Acute radiological features facilitate diagnosis and prognosis of anti-N-methyl-d-aspartate receptor (NMDAR) and anti-voltage-gated potassium channel (VGKC) encephalitis in adults.

BACKGROUND: Anti-N-methyl-d-aspartate receptor (NMDAR) and anti-voltage-gated potassium channel (VGKC) encephalitis are the commonest antibody-associated autoimmune encephalitides (AIE). Acute clinical features have been well-described, but data on the role of radiological findings in diagnosis and prognosis of AIE are limited. METHODS: Anti-NMDAR and anti-VGKC encephalitis patients from the National Neuroscience Institute were identified. We compared clinical and paraclinical features, at acute presentation and on follow-up between and within groups. RESULTS: Twenty-six anti-NMDAR and 11 anti-VGKC encephalitis patients were reviewed. At acute presentation, dysautonomia (57.7%) and impairment of consciousness (84.6%) occurred exclusively in anti-NMDAR encephalitis. Cerebrospinal fluid pleocytosis was more common in anti-NMDAR encephalitis (88.5% vs 20.0%, p = 0.003), while ictal electroencephalography abnormalities were more frequent in anti-VGKC encephalitis (11.5% vs 45.5%, p = 0.022). On acute imaging, leptomeningeal enhancement was seen only in anti-NMDAR encephalitis (37.5%), while hippocampal T2 hyperintensities supported the diagnosis of anti-VGKC encephalitis (63.6% vs 12.5%, p = 0.002). At follow-up (median 53.0 months, range 13.0-119.0), anti-NMDAR encephalitis patients had better modified Rankin scale scores (median 0.0 vs 3.0, p = 0.023). Relapses occurred equally in both groups. Anti-VGKC encephalitis patients with abnormal acute MRI were more likely to have poor outcomes compared to those with normal imaging (100% vs 25%, p = 0.008), whereas acute imaging features in anti-NMDAR encephalitis did not predict long-term outcomes. CONCLUSIONS: Acute MRI findings can aid in early diagnosis and prognostication in suspected AIE. Leptomeningeal enhancement in anti-NMDAR encephalitis and hippocampal lesions in anti-VGKC encephalitis, together with typical clinical features, may allow distinction between these antibody subtypes, and specific abnormal imaging features in anti-VGKC encephalitis may be used as a prognostic marker.

NOTCH2NLC GGC Repeat Expansions Are Associated with Sporadic Essential Tremor: Variable Disease Expressivity on Long-Term Follow-up.

We screened 662 subjects comprising 462 essential tremor (ET) subjects (285 sporadic, 125 with family history, and 52 probands from well-characterized ET pedigrees) and 200 controls and identified pathogenic NOTCH2NLC GGC repeat expansions in 4 sporadic ET patients. Two patients were followed up for >1 decade; one with 90 repeats remained an ET phenotype that did not evolve after 40 years, whereas another patient with 107 repeats developed motor symptoms and cognitive impairment after 8 to 10 years. Neuroimaging in this patient revealed severe leukoencephalopathy; diffusion-weighted imaging hyperintensity in the corticomedullary junction and skin biopsy revealed intranuclear inclusions suggestive of intranuclear inclusion body disease (NIID). No GGC repeats of >60 units were detected in familial ET cases and controls, although 4 ET patients carried 47 to 53 "intermediate" repeats. NOTCH2NLC GGC repeat expansions can be associated with sporadic ET. Carriers presenting with a pure ET phenotype may or may not convert to NIID up to 4 decades after initial tremor onset. ANN NEUROL 2020;88:614-618.

Comparison of machine learning classifiers for differentiation of grade 1 from higher gradings in meningioma: A multicenter radiomics study.

BACKGROUND AND PURPOSE: Advanced imaging analysis for the prediction of tumor biology and modelling of clinically relevant parameters using computed imaging features is part of the emerging field of radiomics research. Here we test the hypothesis that a machine learning approach can distinguish grade 1 from higher gradings in meningioma patients using radiomics features derived from a heterogenous multicenter dataset of multi-paramedic MRI. METHODS: A total of 138 patients from 5 international centers that underwent MRI prior to surgical resection of intracranial meningiomas were included. Segmentation was performed manually on co-registered multi-parametric MR images using apparent diffusion coefficient (ADC) maps, T1-weighted (T1), post-contrast T1-weighted (T1c), subtraction maps (Sub, T1c - T1), T2-weighted fluid-attenuated inversion recovery (FLAIR) and T2-weighted (T2) images. Feature selection was performed and using cross-validation to separate training from testing data, four machine learning classifiers were scored on combinations of MRI modalities: random forest (RF), extreme gradient boosting (XGBoost), support vector machine (SVM) and multilayer perceptron (MLP). RESULTS: The best AUC of 0.97 (1.0 and 0.97 for sensitivity and specificity) was observed for the combination of ADC, ADC of the peritumoral edema, T1, T1c, Sub and FLAIR-derived features using only 16 of the 10,914 possible features and XGBoost. CONCLUSIONS: Machine learning using radiomics features derived from multi-parametric MRI is capable of high AUC scores with high sensitivity and specificity in classifying meningiomas between low and higher gradings despite heterogeneous protocols across different centers. Feature selection can be performed effectively even when extracting a large amount of data for radiomics fingerprinting.

Histogram Analysis Parameters Apparent Diffusion Coefficient for Distinguishing High and Low-Grade Meningiomas: A Multicenter Study.

Low grade meningiomas have better prognosis than high grade meningiomas. The aim of this study was to measure apparent diffusion coefficient (ADC) histogram analysis parameters in different meningiomas in a large multicenter sample and to analyze the possibility of several parameters for predicting tumor grade and proliferation potential. Overall, 148 meningiomas from 7 institutions were evaluated in this retrospective study. Grade 1 lesions were diagnosed in 101 (68.2%) cases, grade 2 in 41 (27.7%) patients, and grade 3 in 6 (4.1%) patients. All tumors were investigated by MRI (1.5 T scanner) by using diffusion weighted imaging (b values of 0 and 1000 s/mm2). For every lesion, the following parameters were calculated: mean ADC, maximum ADC, minimum ADC, median ADC, mode ADC, ADC percentiles P10, P25, P75, P90, kurtosis, skewness, and entropy. The comparison of ADC values was performed by Mann-Whitney-U test. Correlation between different ADC parameters and KI 67 was calculated by Spearman's rank correlation coefficient. Grade 2/3 meningiomas showed statistically significant lower ADC histogram analysis parameters in comparison to grade 1 tumors, especially ADC median. A threshold value of 0.82 for ADC median to predict tumor grade was estimated (sensitivity = 82.2%, specificity = 63.8%, accuracy = 76.4%, positive and negative predictive values were 83% and 62.5%, respectively). All ADC parameters except maximum ADC showed weak significant correlations with KI 67, especially ADC P25 (P = -.340, P = .0001).

MRI in spinal cord decompression sickness.

INTRODUCTION: Spinal cord decompression sickness (DCS) is a rare condition that can lead to spinal cord infarction. Despite the low incidence of diving-related DCS, we have managed to collect the data and MRI findings of seven patients who have been diagnosed with and treated for DCS in our local hyperbaric facility. This study describes the clinical presentation, MRI spinal cord findings, treatment administered and outcome of these patients. METHODS: The patient medical records, from 1997 to 2007, were retrospectively reviewed. All patients with a final diagnosis of DCS and who underwent examination were included. The images were independently reviewed by two radiologists who recorded the location and number of lesions within the spinal cord. The Frankel grading was used to assess the initial and clinical outcome response. RESULTS: Patchy-increased T2W changes affecting several levels at the same time were found. Contrary to the popular notion that venous infarction is the leading cause of DCS, most of our patients also demonstrated affliction of grey matter, which is typically seen in an arterial pattern of infarction. Initial involvement of multiple (>6) spinal cord levels was associated with a poor outcome. Patients who continued to have multiple neurological sequelae with less than 50% resolution of symptoms despite recompression treatment were also those who had onset of symptoms within 30 min of resurfacing. CONCLUSIONS: DCS is probably a combination of both arterial and venous infarction. Short latency to the onset of neurological symptoms and multilevel cord involvement may be associated with a poorer outcome.

Aquaporin-4 expression is increased in edematous meningiomas.

Peritumoral edema is frequently present in meningiomas and can result in serious morbidity and mortality. The aquaporins (AQPs) are a family of membrane protein water channels with an integral role in water transport and maintenance of fluid balance. AQP4, increased in edematous human brain tumors such as astrocytomas and metastases, is present in the astrocytic foot processes adjacent to endothelial cells and may therefore have a role in cerebral edema formation. The objective of this study is to investigate the expression of AQP4 in meningiomas and to correlate their expression with peritumoral edema. Fresh human meningioma specimens (17) were obtained and immunohistochemical staining and Western blot analysis was performed for AQP4. The peritumoral edema index (EI) was calculated based on MRI post-processed to calculate the tumor and edema volume. Overexpression of AQP4 was associated with significant peritumoral edema. Immunohistochemistry showed upregulation of AQP4 throughout the specimens. Therefore, we conclude that increased expression of AQP4 is associated with peritumoral edema in meningiomas. This suggests that AQP4 overexpression can lead to abnormal water transport and edema formation in meningiomas. The inhibition of AQP4 water channels is a potential therapeutic option to reduce the adverse effects of peritumoral edema in meningiomas.

Targeting regions with highest lipid content on MR spectroscopy may improve diagnostic yield in stereotactic biopsy.

Gliomas are heterogeneous brain tumors and prognosis and treatment are dependent on the highest histological grade present. Stereotactic biopsy is associated with an inherent risk of sampling error. Magnetic resonance spectroscopy (MRS) uses clinical MR scanners to provide chemical in addition to conventional information. MRS studies in brain tumors have found increased levels of choline-containing compounds (Cho) and decreased levels of N-acetylaspartate (NAA), creatine (Cr) and phosphocreatine (PCr) which are all associated with increased grade of glioma. We propose the use of MRS-guided stereotactic biopsy of astrocytomas to increase diagnostic yield and reduce the sampling error rate. MRS was performed on two patients undergoing stereotactic biopsy for suspected astrocytoma. Spectral peak heights of the metabolites Cho at 3.2 parts per million (ppm) chemical shift, NAA at 2.0 ppm and lipid (Lip) at 1.2 ppm, were measured. Biopsy targets were selected from the voxels with the highest Cho/NAA and normalised against Cho levels in the contralateral normal tissue, as well as those with highest lipid content. The biopsies were taken and tissue diagnosis was obtained via standard histological techniques. Histological grade was found to be different in one case: the region with a high Lip/Cr and Cho/NAA ratios showed glioblastoma, whereas the region with high Cho/NAA but low Lip/Cr ratios showed anaplastic astrocytoma. The second patient had high Cho/NAA ratio but low Lip/Cr ratio in both targets and the histology revealed anaplastic astrocytoma in both samples. MRS is a useful biomedical imaging tool for diagnosing and grading astrocytomas. Targeting regions with highest lipid content can potentially improve the diagnostic yield and minimize sampling error in stereotactic biopsy.

Pleomorphic xanthoastrocytoma in elderly patients may portend a poor prognosis.

Pleomorphic xanthoastrocytoma (PXA) is a rare primary astrocytic tumour of the nervous system usually involving the superficial temporal cortex of children and young adults. Although the tumour may exhibit histological features of pleomorphism or cellular atypia, the overall prognosis is good compared with other glial tumours, with only 30% of PXA recurring and 20% undergoing anaplastic transformation. Increased mitotic activity, high MIB-1 and proliferating cell nuclear antigen labelling indices and necrosis are poor prognostic factors, whereas abundant lymphocytic infiltration is associated with more benign biological behaviour. Rarely, in older patients, PXA may have a poor prognosis as these patients tend to have intracranial hypertension and focal deficits, as well as histological features of mitosis, increased cellularity and necrosis. We report the case of a 76-year-old woman who presented with dysphasia and right hemiparesis. A left fronto-temporal lobe PXA was misdiagnosed as glioblastoma multiforme. Although a rare and benign tumour type, PXA in the elderly tend to be more malignant, may have the radiological appearance of a malignant tumour and have poor prognosis.

Disseminated spread of recurrent oligodendroglioma (WHO grade II).

Oligodendroglioma is a relatively uncommon primary brain tumour. The occurrence of metastatic dissemination of oligodendroglioma is rare and usually occurs in patients with anaplastic oligodendroglioma. The dissemination of WHO Grade II oligodendroglioma can occur and we report a patient with an initial diagnosis of a left temporal oligodendroglioma who presented with disseminated disease in the left temporal lobe, sellar region, medulla oblongata, both frontal lobes and ventricles more than 8 years later. Histology at dissemination showed anaplastic oligodendroglioma. Similar reports of metastatic dissemination of oligodendrogliomas reveal that the tumours may remain as WHO Grade II or may progress to anaplastic oligodendroglioma at metastasis. However, regardless of the histological grade at metastasis, the prognosis of metastatic oligodendroglioma is poor.