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Child's Nervous System : ChNS :... May 2024ETMR is a unique and highly malignant brain tumor mostly occurring in infants. This report provides a comprehensive overview of the clinical presentation, histological...
BACKGROUND
ETMR is a unique and highly malignant brain tumor mostly occurring in infants. This report provides a comprehensive overview of the clinical presentation, histological aspects, radiological features, and therapeutic options of ETMR. Being the first report on the co-occurrence of NF1 with ETMR, it highlight the challenges of managing a patient with complex medical conditions.
CASE REPORT
We present a case of a 3 and 1/2-year-old girl with neurofibromatosis type 1 (NF1), later diagnosed with a supratentorial brain tumor reported as an embryonal tumor with multilayered rosettes (ETMR), along with possible co-occurrence of constitutional mismatch repair deficiency (CMMRD) on immunohistochemistry (IHC); however, germline testing was not performed. Even though NF1 can be associated with tumors such as gliomas, the literature has no previous case reports of ETMR coexisting with NF1.
CONCLUSION
Exploring the link between NF1 and ETMR with CMMRD is crucial to improving and establishing more treatment protocols. Therefore, reporting each case's unique features would be essential in developing appropriate treatment protocols.
PubMed: 38713208
DOI: 10.1007/s00381-024-06442-4 -
World Neurosurgery May 2024Brain metastases from esophageal cancer (BMEC) are rare and aggressive, with limited literature on optimal treatment modalities and a standard of care yet to be...
BACKGROUND
Brain metastases from esophageal cancer (BMEC) are rare and aggressive, with limited literature on optimal treatment modalities and a standard of care yet to be established. The objective of this study was to systematically review existing literature and perform a retrospective analysis of our institution's patients to evaluate the influence of different treatment modalities on patient outcomes.
METHODS
A systematic review of the literature following Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA) guidelines and a retrospective review of our institutional experience with BMEC were both conducted. Data based on mean survival,histology, metastasis location, and treatment modality were abstracted.
RESULTS
A total of 48 studies representing 136 patients with BMEC were identified, in addition to the 11 patients treated at our institution. There were a total of 100 males (12 unreported), with a median age of 62.2 at diagnosis in our systematic review, along with 8 males with a median age of 62 in our institutional review. Collectively, survival rates observed based on histology were not similar (squamous cell carcinoma: 9.2 months, adenocarcinoma: 13.4 months), however, based on treatment modalities (surgery: 11.6 months, radiation: 10.4 months, chemotherapy: 12.3 months), and metastasis location (supratentorial: 10.5 months, infratentorial: 9.9 months), the survival times were comparable.
CONCLUSIONS
Our review suggests that causes of death were often independent of brain metastases highlighting the need for further studies on early detection and prevention of primary esophageal cancer, as well as improved treatment modalities for BMECs.
PubMed: 38704143
DOI: 10.1016/j.wneu.2024.04.130 -
The Neuroradiology Journal May 2024Primary central nervous system lymphoma (PCNSL) represents 5% of malignant primary brain tumors. The clinical presentation typically includes focal neurological... (Review)
Review
Primary central nervous system lymphoma (PCNSL) represents 5% of malignant primary brain tumors. The clinical presentation typically includes focal neurological symptoms, increased intracranial pressure, seizures, and psychiatric symptoms. Although histological examination remains the gold standard for diagnostic confirmation, non-invasive imaging plays a crucial role for the diagnosis. In immunocompetent individuals, PCNSL usually appears as a single, well-defined, supratentorial lesion with a predilection for periventricular areas, iso- or hypointense on T1- and T2-weighted magnetic resonance imaging, with restricted diffusion, slightly increased perfusion, and homogenous gadolinium-enhancement. Differential diagnoses include high-grade glioma and pseudotumoral demyelinating disease. In immunocompromised patients, PCNSL may present as multiple lesions, with a higher likelihood of hemorrhage and necrosis and less restricted diffusion than immunocompetent individuals. Differential diagnoses include neurotoxoplasmosis, progressive multifocal leukoencephalopathy, and cerebral abscess. Atypical forms of lymphoma are characterized by extra-axial lymphoma, lymphomatosis cerebri, and intravascular lymphoma. Extra-axial lymphoma presents as single or multiple extra-axial dural lesions with diffuse leptomeningeal contrast-enhancement. Lymphomatosis cerebri appears as an infiltrative and symmetric lesion, primarily affecting deep white matter and basal ganglia, appearing hyperintense on T2-weighted imaging, without significant contrast-enhancement or perfusion changes. Intravascular lymphoma presents as multiple rounded or oval-shaped "infarct-like" lesions, located cortically or subcortically. This study aims to highlight the imaging characteristics of PCNSL, focusing on magnetic resonance imaging and its differential diagnosis.
PubMed: 38703015
DOI: 10.1177/19714009241252625 -
Brain & Spine 2024Intraoperative Neurophysiological Monitoring (IOM) is widely used in neurosurgery but specific guidelines are lacking. Therefore, we can assume differences in IOM...
INTRODUCTION
Intraoperative Neurophysiological Monitoring (IOM) is widely used in neurosurgery but specific guidelines are lacking. Therefore, we can assume differences in IOM application between Neurosurgical centers.
RESEARCH QUESTION
The section of Functional Neurosurgery of the Italian Society of Neurosurgery realized a survey aiming to obtain general data on the current practice of IOM in Italy.
MATERIALS AND METHODS
A 22-item questionnaire was designed focusing on: volume procedures, indications, awake surgery, experience, organization and equipe. The questionnaire has been sent to Italian Neurosurgery centers.
RESULTS
A total of 54 centers completed the survey. The annual volume of surgeries range from 300 to 2000, and IOM is used in 10-20% of the procedures. In 46% of the cases is a neurologist or a neurophysiologist who performs IOM. For supra-tentorial pathology, almost all perform MEPs (94%) SSEPs (89%), direct cortical stimulation (85%). All centers perform IOM in spinal surgery and 95% in posterior fossa surgery. Among the 50% that perform peripheral nerve surgery, all use IOM. Awake surgery is performed by 70% of centers. The neurosurgeon is the only responsible for IOM in 35% of centers. In 83% of cases IOM implementation is adequate to the request.
DISCUSSION AND CONCLUSIONS
The Italian Neurosurgical centers perform IOM with high level of specialization, but differences exist in organization, techniques, and expertise. Our survey provides a snapshot of the state of the art in Italy and it could be a starting point to implement a consensus on the practice of IOM.
PubMed: 38698806
DOI: 10.1016/j.bas.2024.102796 -
Pediatric Blood & Cancer Jul 2024Children and adolescents treated for a brain tumor suffer from more fatigue than survivors of other types of childhood cancer. As tumor location might be predictive of...
BACKGROUND
Children and adolescents treated for a brain tumor suffer from more fatigue than survivors of other types of childhood cancer. As tumor location might be predictive of fatigue, our aim was to investigate the longitudinal development of fatigue in children with brain tumors and risk factors for fatigue separately for different tumor locations.
METHODS
Fatigue was assessed 1235 times for 425 participants. Self-report versions of PedsQL Multidimensional Fatigue Scale were used to repeatedly assess fatigue from the end of treatment up to 8 years later. Mixed models were used to analyze fatigue over time and determinants separately for infratentorial (N = 205), supratentorial hemispheric (N = 91), and supratentorial midline tumors (N = 129).
RESULTS
Cognitive fatigue worsened with time, while sleep-rest and general fatigue first decreased and then increased. There was no difference in fatigue between the tumor locations, but the risk factors differed when stratified by location. Radiotherapy was associated with more fatigue for infratentorial tumors, and centralization of care was associated with less fatigue for the supratentorial midline tumors. For supratentorial hemispheric tumors, female sex was associated with more fatigue. Higher parental education was associated with less fatigue regardless of tumor location.
CONCLUSIONS
The development of fatigue seems to be more related to sociodemographic and treatment variables than to tumor location. Healthcare providers need to be aware that fatigue may develop in the years following end of treatment, and that patients with a low/middle educational family background might be more vulnerable and in need of targeted support.
Topics: Humans; Female; Male; Child; Adolescent; Fatigue; Brain Neoplasms; Risk Factors; Child, Preschool; Follow-Up Studies; Quality of Life; Prognosis
PubMed: 38698502
DOI: 10.1002/pbc.31028 -
Archives of Iranian Medicine Mar 2024Methanol-poisoning can be a challenging cause of mortality. Identifying the epidemiological, clinical, and para-clinical determinants of outcome in methanol-poisoning...
BACKGROUND
Methanol-poisoning can be a challenging cause of mortality. Identifying the epidemiological, clinical, and para-clinical determinants of outcome in methanol-poisoning patients could be a step forward to its management.
METHODS
In this hospital-based cohort study, 123 methanol-poisoning patients were included. Data on background variables, details of methanol consumption, and laboratory assessments were recorded for each patient. Patients underwent brain CT scans without contrast. We evaluated the association of all gathered clinical and para-clinical data with patients' outcome and length of hospital stay (LOS). Independent association of potential determinants of death, and LOS were modeled applying multivariable logistic, and Ordinary Least Square regressions, respectively. Odds ratio (OR), and regression coefficient (RC), and their 95% confidence intervals (CIs) were estimated.
RESULTS
Most of the study population were male (n=107/123). The mean age of the participants was 30.3±9.1 years. Ninety patients (73.2%) were reported as being conscious on admission, and 34.3% of patients were identified with at least one abnormality in their CT scan. Level of consciousness (LOC) (OR: 42.2; 95% CI: 2.35-756.50), and blood pH (OR: 0.37; 95% CI: 0.22-0.65) were associated with death. Supratentorial edema (RC: 17.55; 95% CI: 16.95-18.16) were associated with LOS.
CONCLUSION
Besides LOC, patients with any abnormality in their brain CT scan on admission were found to be at higher risk of death, and patients with supratentorial edema were at risk of longer LOS. Brain CT-scan on admission should be considered as a part of the routine procedure during the management of methanol-poisoning.
Topics: Humans; Male; Methanol; Female; Adult; Prognosis; Length of Stay; Tomography, X-Ray Computed; Young Adult; Poisoning; Iran; Logistic Models; Middle Aged; Cohort Studies; Brain
PubMed: 38685837
DOI: 10.34172/aim.2024.20 -
BMJ Case Reports Apr 2024A man in his late 40s with no known past medical history was unresponsive for an unknown period of time. Crushed pills and white residue were found on a nearby table. On...
A man in his late 40s with no known past medical history was unresponsive for an unknown period of time. Crushed pills and white residue were found on a nearby table. On presentation he was obtunded and unresponsive to verbal commands but withdrawing to painful stimuli. The initial urine drug screen was negative, but a urine fentanyl screen was subsequently positive with a level of 137.3 ng/mL. MRI of the brain showed reduced diffusivity and fluid attenuated inversion recovery (FLAIR) hyperintensity symmetrically in the bilateral supratentorial white matter, cerebellum and globus pallidus. Alternative diagnoses such as infection were considered, but ultimately the history and workup led to a diagnosis of fentanyl-induced leukoencephalopathy. Three days after admission the patient became able to track, respond to voice and follow basic one-step commands. The patient does not recall the mechanism of inhalation. While there are case reports of heroin-induced leukoencephalopathy following inhaled heroin use and many routes of fentanyl, this is the first reported case of a similar phenomenon due to fentanyl inhalation.
Topics: Humans; Fentanyl; Male; Leukoencephalopathies; Adult; Magnetic Resonance Imaging; Administration, Inhalation; Analgesics, Opioid; Brain
PubMed: 38684340
DOI: 10.1136/bcr-2023-258395 -
International Journal of Stroke :... May 2024Lacunar stroke represents around a quarter of all ischemic strokes; however, their identification with computed tomography in the hyperacute setting is challenging. We...
INTRODUCTION
Lacunar stroke represents around a quarter of all ischemic strokes; however, their identification with computed tomography in the hyperacute setting is challenging. We aimed to validate a clinical score to identify lacunar stroke in the acute setting, independently, with data from the WAKE-UP trial using magnetic resonance imaging.
METHODS
We analyzed data from the WAKE-UP trial and extracted Oxfordshire Community Stroke Project (OCSP) classification. Lacunar score was defined by National Institutes of Health Stroke Scale (NIHSS) < 7 and OCSP lacunar syndrome. Assessment of lacunar infarct by two independent investigators was blinded to clinical data. We calculated sensitivity, specificity, negative and positive predictive value (NPV and PPV, respectively) of lacunar score.
RESULTS
We included 503 patients in the analysis, mean (±SD) age 65.2 (±11.6) years, 325 (65%) males, median (IQR) NIHSS = 6 (4-9); 108 (22%) lacunar infarcts were identified on magnetic resonance (MR), patients fulfilling lacunar score criteria were 120 (24%), of which 47 (44%) had a lacunar infarct. Lacunar score was negative in 322 (82%) of patients without lacunar infarct. Patients with lacunar score had lower NIHSS (4 vs 7, p < 0.001), higher systolic (157 vs 151 mmHg, p = 0.001) and diastolic (86 vs 83 mmHg, p = 0.013) blood pressure and smaller infarct volume (2.4 vs 9.5 mL, p < 0.001). Performance of lacunar score was as follows: sensitivity 0.44; specificity 0.82; PPV 0.39; NPV 0.84; and accuracy 0.73. Assuming a prevalence of lacunar stroke of 13%, PPV lowered to 0.30 but NPV was 0.90. Lacunar score performed better for supratentorial lacunar infarcts.
CONCLUSION
Lacunar score had a very good specificity and NPV for screening of lacunar stroke. Implementation of this simple tool into clinical practice may help hyperacute management and guide patient selection in clinical trials.
DATA ACCESS STATEMENT
Data supporting the results of this paper are available upon reasonable request to the corresponding author.
PubMed: 38676549
DOI: 10.1177/17474930241253987 -
Cancers Apr 2024We aimed to differentiate the isocitrate dehydrogenase (IDH) status among non-enhanced astrocytic tumors using preoperative MRI and PET. We analyzed 82 patients with...
Predicting Isocitrate Dehydrogenase Status in Non-Contrast-Enhanced Adult-Type Astrocytic Tumors Using Diffusion Tensor Imaging and C-Methionine, C-Choline, and F-Fluorodeoxyglucose PET.
We aimed to differentiate the isocitrate dehydrogenase (IDH) status among non-enhanced astrocytic tumors using preoperative MRI and PET. We analyzed 82 patients with non-contrast-enhanced, diffuse, supratentorial astrocytic tumors (IDH mutant [IDH-mut], 55 patients; IDH-wildtype [IDH-wt], 27 patients) who underwent MRI and PET between May 2012 and December 2022. We calculated the fractional anisotropy (FA) and mean diffusivity (MD) values using diffusion tensor imaging. We evaluated the tumor/normal brain uptake (T/N) ratios using C-methionine, C-choline, and F-fluorodeoxyglucose PET; extracted the parameters with significant differences in distinguishing the IDH status; and verified their diagnostic accuracy. Patients with astrocytomas were significantly younger than those with glioblastomas. The following MRI findings were significant predictors of IDH-wt instead of IDH-mut: thalamus invasion, contralateral cerebral hemisphere invasion, location adjacent to the ventricular walls, higher FA value, and lower MD value. The T/N ratio for all tracers was significantly higher for IDH-wt than for IDH-mut. In a composite diagnosis based on nine parameters, including age, 84.4% of cases with 0-4 points were of IDH-mut; conversely, 100% of cases with 6-9 points were of IDH-wt. Composite diagnosis using all parameters, including MRI and PET findings with significant differences, may help guide treatment decisions for early-stage gliomas.
PubMed: 38672625
DOI: 10.3390/cancers16081543 -
Journal of Medical Genetics Apr 2024Pontocerebellar hypoplasia (PCH) may present with supratentorial phenotypes and is often accompanied by microcephaly. Damaging mutations in the X-linked gene produce...
BACKGROUND
Pontocerebellar hypoplasia (PCH) may present with supratentorial phenotypes and is often accompanied by microcephaly. Damaging mutations in the X-linked gene produce self-limiting microcephaly with PCH in females but are often lethal in males. CASK deficiency leads to early degeneration of cerebellar granule cells but its role in other regions of the brain remains uncertain.
METHOD
We generated a conditional knockout mice and deleted ubiquitously after birth at different times. We examined the clinical features in several subjects with damaging mutations clustered in the central part of the CASK protein. We have performed phylogenetic analysis and RT-PCR to assess the splicing pattern within the same protein region and performed in silico structural analysis to examine the effect of splicing on the CASK's structure.
RESULT
We demonstrate that deletion of murine after adulthood does not affect survival but leads to cerebellar degeneration and ataxia over time. Intriguingly, damaging hemizygous mutations in boys who display microcephaly and cerebral dysfunction but without PCH are known. These mutations are present in two vertebrate-specific exons. These exons are subject to alternative splicing both in forebrain and hindbrain. Inclusion of these exons differentially affects the molecular structure and hence possibly the function/s of the CASK C-terminus.
CONCLUSION
Loss of CASK function disproportionately affects the cerebellum. Clinical data, however, suggest that CASK may have additional vertebrate-specific function/s that play a role in the mammalian forebrain. Thus, CASK has an ancient function shared between invertebrates and vertebrates as well as novel vertebrate-specific function/s.
PubMed: 38670634
DOI: 10.1136/jmg-2023-109747