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The Lancet. Oncology Aug 2007Suspicion of a CNS tumour is classically raised by symptoms of raised intracranial pressure, focal deficits (including seizures), or papilloedema. Development of... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Suspicion of a CNS tumour is classically raised by symptoms of raised intracranial pressure, focal deficits (including seizures), or papilloedema. Development of guidelines is needed for the identification and referral of children who might have a CNS tumour. We did a systematic literature review and meta-analysis to identify the clinical presentation of childhood CNS tumours to provide evidence to support the development of guidelines to assist with the identification and referral for imaging of children who might have a central nervous system tumour.
METHODS
Medline, Embase, and PubMed were searched for cohort studies and case series in children, published between January, 1991, and August, 2005, detailing the symptoms and signs at diagnosis of a CNS tumour.
FINDINGS
74 papers (n=4171) met the inclusion criteria. 56 symptoms and signs at diagnosis were identified, ranked by frequency, and clustered according to age, anatomical criteria, and genetic criteria. The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and optic atrophy (15%) for children with an intracranial tumour and neurofibromatosis; nausea and vomiting (75%), headache (67%), abnormal gait and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours. Other features noted were weight loss, growth failure, and precocious puberty. Symptoms of raised intracranial pressure were absent in more than half of children with brain tumours. Other neurological features were heterogeneous and related to tumour location.
INTERPRETATION
Apart from raised intracranial pressure, motor and visual system abnormalities, weight loss, macrocephaly, growth failure, and precocious puberty also suggest presence of an intracranial tumour. Children with signs and symptoms that could result from a CNS tumour need a thorough visual and motor system examination and an assessment of growth and pubertal status. Occurrence of multiple symptoms and signs should alert clinicians to possible CNS tumours.
Topics: Central Nervous System Neoplasms; Child; Child Behavior Disorders; Headache; Humans; Neuropsychological Tests; Unconsciousness; Vision Disorders; Vomiting
PubMed: 17644483
DOI: 10.1016/S1470-2045(07)70207-3 -
Neurosurgical Review Jun 2021There is a lack of class I evidence concerning the impact of surgery in the treatment of diffuse low-grade glioma; the early maximal resection with preservation of... (Meta-Analysis)
Meta-Analysis
There is a lack of class I evidence concerning the impact of surgery in the treatment of diffuse low-grade glioma; the early maximal resection with preservation of eloquent brain areas has been accepted as the first therapeutic option. We performed a systematic review of the literature using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines and protocol. Inclusion criteria: only case series with at least 100 patients containing supratentorial hemispheric diffuse low-grade glioma (according to any of the WHO classification used in papers published between 2000 to 2019), with pre- and postoperative MRI study were included in the qualitative and quantitative analyses. The extent of resection should be defined based on MRI at least in two categories and correlated with patients' outcomes (with univariate or multivariate analyses) using overall survival (OS) or malignant progression-free survival (MPFS). A total of 18 series with 4386 patients, published in 20 papers, were included in this systematic review. All the series that evaluates the relation between the extent of resection (EOR) and OS showed a statistically significant improvement of OS at univariate and/or multivariate analyzes with a greater EOR. Six studies showed a statistically significant improvement of MPFS with a greater EOR. We demonstrate that when a more rigorous analysis of EOR is performed, a benefit of a more aggressive resection on OS and MPFS is observed. Our review about EOR in different molecular groups of DLGG also suggests a benefit of maximum safe resection for all different subtypes, even though "radical surgery" may be associated with better OS and MPFS in tumors with a more aggressive signature.
Topics: Biomarkers, Tumor; Brain Neoplasms; Glioma; Humans; Magnetic Resonance Imaging; Neoplasm Grading; Neurosurgical Procedures; Prospective Studies; Retrospective Studies; Treatment Outcome
PubMed: 32770298
DOI: 10.1007/s10143-020-01362-8 -
The Cochrane Database of Systematic... 2001Patients with isolated supratentorial brain tumours, presumed to be primary on imaging, have two surgical management options - biopsy or resection. Surgical opinions... (Review)
Review
BACKGROUND
Patients with isolated supratentorial brain tumours, presumed to be primary on imaging, have two surgical management options - biopsy or resection. Surgical opinions appear to be equally divided when considering the relative risks and benefits of these two procedures.
OBJECTIVES
To estimate the clinical effectiveness of radical surgical resection compared to simple biopsy in patients with malignant glioma.
SEARCH STRATEGY
Electronic database searches of COCHRANE CONTROLLED TRIALS REGISTER (including the Cochrane Cancer Network Specialised Register of Trials), MEDLINE, CANCERLIT, EMBASE, BIOSIS and SCIENCE CITATION INDEX. Hand searching the references of all identified studies; hand searching the Journal of Neuro-Oncology over the previous 10 years, including all conference abstracts; personal communication.
SELECTION CRITERIA
Randomised and clinical controlled trials were included if they compared biopsy to resection, or looked at effect of extent of resection on survival, time to progression or quality of life, for malignant glioma patients of all ages.
DATA COLLECTION AND ANALYSIS
Studies were to be identified, critically appraised and data extracted by the author (SEM). Ideally hazard ratios for overall survival were to be calculated along with the estimates of odds ratios from the percentage survival at one and two years. For dichotomous data, Peto odds ratios (OR) with 95% confidence intervals (CI) were hoped to have been estimated. Normal continuous data were to have been summated using the weighted mean difference (WMD).
MAIN RESULTS
The electronic database search yielded 2100 citations. Of these, two articles were identified for possible inclusion, however both were excluded. The hand search and personal communication were similarly unproductive. No studies were included in the review and no data was synthesised.
REVIEWER'S CONCLUSIONS
Given that no qualifying studies were identified and because this is an important issue, both in terms of patient risk and benefit and health economics, the authors feels it important to conduct a randomised controlled trial in this subject.
Topics: Biopsy; Brain Neoplasms; Craniotomy; Glioma; Humans; Randomized Controlled Trials as Topic; Risk; Stereotaxic Techniques
PubMed: 11687008
DOI: 10.1002/14651858.CD002034 -
Journal of Neurosurgery Aug 2011Seizures are the most frequent presenting symptom in patients with low-grade gliomas (LGGs), and significantly influence quality of life if they are uncontrolled.... (Review)
Review
OBJECT
Seizures are the most frequent presenting symptom in patients with low-grade gliomas (LGGs), and significantly influence quality of life if they are uncontrolled. Achieving freedom from seizures is of utmost importance in surgical planning, but the factors associated with seizure control remain incompletely understood.
METHODS
The authors performed a systematic literature review of seizure outcomes after resection of LGGs causing seizures, examining 773 patients across 20 published series. Rates of seizure freedom were stratified across 7 variables: patient age, tumor location, preoperative seizure control with medication, seizure semiology, epilepsy duration, extent of resection, and the use of intraoperative electrocorticography (ECoG).
RESULTS
Gross-total resection was most predictive of complete seizure freedom, when compared with subtotal resection (OR 3.41, 95% CI 2.36-4.93). Other predictors of seizure freedom included preoperative seizure control on antiepileptic medication (OR 2.12, 95% CI 1.33-3.38) and duration of seizures of ≤ 1 year (OR 1.85, 95% CI 1.22-2.79). Patients with simple partial seizure semiology achieved seizure freedom less often than those with complex partial, generalized, or mixed seizure types (OR 0.46, 95% CI 0.26-0.80). No significant differences in seizure outcome were observed between adults versus children, patients with temporal lobe versus extratemporal tumors, or with the use of intraoperative ECoG.
CONCLUSIONS
Seizure control is one of the most important considerations in planning surgery for low-grade brain tumors. Gross-total resection is a critical factor in achieving seizure freedom.
Topics: Adult; Brain; Brain Neoplasms; Child; Glioma; Humans; Seizures; Treatment Outcome
PubMed: 21529134
DOI: 10.3171/2011.3.JNS1153 -
Cerebellum (London, England) Apr 2024The term Pontocerebellar Hypoplasia (PCH) was initially used to designate a heterogeneous group of fetal-onset genetic neurodegenerative disorders. As a descriptive...
The term Pontocerebellar Hypoplasia (PCH) was initially used to designate a heterogeneous group of fetal-onset genetic neurodegenerative disorders. As a descriptive term, PCH refers to pons and cerebellum of reduced volume. In addition to the classic PCH types described in OMIM, many other disorders can result in a similar imaging appearance. This study aims to review imaging, clinical and genetic features and underlying etiologies of a cohort of children with PCH on imaging. We systematically reviewed brain images and clinical charts of 38 patients with radiologic evidence of PCH. Our cohort included 21 males and 17 females, with ages ranging between 8 days to 15 years. All individuals had pons and cerebellar vermis hypoplasia, and 63% had cerebellar hemisphere hypoplasia. Supratentorial anomalies were found in 71%. An underlying etiology was identified in 68% and included chromosomal (21%), monogenic (34%) and acquired (13%) causes. Only one patient had pathogenic variants in an OMIM listed PCH gene. Outcomes were poor regardless of etiology, though no one had regression. Approximately one third of patients deceased at a median age of 8 months. All individuals had global developmental delay, 50% were non-verbal, 64% were non-ambulatory and 45% required gastrostomy feeding. This cohort demonstrates that radiologic PCH has heterogenous etiologies and the "classic" OMIM-listed PCH genes underlie only a minority of cases. Broad genetic testing, including chromosomal microarray and exome or multigene panels, is recommended in individuals with PCH-like imaging appearance. Our results strongly suggest that the term PCH should be used to designate radiologic findings, and not to imply neurogenerative disorders.
Topics: Male; Child; Female; Humans; Infant; Cerebellar Diseases; Cerebellum; Pons; Magnetic Resonance Imaging; Developmental Disabilities; Nervous System Malformations
PubMed: 36971923
DOI: 10.1007/s12311-023-01544-2 -
Acta Neurochirurgica Apr 2020Posterior fossa arteriovenous malformations (pfAVMs) can be challenging lesions to manage. AVMs in this location may have distinct features compared with supratentorial... (Comparative Study)
Comparative Study Meta-Analysis
BACKGROUND
Posterior fossa arteriovenous malformations (pfAVMs) can be challenging lesions to manage. AVMs in this location may have distinct features compared with supratentorial AVMs. Our aim was to systematically review the literature on the presenting characteristics of pfAVMs and compare clinical and angiographic outcomes after the various types of treatment employed.
METHODS
The review was conducted according to the Cochrane Collaboration guidelines. Electronic databases from 1900 to March 2018 were searched and complemented by hand-searching and cross-referencing. Articles were categorized into (i) AVM studies that included those in the posterior fossa, (ii) those that focused exclusively on pfAVM, and (iii) those that further specified a cerebellar or brainstem location of the AVM.
RESULTS
Seventy-seven articles with 4512 pfAVM patients were retained for analyses. Compared with historical supratentorial controls, pfAVMs were reported to more frequently present with rupture, to more commonly have associated arterial aneurysms, and to more frequently lead to poor clinical and angiographic outcomes. The quality of the literature and lack of standardization of outcome reporting precluded performing a meta-analysis on the results of the various different treatment modalities.
CONCLUSIONS
Posterior fossa AVMs may have some distinct features compared with supratentorial AVMs. The available reports on pfAVMs are not sufficiently standardized to provide reliable guidance for patient management decisions. This goal will require future studies to be multicentric and to focus on standardized, repeatable clinical and angiographic outcomes.
Topics: Adult; Cranial Fossa, Posterior; Female; Humans; Intracranial Arteriovenous Malformations; Male; Middle Aged; Neurosurgical Procedures; Postoperative Complications
PubMed: 32067118
DOI: 10.1007/s00701-020-04260-6 -
Prenatal Diagnosis Jan 2021Posterior fossa abnormalities (PFAs) are commonly identified within routine screening and are a frequent indication for fetal magnetic resonance imaging (MRI). Although...
BACKGROUND
Posterior fossa abnormalities (PFAs) are commonly identified within routine screening and are a frequent indication for fetal magnetic resonance imaging (MRI). Although biometric measurements of the posterior fossa (PF) are established on fetal ultrasound and MRI, qualitative visual assessments are predominantly used to differentiate PFAs.
OBJECTIVES
This systematic review aimed to assess 2-dimensional (2D) biometric measurements currently in use for assessing the PF on fetal MRI to delineate different PFAs.
METHODS
The protocol was registered (PROSPERO ID CRD42019142162). Eligible studies included T2-weighted MRI PF measurements in fetuses with and without PFAs, including measurements of the PF, or other brain areas relevant to PFAs.
RESULTS
59 studies were included - 6859 fetuses had 62 2D PF and related measurements. These included linear, area and angular measurements, representing measures of PF size, cerebellum/vermis, brainstem, and supratentorial measurements. 11 measurements were used in 10 or more studies and at least 1200 fetuses. These dimensions were used to characterise normal for gestational age, diagnose a range of pathologies, and predict outcome.
CONCLUSION
A selection of validated 2D biometric measurements of the PF on fetal MRI may be useful for identification of PFA in different clinical settings. Consistent use of these measures, both clinically and for research, is recommended.
Topics: Biometry; Brain Stem; Cerebellum; Cranial Fossa, Posterior; Female; Fetus; Humans; Magnetic Resonance Imaging; Organ Size; Pregnancy; Ultrasonography, Prenatal
PubMed: 33251640
DOI: 10.1002/pd.5874 -
Neurological Sciences : Official... Jul 2022Intradural disc herniation (IDH) can manifest with radicular or medullary syndrome. In about 15% of cases, IDH may be responsible, through a dural laceration, for a CSF... (Review)
Review
Diagnostic approach, therapeutic strategies, and surgical indications in intradural thoracic disc herniation associated with CSF leak, intracranial hypotension, and CNS superficial siderosis.
BACKGROUND AND PURPOSE
Intradural disc herniation (IDH) can manifest with radicular or medullary syndrome. In about 15% of cases, IDH may be responsible, through a dural laceration, for a CSF leak, determining spontaneous intracranial hypotension (SIH) and CNS superficial siderosis (CNSss). This paper attempts to present an overview on IDH as the cause for both CSF leak, and subsequent SIH, and CNSss, and to describe a peculiar clinical and neuroradiological scenario related to this condition.
METHODS
A search on the PUBMED database was performed. Although the investigation did not rigorously follow the criteria for a systematic review (we consider only articles about thoracic IDH), nonetheless, the best quality evidence was pursued. Furthermore, an illustrative case was presented.
RESULTS
A 69-year-old woman was referred to our hospital for slowly progressive gait disturbances and hearing impairment. Brain imaging revealed diffuse bilateral supratentorial and infratentorial superficial siderosis, mostly of the cerebellum, the eighth cranial nerves, and the brainstem. Spinal imaging disclosed a posterior disc herniation determining a dural tear at D6-D7. Lumbar puncture revealed low opening pressure and hemorrhagic CSF with siderophages. A posterior transdural herniectomy and dural sealing determined a stabilization of hearing and a significant improvement in both gait and balance.
CONCLUSIONS
The diagnostic workup of CNSss with suspected CNS leak demands whole neuraxis imaging, especially in cases presenting SIH or myelopathic symptoms. This may avoid delays in detection of IDH and spinal dural leaks. The different forms of treatment available depend on the type and severity of the clinical picture.
Topics: Aged; Cerebrospinal Fluid Leak; Female; Humans; Intervertebral Disc Displacement; Intracranial Hypotension; Magnetic Resonance Imaging; Siderosis; Thoracic Vertebrae
PubMed: 35396636
DOI: 10.1007/s10072-022-06059-y -
World Neurosurgery Dec 2022Bilateral thalamic gliomas (BTGs) are rare central nervous system tumors, and the outcome is usually dismal. BTG often harbors an EGFR mutation; however, a mutation in...
BACKGROUND
Bilateral thalamic gliomas (BTGs) are rare central nervous system tumors, and the outcome is usually dismal. BTG often harbors an EGFR mutation; however, a mutation in H3K27M is rare. We described 5 cases of BTGs harboring concomitant alterations of EGFR and H3K27M and retrospectively analyzed the clinicopathological features and prognosis of this rare entity.
METHODS
Clinical data of patients were retrieved, and immunohistochemistry and molecular analyses were performed. In addition, a systematic review of literature was conducted using PubMed.
RESULTS
Median patient age was 6 years (range, 3-9 years). The male-to-female ratio was 3:2. Tremors and disturbed speech were the main clinical manifestations. All lesions were located at bilateral thalami, and in 3 of 4 patients, the more significant thalamic lesion was on the left. Two patients harbored insertion mutations in exon 20 of EGFR, 1 missense mutation in exon 7 of EGFR, and 2 EGFR amplifications. After a median overall survival of 8 months, 3 patients died as a result of tumor progression.
CONCLUSIONS
Concomitant alterations of EGFR and H3K27M might indicate a new subtype of diffuse midline glioma, H3K27M-altered. In addition, EGFR alterations could provide potential molecular therapeutic strategies to improve the dismal prognosis of BTGs. Due to the rarity of these tumors, more cases must be collected to study the pathogenesis, treatment, and clinical outcomes of BTGs with double alteration phenotypes.
Topics: Female; Humans; Male; Brain Neoplasms; ErbB Receptors; Glioma; Mutation; Prognosis; Retrospective Studies; Supratentorial Neoplasms; Child, Preschool; Child
PubMed: 36195182
DOI: 10.1016/j.wneu.2022.09.118 -
Journal of the Neurological Sciences Jun 2024Sarcoidosis can be associated with stroke. Whether granulomatous vasculitis directly causes stroke in patients with sarcoidosis remains unclear. This systematic review...
BACKGROUND
Sarcoidosis can be associated with stroke. Whether granulomatous vasculitis directly causes stroke in patients with sarcoidosis remains unclear. This systematic review aims to consolidate reports of concurrent sarcoidosis and stroke.
METHODS
Medline and Embase were searched for terms encompassing sarcoidosis and stroke with a censoring date of March 25, 2023. Cases were reviewed by two authors, with the inclusion criteria: biopsy-confirmed systemic sarcoidosis, stroke confirmed by imaging or pathology, clinical description of individual patient history, and English language publications.
RESULTS
Of 1628 articles screened, 51 patients from 49 articles were included (65% male, mean age 41 years). Seventy-one percent of strokes were ischemic and 29% were hemorrhagic. Lesions were supratentorial in 78% of cases, infratentorial in 34%, and multifocal in 45%. Presenting symptoms were variable, with the most common being headache (38%) followed by weakness (35%). 10 patients had recurrent strokes. Stroke was the presenting symptom of sarcoidosis in 65%. 21 patients had brain biopsies. The most common neuropathologic findings were perivascular (33%) or intramural (33%) non-caseating granulomas. On imaging, 32 patients had findings suggestive of neurosarcoidosis, including 35% with evidence of meningeal enhancement. 63% of patients were treated with corticosteroids and/or other immunomodulatory therapy, with varying clinical improvement.
CONCLUSIONS
Stroke associated with sarcoidosis generally follows trends in stroke incidence, with infarction being more common than hemorrhage and male sex carrying a higher risk. Most patients were diagnosed with sarcoidosis during or following their stroke episode. Brain biopsy infrequently shows clear granulomatous vasculitis.
PubMed: 38850770
DOI: 10.1016/j.jns.2024.123080