination), and 1 case survived for more than 5 years (total resection, MGMT methylation). Among the DMGs, 7 cases were found in brain stem (5 pons, 2 pontomedullary junction, 1 cerebellar peduncle, and 1 midbrain), 3 cases in the thalamus. Two cases of onset at the pontomedullary junction were found incidentally, and the symptoms gradually increased during follow-up, and multidisciplinary treatment was performed. Bilateral thalamus DMG with HIST1H3B mutation showed slowly growing and invasion. SUMMARY There were cases of pediatric hemisphere glioblastoma with long-term survival. In addition, the origin and imaging findings of DMG were various, and tumors that originate at the pontomedullary junction may be relatively favorable.

NFS-01. EXTREMELY RARE CASE OF CHILDREN WITH NIJMEGEN BREAKAGE SYNDROME AND MEDULLOBLASTOMA – A THERAPEUTIC CHALLENGE

Abstract BACKGROUND Nijmegen Breakage Syndrome (NBS) is an autosomal recessive inherited disorder characterized by DNA repair abnormalities. It manifests with heightened sensitivity to radiotherapy (RT) and predisposes individuals to neoplastic diseases. Antineoplastic treatment in NBS patients is particularly challenging due to concurrent immune disorders, intense toxicities, and contraindications for RT. Hematologic disorders, especially lymphomas, are among the most prevalent malignancies in NBS patients. Solid tumors in NBS are extremely rare, with only two pediatric cases documented in the literature, both succumbing due to severe complications of treatment. METHODS A review and analysis of the medical documentation of a child with NBS and MB treated at the Department of Pediatrics, Hematology, and Oncology, Gdansk, Poland, were conducted. RESULTS A genetically confirmed NBS girl displaying typical phenotypic features presents symptoms at the age of 2 years, such as headaches, reluctance to walk, and drowsiness. Imaging confirmed a tumor in the left cerebellar hemisphere, measuring 40x33x30mm, displaying radiological features consistent with Medulloblastoma (MB). The patient underwent gross total resection of the tumor. The pathology revealed a desmoplastic type of MB with SHH activation, TP53 wild type, and ongoing molecular analysis. Postoperative imaging confirmed clinical remission, and cerebrospinal fluid examination was negative. Considering the substantial toxicities of chemotherapy in NBS patients and the contraindications for RT, the patient received chemotherapy with reduced cytostatic doses. Treatment was complicated by profound and prolonged myelosuppression and infections. Currently, after completing six cycles of chemotherapy, the patient is still in remission. To maintain remission and address NBS, the patient will receive allogeneic bone marrow transplantation from a 9/10 HLA-matched unrelated donor. CONCLUSIONS Managing patients with NBS, complicated by neoplastic diseases, is exceptionally demanding and necessitates an individualized multidisciplinary approach. Modern diagnostic and therapeutic methods enhance the prospects of reducing the toxicity of oncologic treatment, improving quality of life, and extending overall survival.

Idiopathic hypertrophic pachymeningitis: Features of 9 patients and a literature review

Introduction: Idiopathic hypertrophic pachymeningitis (IHP) is a rare disorder presenting with headache, cranial and spinal neuropathy. This study is to explore the clinical, laboratory and imaging changes; treatment; and clinical outcomes of idiopathic hypertrophic pachymeningitis (IHP). Methods: This was a retrospective evaluation of 9 patients (5 men and 4 women; mean age: 53.6 years), their clinical features, laboratory tests, cerebral spinal fluid (CSF) analysis, MRI results, pathological features, treatment and clinical outcomes from a tertiary centre in Qingdao, North East China. The serum IgG4 was negative for all the cases. Results: Headache was the most common symptom (7/9), followed by oculomotor, trigeminal, abducens and facial nerve neuropathies, and limb numbness in one case. Two cases showed increased ESR and CRP, and four were positive for ANA or anti-SSA antibodies. On CSF analysis, 2/7 had increased pressure, and 4/7 showed lymphocytosis and high protein levels. MRI revealed a thickening and enhancement of the dura, mainly involving bilateral tentorium (85%), falx cerebri (57%), and cerebellar hemisphere (57%). The tissue biopsy of dura mater in three cases showed thickened collagen fibers, lymphocytosis and focal necrosis, with similar but not identical features to IgG4-related sclerosing disease. Most patients were treated with corticosteroids, and 79% showed improvement. The abnormal thickness and enhancement of the dura mater disappeared in one case. Conclusion: Gadolinium-enhanced MRI serves as the key preliminary investigation for the diagnosis and evaluation of the clinical course for IHP. Majority of patients have good respond to steroid.

Anomalies of Midbrain/Hindbrain Development and Related Disabilities: Pontocerebellar Hypoplasia, Congenital Disorders of Glycosylation, and Cerebellar Hemisphere Hypoplasia

AbstractRecent progress in developmental biology, molecular genetics, and neuroimaging has enabled a more profound comprehension of developmental disorders affecting the embryonic midbrain and hindbrain, which manifest clinically. The purpose of this review is to describe anomalies of the midbrain/hindbrain such as pontocerebellar hypoplasia (PCH), congenital disorders of glycosylation (CDG), cerebellar hemisphere hypoplasia. PCH is a group of disorders that is both clinically and genetically diverse. These disorders are identified by the hypoplasia and degeneration of the cerebellum and ventral pons. A total of 18 distinct clinical subtypes of PCH, each linked to pathogenic variants in 19 different genes, have been documented, like mutations in TSEN54 (coding a subunit of tRNA splicing endonucleases complex) and TBC1D23 which display moderate-to-severe intellectual disability (ID) and microcephaly. CDG represent a set of inherited conditions marked by impaired glycosylation of proteins and lipids. The most prevalent subtype among CDG is PMM2-CDG, inherited in a recessive manner, causing reduced activity of phosphomannomutase. Its phenotype varies from mild to severe, involving the central nervous system and affecting many other organs as well. Patients who are severely affected also exhibit visceral symptoms alongside severe ID and other neurological manifestations. Cerebellar hypoplasia (CH) is characterized by a cerebellum of diminished volume while maintaining its shape. CH exhibits a diverse range of neuroradiologic features, etiologies, clinical characteristics, and neurodevelopmental involvement. Cerebello–oculo–facio–genital syndrome is linked to a recessive MAB21L1 mutation. Jubert's syndrome, associated with a rare autosomal recessive mutation, is identified on magnetic resonance imaging by cerebellar worm hypoplasia and midbrain malformations. The rhombencephalosynapsis, characterized by vermian agenesis or hypogenesis with the fusion of the cerebellar hemispheres, emerges during embryogenesis. It can manifest alone or in conjunction with other and/or extracerebral abnormalities.

Individual cerebellar metabolic connectome in patients with MTLE and NTLE associated with surgical prognosis.

This study aimed to comprehensively explore the different metabolic connectivity topological changes in MTLE and NTLE, as well as their association with surgical outcomes. This study enrolled a cohort of patients with intractable MTLE and NTLE. Each individual's metabolic connectome, as determined by Kullback-Leibler divergence similarity estimation for the [18F]FDG PET image, was employed to conduct a comprehensive analysis of the cerebral metabolic network. Alterations in network connectivity were assessed by extracting and evaluating the strength of edge and weighted connectivity. By utilizing these two connectivity strength metrics with the cerebellum, we explored the network properties of connectivity and its association with prognosis in surgical patients. Both MTLE and NTLE patients exhibited substantial alterations in the connectivity of the metabolic network at the edge and nodal levels (p < 0.01, FDR corrected). The key disparity between MTLE and NTLE was observed in the cerebellum. In MTLE, there was a predominance of increased connectivity strength in the cerebellum. Whereas, a decrease in cerebellar connectivity was identified in NTLE. It was found that in MTLE, higher edge connectivity and weighted connectivity strength in the contralateral cerebellar hemisphere correlated with improved surgical outcomes. Conversely, in NTLE, a higher edge metabolic connectivity strength in the ipsilateral cerebellar hemisphere suggested a worse surgical prognosis. The cerebellum exhibits distinct topological characteristics in the metabolic networks between MTLE and NTLE. The hyper- or hypo-metabolic connectivity in the cerebellum may be a prognostic biomarker of surgical prognosis, which might aid in therapeutic decision-making for TLE individuals.

Localized anaplastic lymphoma kinase-positive histiocytosis in a cerebellar hemisphere with long-term treatment: illustrative case.

Anaplastic lymphoma kinase (ALK)-positive histiocytosis (ALK-H) is an emerging entity in the category of histiocytic neoplasms that was first reported as a multisystemic disease in three infants in 2008. The clinicopathological spectrum of ALK-H has been expanded to include localized disorders in specific organs, but the features of this subtype are not well known. The authors report a case of ALK-H localized in the central nervous system that was difficult to treat and review the relevant literature. The authors reviewed archival histiocytic tumors at their institute and found a pediatric case of ALK-H localized in a cerebellar hemisphere that had previously been reported as histiocytic sarcoma. Chemotherapy (approximately 1 year), additional surgery, and conventional chemotherapy (approximately 2.5 years) led to clinical remission, and maintenance chemotherapy was continued (approximately 1.5 years). Three years after completing treatment, a high-grade glioma was found in a cerebral hemisphere, and the patient died of the glioma 2 years later. Although the prognosis of ALK-H is generally good according to prior cases, the authors' case required long-term conventional chemotherapy, suggesting the tumor displayed aggressive characteristics. Early administration of ALK inhibitors may be necessary.

Neuroglobin overexpression in cerebellar neurons of Harlequin mice improves mitochondrial homeostasis and reduces ataxic behavior

Neuroglobin, a member of the globin superfamily, is abundant in the brain, retina and cerebellum of mammals and localizes to mitochondria. The protein exhibits neuroprotective capacities by participating to electron transfer, oxygen supply and protecting against oxidative stress. Our objective is to determine whether Neuroglobin overexpression can be used to treat neurological disorders. We chose Harlequin mice, which harbor a retroviral insertion in the first intron of the Apoptosis Inducing Factor gene resulting in the depletion of the corresponding protein essential for mitochondrial biogenesis. Consequently, Harlequin mice display degeneration of the cerebellum and suffer from progressive blindness and ataxia. Cerebellar ataxia begins in Harlequin mice at the age of four months and is characterized by neuronal cell disappearance, bioenergetics failure, motor and cognitive impairments which aggravated with aging. Mice aged two months received Adeno-Associated Viral vectors harboring the coding sequence of Neuroglobin or Apoptosis-inducing factor in both cerebellar hemispheres. Six months later, Harlequin mice exhibited substantial improvements in motor and cognitive skills; probably linked to the preservation of respiratory chain function, Purkinje cell numbers and connectivity. Thus, without sharing functional properties with Apoptosis-inducing factor, neuroglobin was efficient to reduce ataxia in Harlequin mice.

P.037 Refractory status dystonicus and hypotension after cardiac arrest in a child with AADC deficiency post gene therapy: a case report

Background: Aromatic l-amino acid decarboxylase (AADC) deficiency is a metabolic disorder that causes deficient serotonin, dopamine, and catecholamine synthesis. How children respond to neurological insult post intracranial gene therapy remains underreported. We present a 10 year old girl with profound neurological injury after a brief in-hospital cardiac arrest, secondary to viral infection-induced respiratory failure, 4 years after gene therapy. Methods: Patient’s chart review included brain imaging, clinical notes, laboratory results, and treatment. Results: MRI showed symmetric abnormalities in the basal ganglia, thalami, cortex, and cerebellar hemispheres. CSF analysis showed homovanillic acid 27 nmol/L (reference range 167-563) and 5-hydroxyindoleacetic acid 7 nmol/L (reference range 67-189). She developed generalized dystonia and oculogyric crises which were not seen since before gene therapy. There was poor catecholamine production causing refractory hypotension. She required a one-month stay in ICU for hypotension and status dystonicus. Dystonia was controlled with high doses of 6 agents. Conclusions: We describe a patient with AADC deficiency post gene therapy who experienced disproportionately severe neurological injury and decreased AADC activity after hypoxic neurological insult. There may be unique considerations of dopaminergic neuron integrity, AADC gene promoter sensitivity, and cerebrovascular autoregulation in children with AADC deficiency post gene therapy.

Neuroradiological findings in GAA-FGF14 ataxia (SCA27B): more than cerebellar atrophy.

GAA-FGF14 ataxia (SCA27B) is a recently reported late-onset ataxia caused by a GAA repeat expansion in intron 1 of the FGF14 gene. Initial studies revealed cerebellar atrophy in 74-97% of patients. A more detailed brain imaging characterization of GAA-FGF14 ataxia is now needed to provide supportive diagnostic features and earlier disease recognition. We performed a retrospective review of the brain MRIs of 35 patients (median age at MRI 63 years; range 28-88 years) from Quebec (n=27), Nancy (n=3), Perth (n=3) and Bengaluru (n=2) to assess the presence of atrophy in vermis, cerebellar hemispheres, brainstem, cerebral hemispheres, and corpus callosum, as well as white matter involvement. Following the identification of the superior cerebellar peduncles (SCPs) involvement, we verified its presence in 54 GAA-FGF14 ataxia patients from four independent cohorts (Tübingen n=29; Donostia n=12; Innsbruck n=7; Cantabria n=6). To assess lobular atrophy, we performed quantitative cerebellar segmentation in 5 affected subjects with available 3D T1-weighted images and matched controls. Cerebellar atrophy was documented in 33 subjects (94.3%). We observed SCP involvement in 22 subjects (62.8%) and confirmed this finding in 30/54 (55.6%) subjects from the validation cohorts. Cerebellar segmentation showed reduced mean volumes of lobules X and IV in the 5 affected individuals. Cerebellar atrophy is a key feature of GAA-FGF14 ataxia. The frequent SCP involvement observed in different cohorts may facilitate the diagnosis. The predominant involvement of lobule X correlates with the frequently observed downbeat nystagmus.

Cerebellar Heterogeneity and Selective vulnerability in Spinocerebellar Ataxia Type 1 (SCA1)

Heterogeneity is one of the key features of the healthy brain and selective vulnerability characterizes many, if not all, neurodegenerative diseases. While cerebellum contains majority of brain cells, neither its heterogeneity nor selective vulnerability in disease are well understood. Here we describe molecular, cellular and functional heterogeneity in the context of healthy cerebellum as well as in cerebellar disease Spinocerebellar Ataxia Type 1 (SCA1). We first compared disease pathology in cerebellar vermis and hemispheres across anterior to posterior axis in a knock-in SCA1 mouse model. Using immunohistochemistry, we demonstrated earlier and more severe pathology of PCs and glia in the posterior cerebellar vermis of SCA1 mice. We also demonstrate heterogeneity of Bergmann glia in the unaffected, wild-type mice. Then, using RNA sequencing, we found both shared, as well as, posterior cerebellum-specific molecular mechanisms of pathogenesis that include exacerbated gene dysregulation, increased number of altered signaling pathways, and decreased pathway activity scores in the posterior cerebellum of SCA1 mice. We demonstrated unexpectedly large differences in the gene expression between posterior and anterior cerebellar vermis of wild-type mice, indicative of robust intraregional heterogeneity of gene expression in the healthy cerebellum. Additionally, we found that SCA1 disease profoundly reduces intracerebellar heterogeneity of gene expression. Further, using fiber photometry, we found that population level PC calcium activity was altered in the posterior lobules in SCA1 mice during walking. We also identified regional differences in the population level activity of Purkinje cells (PCs) in unrestrained wild-type mice that were diminished in SCA1 mice.

Primary Intracranial Leiomyosarcoma- Report of a Rare Case with Literature Review

A 29 years old man presented with a H/O headache and vomiting for 4 months, blurring of vision and gait ataxia for 2 months. A contrast MRI of brain indicated the lesion arose from the dura over left cerebellar hemisphere. A posterior fossa craniotomy was performed with a provisional diagnosis of meningioma. Histopathology and immunohistochemistry revealed Leiomyosarcoma. Further evaluation including Contrast CT and PET scan failed to identify any primary site. Primary intracranial leiomyosarcoma is very rare and only few cases were previously reported. The prognosis for primary intracranial leiomyosarcoma is poor with the longest reported survival being 32 months. Bang. J Neurosurgery 2023; 13(1): 48-50

Prognosis of recovery and death within 1–6 months of spontaneous cerebellar hemorrhage undergoing suboccipital craniotomy

BackgroundSuboccipital craniotomy is a considerable surgical approach for large spontaneous cerebellar hemorrhage, but its prognostic has not been comprehensively addressed. This study aims to report the surgical outcomes and factors related to the prognosis of recovery and death within 1–6 months of patients with spontaneous cerebellar hemorrhage. MethodsWe retrospectively studied 37 patients who underwent craniotomy due to spontaneous cerebellar hemorrhage from January 2019 to April 2022. ResultsThe disease occurs at a mean age of 62.86 years old, with a male/female ratio of 4.26/1. Hemorrhage is mainly in the cerebellar hemisphere. Hospital stays averaged 13.32 days, with significant reductions in hematoma diameter and volume after surgery. The hospital mortality rate was 5.41 %, increasing to 45.95 % at 1 month post-discharge. Prognostic factors for death within 1 month include low Glasgow score, small hematoma diameter, and low hematoma volume. Factors associated with recovery include young age, absence of ventricle hemorrhage, and high Glasgow score. ConclusionsSuboccipital craniotomy demonstrates a high efficacy in resolving hematomas with decreased complication rates, lower mortality, and improved patient recovery outcomes. Optimal surgical outcomes would be achieved with early intervention, particularly in younger patients.

Effect of a Neuromodulation Protocol Associated With Sports Training on the Precision Sports Performance of a Wheelchair Basketball Para-Athlete: A Case Study.

To investigate whether transcranial direct-current stimulation (tDCS) optimizes the performance of a wheelchair basketball player on precision tasks. A right-handed wheelchair basketball player (1.5 points functional class) with myelomeningocele (low lumbar level) participated in this case study. The tDCS neuromodulation protocol was applied throughout 10 interventions of 20 minutes with a current intensity of 2mA, simultaneously with sport-specific training, 3times a week for 4weeks. Anodic stimulation was performed on the right cerebellar hemisphere (CB2) and cathodic stimulation in the left dorsolateral prefrontal cortex. A control participant was submitted to a sham-tDCS stimulation protocol for the same period. Functional performance was assessed before the intervention and after the 5th and 10th interventions using "pass accuracy," "free-throw shooting," and "spot shot" tests. Outcome measures were compared using percentage differences between preintervention, intermediate intervention, and postintervention values. There was a gradual increase in the athlete's total and average scores in all tests performed, with an overall improvement of 78% between the baseline and final assessments, while the control participant had an overall improvement of 6.5%. The tDCS protocol was effective in improving performance in precision activities in a wheelchair basketball player.

Diagnosis and Management Approaches for Cerebellar Hydatid Cysts: A Systematic Review of Cases.

Cerebellar hydatid cysts are uncommon lesions, with limited cases reported in the literature. This systematic review aimed to summarize current diagnostic and management approaches, given the low suspicion index of hydatid cysts in the cerebellum. The review was registered in the International Prospective Register of Systematic Reviews (PROSPERO)under registration number CRD42023437853. This study followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA-P)reporting guidelines. Two independent researchers searched PubMed, Scopus, and Google Scholar databases on June 27, 2023. We included 15 studies published between 1965 and 2022, comprising 12 case reports and three case series. A pooled analysis of reported cases (nine females and seven males) with cerebellar hydatid cysts revealed a mean age of 24 ± 20 years. Most of the cases were reported in Turkish hospitals (n = 8). The prominent signs and symptoms observed were headaches (10, 62.5%), ataxic gait (9, 56.25%), and visual disturbances (9, 56.25%). The time from symptom onset to hospital visit varied, with most patients seeking medical attention within the first three months. The left cerebellar hemisphere was the most common location of the cysts (6, 37.5%), and compression of the fourth ventricle was frequently observed. Computed tomography (CT) and magnetic resonance imaging (MRI) were the primary diagnostic tools used in three-fourths of cases, and surgical intervention was the primary treatment approach. Albendazole and praziquantel were commonly prescribed postoperatively, and two patients underwent preoperative needle decompression.This systematic review contributes to a better understanding of cerebellar hydatid cysts and guides future research and clinical management of this entity.

Basilar Artery, Anterior Inferior Cerebellar Artery, Superior Cerebellar Artery

The basilar artery(BA)is formed by the fusion of two longitudinal arteries, and incomplete development may lead to BA fenestration. The BA provides many short perforating arteries and long lateral pontine arteries to the brain stem. The anterior inferior cerebellar artery(AICA)usually branches from the proximal third of the BA and primarily perfuses the ventral, inferior and lateral aspect of the cerebellum and inner ear organ. However, there are many variations to the AICA that depend on the degree of posterior inferior cerebellar artery development. The superior cerebellar artery(SCA)branches into not only to the rostral, ventral aspect of the cerebellar hemisphere, but also to the deeper cerebellar nucleus and brain stem. Duplications within this vessel are frequently identified, but it is not missing.

Ultra-high-field 7-Tesla magnetic resonance imaging in fragile X tremor/ataxia syndrome (FXTAS).

Fragile X tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder characterized by premutation expansion of fragile X mental retardation 1 (FMR1) gene. It is a common single-gene cause of tremor, ataxia, and cognitive decline in adults. FXTAS affects the central, peripheral and autonomic nervous systems, leading to a range of neurological symptoms from dementia to dysautonomia. A characteristic imaging feature of FXTAS is symmetric T2 hyperintensity in the deep white matter of the cerebellar hemispheres and middle cerebral peduncle. However, recent studies have reported additional findings on diffusion weighted images (DWI), such as a symmetric high-intensity band-like signal at the cerebral corticomedullary junction. These findings, along with the characteristic cerebellar signal alterations, overlap with imaging findings seen in adult-onset neuronal intranuclear inclusion disease (NIID). Importantly, recent pathology studies have shown that both FXTAS and NIID can manifest intranuclear inclusion bodies, posing a diagnostic challenge and potential for misdiagnosis. We describe a 58-year-old man with FXTAS who received an erroneous diagnosis based on imaging and histopathology results. We emphasize the potential pitfalls in distinguishing NIID from FXTAS and stress the importance of genetic analysis in all cases with suspected NIID and FXTAS for confirmation. Additionally, we present the 7T MRI brain findings of FXTAS.

Periventricular and Intraventricular Tumors in a Low-Income Country: Hard Learning Curve and Outcome of a Young Neurosurgeon from Burkina Faso

Background: Periventricular and Intraventricular processes are life-threatening conditions because of their propensity to obstruct Cerebrospinal fluid pathways and to compress highly functional and vital structures. There are deep-seated lesions requiring rigorous microsurgical technic for their resection. Methods: We retrospectively analyzed the profile and outcome of Periventricular and intraventricular processes operated by the same author since his return in his country in 2015, after graduated abroad in WFNS Rabat training center program 2023. Result: We defined 15 patients operated over 8 years. There were 4 processes in lateral ventricle (26.6%), 1 in third ventricle (6.6%), 2 thalamus processes (13.3%), 4 in fourth ventricle (26.6%) and finally 4 in cerebellar hemisphere and violating the fourth ventricle (26.6%). Various surgical approaches were used, such as contralateral interhemispheric transcallosal, classical interhemispheric transcallosal, Subfrontal transbasal translamina terminalis, Frontal Transcortical, Temporal trans T2, ventriculoperitoneal shunting, endoscopy, cerebellar transcotical approach and Telovelar approach. Surgical procedure duration was more than 10 hours in 12 cases (80%) and one third of the patients have been operated in 2018. When neurosurgical operative microscope was not available, ophthalmologic microscope or binocular with headlight were used to achieve the resection. Pathological examination revealed High-grade glioma, subependymal giant cell astrocytoma (SEGA), central neurocytoma, Subependymoma, Hemangioblastoma, pilocytique astrocytoma, Medulloblastoma, gemiocytic astrocytoma, atypical papilloma of choroid plexus, craniopharygioma and cyst of septum pellucidum. We reported good postoperative outcome in 10 cases (66.6%), moderate postoperative deficit in 1 case and 4 cases of postoperative death (26.6%) among which 3 cases of postoperative meningitis. Conclusion: Periventricular and intraventricular processes can be safely approach in low-income country with acceptable result. However young African Neurosurgeon should be trained to be comfortable with multiple surgical approaches and also with binocular as well as with microscope. WFNS training program is a strong basement for the take-off of young African neurosurgeon. Backing home should be the rule after training, to develop neurosurgery.

Tigroid Enhancement: A Characteristic Enhancement Pattern of the Cerebellar Hemisphere on MRI With Intracranial Dural Arteriovenous Fistulas.

This study aims to investigate a characteristic cerebellar hemisphere enhancement pattern on magnetic resonance imaging (MRI) that could aid in early and specific diagnosis of intracranial dural arteriovenous fistulas (DAVFs). Pretreatment MR images of 57 patients with intracranial DAVFs between January 1, 2017, and February 28, 2023, were retrospectively analyzed. A total of 128 patients with confirmed alternative cerebellar lesions during the same period were included as a control group. All patients underwent enhanced MRI with a 3.0T scanner. The presence or absence of parallel enhanced linear striations on the surface of the cerebellar lesions was documented. Statistically significant differences were determined by the Fisher exact test. Cerebellar lesions were identified in 4 intracranial DAVF patients (7.0%). All 4 patients were male, with an average age of 64 years (range: 58-76 years). The pretreatment MR images of all 4 DAVF patients with cerebellar lesions demonstrated the characteristic tigroid enhancement pattern. Tortuous flow voids were present in the MR images of 3 of the 4 patients. Tigroid enhancement pattern was not observed in the remaining 53 intracranial DAVF patients and all control patients. The differences in the incidence of the pattern were significant (p=0.01). A characteristic tigroid enhancement pattern of the cerebellar hemisphere on MRI may aid in the early and specific diagnosis of intracranial DAVFs, allowing timely treatment and improving outcomes. The identification of a characteristic tigroid enhancement pattern on MRI for cerebellar hemisphere lesions holds significant promise for clinical practice. This pattern serves as a distinctive marker aiding in the early and specific diagnosis of intracranial dural arteriovenous fistulas (DAVFs). Clinicians can now utilize this innovative finding to expedite diagnostic workflows, enabling timely intervention and management strategies. The incorporation of this novel imaging feature enhances diagnostic accuracy, potentially reducing misdiagnosis rates and preventing delays in treatment initiation. Ultimately, this advancement may lead to improved patient outcomes and quality of care in neurosurgical and neuroradiological practice.

Pediatric hemispheric cerebellar low-grade gliomas: clinical approach, diagnosis, and management challenges-experience at a tertiary care children's hospital.

This study aims to provide an exhaustive analysis of pediatric low-grade gliomas (pLGGs) in the cerebellar hemispheres, focusing on incidence, clinical characteristics, surgical outcomes, and prognosis. It seeks to enhance understanding and management of pLGGs in the pediatric population. We conducted an observational, descriptive, retrospective, and cross-sectional study at a pediatric hospital, reviewing medical records of 30 patients with cerebellar hemispheric pLGGs treated from December 2014 to January 2023. Data collection included demographics, clinical presentation, imaging findings, surgical approach, postoperative complications, histopathological diagnosis, hydrocephalus management, and follow-up. Molecular markers and adjuvant therapies were also analyzed. The cohort predominantly presented with cerebellar symptoms, with 60% showing hydrocephalus at diagnosis. MRI with gadolinium was crucial for diagnosis. Surgical focus was on achieving gross total resection (GTR), accomplished in 70% of cases. Postsurgical hydrocephalus was less common, and cerebellar mutism was not reported. While a complete molecular analysis was not performed in all cases, available data suggest significant influence of molecular markers on prognosis and therapeutic options of pLGGs. This study highlights the unique clinical and molecular characteristics of cerebellar hemispheric pLGGs in children. The lower incidence of postoperative hydrocephalus and absence of cerebellar mutism are notable findings. Emphasizing a multidisciplinary approach, our findings contribute to a deeper understanding of pediatric pLGGs, underscoring the need for personalized treatment strategies and vigilant follow-up.