[Sporadic Creutzfeldt-Jakob Disease With Slow Progression:Report of One Case].

Sporadic Creutzfeldt-Jakob disease(sCJD)is a prion-caused degenerative disease of the central nervous system,with the typical clinical manifestation of rapidly progressive dementia.The course of disease is less than 1 year in most patients and more than 2 years in only 2% to 3% patients.We reported a case of sCJD with expressive language disorder and slow progression in this paper.By summarizing the clinical manifestations and the electroencephalograhpy,MRI,and pathological features,we aimed to enrich the knowledge about the sCJD with slow progression.

Primary papillary epithelial tumor of the sella and posterior pituitary tumor show similar (epi)genetic features and constitute a single neuro-oncological entity.

BACKGROUND: "Primary papillary epithelial tumor of the sella (PPETS)" is a recently described rare tumor entity of the central nervous system (CNS) with stereotypic location in the sella. Comprehensive molecular investigations and epigenetic profiles of PPETS have not been performed to date. METHODS: We report a comprehensive clinical, histopathologic, and molecular assessment of 5 PPETS cases in comparison with a cohort composed of 7 choroid plexus papilloma (CPP), 7 central neurocytoma (CN), 15 posterior pituitary tumor (PPT) including 4 pituicytoma, 6 granular cell tumors of the sellar region (GCT), and 5 spindle cell oncocytoma. RESULTS: All PPETS had good outcomes. Immunohistochemically, PPETS tumors showed positive staining with TTF1, EMA, AE1/AE3, MAP2, and Vimentin, but were negatively stained with Syn, GFAP, CgA, and S100, and sporadically stained with Ki-67. In unsupervised hierarchical clustering and t-distributed stochastic neighbor embedding analyses of DNA-methylation data, PPETS and PPT tumors formed a distinct cluster irrespective of their histologic types. However, PPETS tumors did not cluster together with CPP and CN samples. Similar findings were obtained when our samples were projected into the reference cohort of the brain tumor classifier. Substantial fractions of the PPETS and PPT tumors shared broadly similar chromosomal copy number alterations. No mutations were detected using targeted next-generation sequencing. CONCLUSIONS: Though more cases are needed to further elucidate the molecular pathogenesis of these tumors, our findings indicate that PPETS and PPT tumors may constitute a single neurooncological entity.

Histone H3.3 G34-mutant Diffuse Gliomas in Adults.

The characteristics of H3.3 G34-mutant gliomas in adults have yet to be specifically described. Thirty adults with H3.3 G34-mutant diffuse gliomas were retrospectively reviewed for clinical and pathologic information. Molecular profiling using next-generation sequencing was performed in 29 of the 30 H3.3 G34-mutant patients with 1 patient lacking available tumor samples, as well as 82 IDH/H3 wild-type adult diffuse glioma patients. The age at diagnosis of H3.3 G34-mutant diffuse gliomas was significantly younger than IDH/H3 wild-type gliomas (24 vs. 57 y, P<0.001). Overall, 19 of the 30 patients were diagnosed of glioblastoma with the primitive neuronal component, and 8 were glioblastoma. The molecular profiling analysis revealed higher frequencies of Olig-2 loss of expression, TP53 mutation, ATRX mutation, PDGFRA mutation, and MGMT promoter methylation (P<0.05) in H3.3 G34-mutant gliomas than IDH/H3 wild-type gliomas. No TERT promoter mutation and only 1 case of EGFR amplification were detected in the H3.3 G34-mutant cohort, the frequencies of which were significantly higher in the IDH/H3 wild-type cohort. A dismal prognosis was observed in H3.3 G34-mutant patients comparing to IDH/H3 wild-type cohort (overall survival: 14 vs. 22 mo; P=0.026). Univariate and multivariate analyses showed that the extent of resection and TP53 mutation were independently affecting prognosis. The distinct pathologic and molecular features of H3.3 G34-mutant diffuse gliomas in adult patients demonstrated the clinical importance of detecting H3.3 G34R/V mutations. The dismal prognosis of this rare high-grade glioma disease we reported here would further promote the investigation of dedicated therapeutic strategies.

Pro-inflammatory and proliferative microglia drive progression of glioblastoma.

Scant understanding of the glioblastoma microenvironment and molecular bases hampers development of efficient treatment strategies. Analyses of gene signatures of human gliomas demonstrate that the SETD2 mutation is correlated with poor prognosis of IDH1/2 wild-type (IDH-WT) adult glioblastoma patients. To better understand the crosstalk between SETD2 mutant (SETD2-mut) glioblastoma cells and the tumor microenvironment, we leverage single-cell transcriptomics to comprehensively map cellular populations in glioblastoma. In this study, we identify a specific subtype of high-grade glioma-associated microglia (HGG-AM). Further analysis shows that transforming growth factor (TGF)-ß1 derived from SETD2-mut/IDH-WT tumor cells activates HGG-AM, exhibiting pro-inflammation and proliferation signatures. Particularly, HGG-AM secretes interleukin (IL)-1ß via the apolipoprotein E (ApoE)-mediated NLRP1 inflammasome, thereby promoting tumor progression. HGG-AM present extensive proliferation and infiltration to supplement the activated microglia pool. Notably, TGF-ß1/TßRI depletion dramatically reduces HGG-AM density and suppresses tumor growth. Altogether, our studies identify a specific microglia subpopulation and establish the cellular basis of interactions between HGG-AM and glioblastoma cells.

Metagenomic Next-Generation Sequencing of Cerebrospinal Fluid for the Diagnosis of Cerebral Aspergillosis.

Purpose: Cerebral aspergillosis (CA) is a rare but often fatal, difficult-to-diagnose, opportunistic infection. The utility of metagenomic next-generation sequencing (mNGS) for diagnosis of CA is unclear. We evaluated the usefulness of mNGS of the cerebrospinal fluid (CSF) for the diagnosis of CA. Methods: This prospective study involved seven consecutive patients with confirmed CA in whom CSF mNGS was performed. Serum (1→3)-ß-D-glucan and galactomannan levels were determined, and histopathological examination and mNGS of the CSF were conducted. CSF specimens from three non-infected patients were used as positive controls. Results: mNGS of the CSF was positive in six of the seven confirmed CA cases (85.71% sensitivity). In the cryptococcal meningitis group (control), mNGS of the CSF was positive for Aspergillus in two patients (84.62% specificity). The positive likelihood ratio, negative likelihood ratio, and Youden's index of mNGS for CA in the CSF were 5.565, 0.169, and 0.7, respectively. Among the six mNGS-positive cases, more than two Aspergillus species were found in four (4/6, 66.67%). In the positive controls, the addition of one A. fumigatus spore yielded a standardised species-specific read number (SDSSRN) of 25.45 by mNGS; the detection rate would be 0.98 if SDSSRN was 2. Conclusion: mNGS facilitates the diagnosis of CA and may reduce the need for cerebral biopsy in patients with suspected CA. Trial Registration Number: Chinese Clinical Trial Registry, ChiCTR1800020442.

Clinical characteristics, treatment and prognosis of angiocentric glioma.

Angiocentric glioma (AG) is a rare subtype of neuroepithelial tumor in children and young adults that commonly presents with seizures. To study the clinical characteristics, treatment and prognosis of patients with AG, the features of two cases of AG were described and 108 cases reported in the literature were assessed. The cases of the present study were two males aged 8 and 16 years, who mainly presented with seizures. MRI revealed superficial, non-enhanced lesions in the left temporal and right frontal lobe, respectively. The two patients underwent gross total resection (GTR) and remained seizure-free without neurological deficits after 3.5 and 2.5 years, respectively. Histopathological examination revealed that the tumors consisted of monomorphous cells that surrounded the blood vessels and neurons in the cerebral cortex, and formed concentric sleeves or pseudorosettes. Furthermore, immunostaining indicated that the diffuse infiltrative neoplastic cells were positive for glial fibrillary acidic protein and a dot-like pattern of epithelial membrane antigen was observed. AG mostly appeared similar to low-grade gliomas on MRI. GTR of the lesions was curative and radiation or chemotherapy were not required. AG typically has a favorable prognosis, with low mortality and incidence of disability.

Isolated lymphomatoid granulomatosis of the central nervous system: A case report and literature review.

Lymphomatoid granulomatosis (LYG) is an angiocentric and angiodestructive lymphoproliferative disease which can involve multiple organs of the body and is most common in the lungs. Its pathological features are proliferation of large atypical B-cells related to Epstein-Barr virus, T-cell infiltration and tissue necrosis. This disease is rare, and LYG which uniquely involves the central nervous system (CNS) is extremely rare. In this paper, we report a case of isolated lymphomatoid granulomatosis of the CNS (iCNS-LYG) diagnosed by histological biopsy and we review the clinical features of all similar cases reported in the past 46 years. A total of 49 cases of iCNS-LYG have been reported to date. The clinical, imaging and pathological features of iCNS-LYG are discussed in combination with a literature review.

Diffuse Leptomeningeal Glioneuronal Tumor Presented with Language Developmental Delay.

Diffuse leptomeningeal glioneuronal tumor (DLGNT) is a new central nervous system tumor defined by the WHO in 2016 characterized mainly by hydrocephalus, headache, and epilepsy. We reported the case of a patient diagnosed with DLGNT who presented with language developmental delay and positive but subtle changes in imaging two years before the emergence of typical clinical symptoms. Few studies were conducted on early tumor symptoms due to the limited number of cases. We hypothesized that with the existence of pre-tumor symptoms, language developmental delay may be related to tumor.

A distinct clinicopathological variant of focal cortical dysplasia IIId characterized by loss of layer 4 in the occipital lobe in 12 children with remote hypoxic-ischemic injury.

OBJECTIVE: In 2011, the International League Against Epilepsy (ILAE) proposed a consensus classification system of focal cortical dysplasia (FCD) to distinguish clinicopathological subtypes, for example, "isolated" FCD type Ia-c and IIa-b, versus "associated" FCD type IIIa-d. The histopathological differentiation of FCD type I and III variants remains, however, a challenging issue in everyday practice. We present a unique histopathological pattern in patients with difficult-to-diagnose FCD, which highlights this dilemma, but also helps to refine the current ILAE classification scheme of FCD. METHODS: We present a retrospective series of 11 male and one female patient with early onset pharmacoresistant epilepsy of the posterior quadrant (mean age at seizure onset = 4.6 years). All surgical specimens were reviewed. Clinical histories were retrieved and extracted from archival patient files. RESULTS: Microscopic inspection revealed abnormalities in cortical architecture with complete loss of layer 4 in all surgical samples of the occipital lobe, as confirmed by semiquantitative measurements (p < 0.01). Clinical history reported early transient hypoxic condition in nine patients (75%). Magnetic resonance imaging (MRI) revealed abnormal signals in the occipital lobe in all patients, and signal changes suggestive of subcortical encephalomalacia were found in seven patients. Surgical treatment achieved favorable seizure control (Engel class I and II) in seven patients with an available follow-up period of 6.1 years. SIGNIFICANCE: Prominent disorganization of cortical layering and lack of any other microscopically visible principle lesion in the surgical specimen would result in this neuropathological pattern hitherto being classified as FCD ILAE type Ib. However, perinatal hypoxia with distinctive MRI changes suggested primarily a hypoxemic lesion and acquired pathomechanism of neuronal cell loss in the occipital lobe of our patient series. We propose, therefore, classifying this distinctive clinicopathological pattern as a separate variant of FCD ILAE type IIId.

The diagnostic value of high-frequency power-based diffusion-weighted imaging in prediction of neuroepithelial tumour grading.

OBJECTIVES: To retrospectively evaluate the diagnostic value of high-frequency power (HFP) compared with the minimum apparent diffusion coefficient (MinADC) in the prediction of neuroepithelial tumour grading. METHODS: Diffusion-weighted imaging (DWI) data were acquired on 115 patients by a 3.0-T MRI system, which included b0 images and b1000 images over the whole brain in each patient. The HFP values and MinADC values were calculated by an in-house script written on the MATLAB platform. RESULTS: There was a significant difference among each group excluding grade I (G1) vs. grade II (G2) (P = 0.309) for HFP and among each group for MinADC. ROC analysis showed a higher discriminative accuracy between low-grade glioma (LGG) and high-grade glioma (HGG) for HFP with area under the curve (AUC) value 1 compared with that for MinADC with AUC 0.83 ± 0.04 and also demonstrated a higher discriminative ability among the G1-grade IV (G4) group for HFP compared with that for MinADC except G1 vs. G2. CONCLUSIONS: HFP could provide a simple and effective optimal tool for the prediction of neuroepithelial tumour grading based on diffusion-weighted images in routine clinical practice. KEY POINTS: • HFP shows positive correlation with neuroepithelial tumour grading. • HFP presents a good diagnostic efficacy for LGG and HGG. • HFP is helpful in the selection of brain tumour boundary.

Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS): A lymphocytic reactive response of the central nervous system? A case report.

Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroid (CLIPPERS) was first described in 2010. The characteristic clinical picture, radiological distribution and steroid response have been well-described in previous reports. However, the underlying pathogenesis and nosological position of CLIPPERS in the CNS require further investigation for the primary CNS lymphoma have been identified by autopsy subsequently. Here, we report a 51-year-old woman who was diagnosed with CLIPPERS but progressed to primary CNS lymphomatoid granulomatosis, which supports that CLIPPERS is not just an inflammatory CNS disorder.

Optimizing the Extent of Resection and Minimizing the Morbidity in Insular High-Grade Glioma Surgery by High-Field Intraoperative MRI Guidance.

AIM: The result of surgical resection for insular high-grade glioma (HGG) is disappointing due to the complex anatomy of insula and aggressive growth of HGG. The use of intraoperative magnetic resonance imaging (iMRI) was reported to improve the results of glioma surgery. The authors aimed to evaluate the impact of high-field iMRI and functional neuronavigation on the surgical resection of insular HGG. MATERIAL AND METHODS: Between July 2010 and July 2014, 51 insular HGG patients underwent operations guided by combined high-field iMRI and functional neuronavigation. Twenty-two insular HGG patients underwent conventional neuronavigation operations were assessed as the control group. Preoperative and postoperative tumor volumetric scan analysis, Karnofsky performance score (KPS) and follow-up results were reviewed retrospectively. RESULTS: Residual tumor was detected by the iMRI in 42 patients, and residual tumor of 37 patients was further resected in the iMRI-assisted group. The median extent of resection (EOR) increased significantly from 79% (58%?100%) to [96% (86%? 100%), p < 0.001]. The median EOR of iMRI-assisted group [96% (86%?100%)] was significantly higher than that of conventional neuronavigation group [84% (69%?100%); p=0.031]. Mean residual tumor volume of iMRI-assisted group [0.6 (0.0-5.2) cm3] was significantly smaller than that of conventional neuronavigation group [3.8 (0.0-12.1) cm3; p=0.003]. KPS within 3 days after surgery reduced and KPS at 3 months after surgery improved for both groups. KPS of iMRI-assisted group [90(70-100)] was significantly higher than that of control group [80(60-100); p=0.021] at 3 months after surgery. The median progression-free survival (PFS) of iMRI-assisted group [18(9-42) months] was better than that of control group [15(3-32) months; p=0.010]. The median overall survival (OS) of iMRI-assisted group [28(14-49) months] was better than that of control group [18 (7-38) months; p=0.035]. CONCLUSION: Combined high-field iMRI and functional neuronavigation optimize the extent of resection and minimize the morbidity in insular HGG surgery. Aggressive resection of insular HGG is predictive of improved OS and PFS.

Intracranial malignant melanoma: A report of 7 cases.

The aim of the present study was to investigate the clinical diagnosis and treatment of intracranial malignant melanoma. For this purpose, the clinical manifestation, signs, cerebrospinal fluid (CSF) contents, imageology, pathological features, treatment and prognosis of 7 cases of intracranial malignant melanoma were analyzed in The Chinese PLA General Hospital (Beijing, China) from 1996 to 2013. All the melanoma cases were confirmed by histopathology, and CSF cytopathology demonstrated that there were 5 cases of primary malignant melanoma and 2 cases of secondary malignant melanoma. Among the patients, 4 presented with >1 pigmented nevus in the skin, and 1 presented with skin melanoma. Intracranial malignant melanoma mostly affects middle-aged males. CSF cytopathology and imageology (particularly enhanced magnetic resonance), are important tools in the diagnosis of the disease. Particularly, when a patient presents with a pigmented nevus in the skin and an abnormal lesion in the brain, a diagnosis of intracranial malignant melanoma should be considered.

[Histopathological and immunohistochemical study of spinal cord tissues in neurodegenerative diseases].

OBJECTIVE: To investigate histopathology and proteinopathy in the spinal cord of patients with common neurodegenerative diseases. METHODS: Spinal cord tissues from clinically and neuropathologically confirmed neruodegnerative diseases were enrolled in this study, including 3 cases of multiple system strophy, 4 cases of amyotrophic lateral sclerosis, 5 cases of Alzheimer's disease (AD, included 2 cases of AD combined with Parkinson's disease), 2 cases of progressive supranuclear palsy, 1 case of dementia with lewy body and 1 case of corticobasal degeneration from 1955 to 2013 at Chinese People's Liberation Army General Hospital. Four normal control cases were also included. Routine HE and Gallyas-Braak staining, and immunohistochemical stainings for anti-PHF tau (AT8), anti-α-synuclein, anti-TDP-43 and anti-ubiquitin were performed. RESULTS: Examination of the spinal cord in 3 cases with multiple system strophy revealed severe neuron loss in the intermediolateral nucleus of thoracic segment and Onuf's nucleus of the sacral segment, along with moderate neuron loss in the anterior horn of the cervical segment and mild myelin pallor in the anterior funiculus and anterolateral funiculus in the cervical and thoracic segments. Large amount of argentophilic, ubiquitin and synuclein positive oligodendroglial cytoplasmic inclusions were found widely distributed in the anterior horn and the anterior funiculus and anterolateral funiculus of the full spinal cord. Severe neuron loss and several morphological changes with gliosis in the anterior horn and severe loss of myelin in the anterior funiculus and anterolateral funiculus of the full spinal cord were observed in 4 cases of amyotrophic lateral sclerosis, 2 of which were found with Bunina bodies in neurons of the anterior horn. Three amyotrophic lateral sclerosis cases had ubiquitin-positive neuronal inclusions and TDP-43 positive neuronal and glial inclusions in the anterior horn at cervical and lumbar segments. A few argentophilic, tau positive neurofibrillary tangles (NFTs) and neuropil threads in the anterior horn at cervical and lumbar segments were found in 4 AD cases. Examination of spinal cord in 2 cases with Parkinson's disease combined with AD and 1 case with dementia with lewy body revealed severe neuron loss in the intermediolateral nucleus of thoracic segment, and a few synuclein positive lewy bodies and neuritis were also observed. There was mild neuron loss in the anterior horn at cervical and lumbar segments, along with some argentophilic, tau positive globous NFTs and many argentophilic, tau positive neutrophil threads were observed in 2 progressive supranuclear palsy cases and 1 corticobasal degeneration case. CONCLUSION: Each common neurodegenerative diseases of the spinal cord including multiple system strophy, amyotrophic lateral sclerosis and Parkinson's disease has its own specific histopathology and proteinopathy characteristics.

[Meningioangiomatosis: a clinicopathological study of five cases].

OBJECTIVE: To investigate the clinicopathologic characteristics of meningioangiomatosis (MA). METHODS: Five cases of MA were evaluated morphologically by HE and immunohistochemistry on formalin-fixed paraffin-embedded tissue. Clinical information was also obtained. The literature was reviewed. The clinical pathology and biological behavior of MA were discussed. RESULTS: Five cases of MA were reported, arising in three males and two females, with an age range of 16 to 26 years at diagnosis. All five subjects had intractable seizure disorders, and the duration of illness ranged from 8 months to 18 years. The lesions were resected from the frontal lobe in four patients, and from the temporal lobe in one. All the lesions were confined to the cortex, firm in consistency, without capsules and had poor blood supply. There was focal involvement of the overlying leptomeninges. Microscopically, they showed characteristic features of MA, such as proliferating microvessels with perivascular cuffs of spindle-cell within the cortex. Some had numerous calcifications, others showed acidophilic granular bodies. The cells were positive for EMA and vimentin by immunohistochemistry, and for reticulin by histochemical staining. CONCLUSIONS: MA is a rare, benign hamartomatous lesion of the central nervous system. It usually presents as plaque-like or nodular mass in the cerebral cortex and the overlying leptomeninges, consisting of meningovascular proliferation and leptomeningeal calcification. In some cases the lesion may show perivascular proliferation of elongated spindle-shaped cells. MA usually affects children and young adults, and is located in the frontal or temporal lobes with variable involvement of the overlying leptomeninges. Clinically, most of sporadic cases have a long history of intractable seizures despite multiantiepileptic drugs. MA has also been reported to coexist with arteriovenous malformations,meningiomas and other tumorous lesions.

Astrocytic tumour grading: a comparative study of three-dimensional pseudocontinuous arterial spin labelling, dynamic susceptibility contrast-enhanced perfusion-weighted imaging, and diffusion-weighted imaging.

OBJECTIVES: We hypothesized that three-dimensional pseudocontinuous arterial spin labelling (pCASL) may have similar efficacy in astrocytic tumour grading as dynamic susceptibility contrast-enhanced perfusion-weighted imaging (DSC-PWI), and the grading accuracy may be further improved when combined with apparent diffusion coefficient (ADC) values. METHODS: Forty-three patients with astrocytic tumours were studied using diffusion weighted imaging (DWI), pCASL, and DSC-PWI. Histograms of ADC and normalized tumour cerebral blood flow values (nCBF on pCASL and nrCBF on DSC-PWI) were measured and analyzed. RESULTS: The mean 10 % ADC value was the DWI parameter that provided the best differentiation between low-grade astrocytoma (LGA) and high-grade astrocytoma (HGA). The nCBF and nrCBF (1.810 ± 0.979 and 2.070 ± 1.048) in LGA were significantly lower than those (4.505 ± 2.270 and 5.922 ± 2.630) in HGA. For differentiation between LGA and HGA, the cutoff values of 0.764 × 10(-3) mm(2)/s for mean 10 % ADC, 2.374 for nCBF, and 3.464 for nrCBF provided the optimal accuracy (74.4 %, 86.1 %, and 88.6 %, respectively). Combining the ADC values with nCBF or nrCBF could further improve the grading accuracy to 97.7 % or 95.3 %, respectively. CONCLUSIONS: pCASL is an alternative to DSC-PWI for astrocytic tumour grading. The combination of DWI and contrast-free pCASL offers a valuable choice in patients with risk factors. KEY POINTS: • pCASL shows positive correlation with DSC-PWI in astrocytic tumour grading. • ADC values based on ADC histograms can be an objective method. • Combination of DWI and pCASL or DSC-PWI can improve grading accuracy.

[The pathological TDP-43 protein expression in the central nervous system of motor neuron disease].

OBJECTIVE: To understand pathological TDP-43 features in the central nervous systems of patients with clinically and autopsy confirmed motor neuron disease (MND). METHODS: The clinical and histopathological features of 4 cases with MND confirmed by autopsy were summarized; anti-ubiquitin (Ub) and anti-TDP-43 immunohistochemical staining were carried out on tissue of brains and spinal cords from 4 cases with MND and 3 control cases without history of neurological disorders. RESULTS: These 4 cases presented with typical clinical and histologic features of MND. Ub-positive inclusions were observed in brain and spinal cord from 3 cases with the Ub-positive inclusions of skein- round- and lewy body- like structures. Strong TDP-43 pathological staining in brain and spinal cord was identified in 2 cases with MND presented as neuronal and glial cytoplasmic inclusions with various shapes. The TDP-43 positive inclusions were widely distributed in the motor cortex of brain and the anterior horn of spinal cord. TDP-43 weak staining in the spinal cord tissue was observed in 1 case with MND. No Ub- and TDP-43 positive inclusions were found in 3 control cases. CONCLUSION: There is widespread pathological TDP-43 expression in the central nervous system of MND. TDP-43 positive inclusions in MND have relatively high specificity. It is worth further study on their formation mechanism.

Multimodal treatment and management strategies for intracranial hemangiopericytoma.

Intracranial hemangiopericytoma (HPC) is a rare malignant meningothelial tumor. The authors retrospectively reviewed the long-term clinical outcomes of patients with HPC with regard to treatment modalities and histopathological grades. Eighteen women and 20 men (mean age 38.5 years, range, 18-62 years) were observed over an average follow-up period of 61 months (range, 15-133 months) between 2003 and 2013. The initial treatment modalities included total tumor resection followed by conventional radiotherapy (RT) (n=27), and subtotal tumor resection followed by stereotactic radiosurgery (n=11). One patient (3%) had permanent neurological deficits, and six patients (16%) died. Thirteen patients (34%) suffered recurrence. One year, 5 year, and 10 year recurrence-free survival rates were 100%, 70%, and 39%, respectively. Five patients (13%) developed metastasis. One year, 5 year, and 10 year metastasis-free survival rates were 100%, 89%, 74%, respectively. Low grade tumors were associated with longer overall survival, recurrence-free interval and metastasis-free interval (log-rank, p<0.05). Radical resection with RT was associated with longer overall survival and recurrence-free interval (log-rank, p<0.05), but had no effect on the metastasis-free interval (log-rank, p=0.245). Thus, radical surgery followed by adjuvant RT is the primary treatment of HPC, but recurrence and metastasis remain a common treatment outcome regardless of initial strategy. It is necessary to maintain long-term follow-up and serial imaging for all patients with intracranial HPC after treatment, regardless of extent of resection.

Sturge-Weber Syndrome Is Associated with Cortical Dysplasia ILAE Type IIIc and Excessive Hypertrophic Pyramidal Neurons in Brain Resections for Intractable Epilepsy.

Sturge-Weber syndrome (SWS) is a rare syndrome characterized by capillary-venous malformations involving skin and brain. Many patients with SWS also suffer from drug-resistant epilepsy. We retrospectively studied a series of six SWS patients with epilepsy and extensive neurosurgical resections. At time of surgery, the patients' age ranged from 11 to 35 years (with a mean of 20.2 years). All surgical specimens were well preserved, which allowed a systematic microscopical inspection utilizing the 2011 ILAE classification for focal cortical dysplasia (FCD). Neuropathology revealed dysmorphic-like neurons with hypertrophic cell bodies reminiscent to those described for FCD type IIa in all cases. However, gross architectural abnormalities of neocortical layering typical for FCD type IIa were missing, and we propose to classify this pattern as FCD ILAE type IIIc. In addition, our patients with earliest seizure onset also showed polymicrogyria (PMG; n = 4). The ictal onset zones were identified in all patients by subdural electrodes, and these areas always showed histopathological evidence for FCD type IIIc. Four out of five patients had favorable seizure control after surgery with a mean follow-up period of 1.7 years. We concluded from our study that FCD type IIIc and PMG are frequently associated findings in SWS. FCD type IIIc may play a major epileptogenic role in SWS and complete resection of the associated FCD should be considered a prognostic key factor to achieve seizure control.

Clinical and radiological characteristics of 17 Chinese patients with pathology confirmed tumefactive demyelinating diseases: follow-up study.

Tumefactive demyelinating disease is a rare inflammatory demyelinating disease (IDD) of the central nervous system (CNS). The literature lacks a clear and consistent description of the clinical and radiological spectrum of this disorder, and few Chinese cases have been studied. Here we report 17 Chinese patients, with pathology confirmed CNS IDD, who had distinct clinical and imaging features from those in previous reports. Median age at onset was 47 years, with a female to male ratio of 1.1:1. Multifocal lesions were present in nine cases (53%) on their pre-biopsy magnetic resonance imagings (MRIs), with locations predominantly involving periventricular white matter (41%), subcortical white matter (41%), juxtacortical regions (41%), and cortical gray matter (35%). Moderate to severe perilesional edema and/or mass effect were present in 35% of cases. A variety of enhancement patterns were observed; most were heterogeneous, including ring-like, patchy, venular-like, nodular, punctate, and diffuse in a decreased frequency. Perilesional restriction on diffusion-weighted images (DWI) were evident in 70% cases. Clinical course prior to biopsy was a first neurological event in 82% cases. During a median follow-up of 4.1 years, 76% of cases remained as isolated demyelinating syndrome, and 70% experienced a total or near-total recovery regardless of whether they received immunotherapy. Further studies are needed, especially concerning series with pathological confirmation and long-term follow-up information.