Long-term epilepsy-associated tumors (LEATs) include a series of neoplasms that commonly occur in children, adolescents, or young adults, have an astrocytic or glioneuronal lineage, are ...histologically benign (WHO grade1) with a neocortical localization predominantly situated in the temporal lobes. Clinically, chronic refractory epilepsy is usually the unique symptom. Gangliogliomas (GG) and dysembryoplastic neuroepithelial tumors (DNT) are the most common representative entities besides pilocytic astrocytomas (PA) and angiocentric gliomas (AG). Recent molecular studies have defined new clinicopathological entities, which are recognized by the WHO 2021 classification of brain tumors. Some of them such as diffuse astrocytoma
or
altered, polymorphous low-grade neuroepithelial tumor of the young (PLNTY), and multilocular and vacuolating neuronal tumor (MVNT) are currently considered LEATs. The relationship between LEATs and epilepsy is still a matter of debate, and there is a general agreement about the beneficial effects of an early neurosurgical intervention on the clinical outcome.
To investigate hereditary spastic paraplegia (HSP) in a pediatric Brazilian sample.
Epidemiological, clinical, radiological and laboratory data were analyzed in 35 patients.
Simple HSP (HSP-S) was ...detected in 12 patients, and complicated HSP (HSP-C) was detected in 23 patients. The mean age of onset of symptoms was 2.9 years in HSP-S and 1.6 years in HSP-C (p = 0.023). The disease was more severe in HSP-C. There were no differences in sex, ethnic background, or family history between groups. Intellectual disability was the most frequent finding associated with HSP-C. Peripheral axonal neuropathy was found in three patients. In the HSP-C group, MRI was abnormal in 13 patients. The MRI abnormalities included nonspecific white matter lesions, cerebellar atrophy, thinning of the corpus callosum and the "ear of the lynx sign".
In children with spastic paraplegia, HSP must be considered whenever similar pathologies, mainly diplegic cerebral palsy, are ruled out.
We report a case of a 14-year-old girl that presented headache, amaurosis, drowsiness, fever, vomiting and diffuse reduction of muscle strength. She had been diagnosed with ADEM one year before and ...had a previous diagnosis of Toll-Like 3 receptor deficiency. Cerebrospinal fluid analysis revealed pleocytosis (28/mm
, 12/mm
red blood cells, 70% lymphocytes cells, 2% monocytes cells, 28% neutrophils), normal total protein (38 pg/mL) and normal glucose level (53/mm
). Studies for CSF oligoclonal bands and serum anti-MOG were negative but polymerase chain reaction (PCR) testing was positive for herpes virus 1. In the first ADEM episode, PCR for herpes virus was also positive. Magnetic resonance imaging (MRI) of the brain revealed disseminated hyperintense lesions on T2-weighted and FLAIR images in the white matter of frontal, parietal and temporal lobes, corresponding to extensive asymmetric areas of demyelination that produced mass effect and gadolinium enhancement. Electroencephalography demonstrated irregular diffuse and generalized slow-wave activity with predominance in frontal region. The diagnosis of multiphasic disseminated encephalomyelitis (MDEM) triggered by herpes simplex virus was made. Herpes virus is a neurotropic virus that can cause a wide variety of neurological infection-triggered autoimmune disorders and that is particularly damaging to the central nervous system in situations of impaired immune system. TLR3 is expressed in astrocytes and dendritic cells of the central nervous system and is essential for natural immunity to herpes simplex. TLR3-deficient patients have already been described with herpes simplex encephalitis. TLR3 deficiency may predispose and explain autoimmune and demyelinating manifestations induced by herpes virus. The association of multiphasic disseminated encephalomyelitis triggered by herpes virus in a patient with TLR3 deficiency has not been previously reported in the literature.
Neuropathology of yellow fever autopsy cases Frassetto, Fernando Pereira; Rosemberg, Sergio
Tropical diseases, travel medicine and vaccines,
01/2023, Letnik:
9, Številka:
1
Journal Article
Recenzirano
Odprti dostop
Yellow fever is a viral hemorrhagic fever caused by yellow fever virus, a mosquito-borne flavivirus. Despite an effective vaccine, major outbreaks continue to occur around the world. Even though it ...is not a proven neurotropic virus, neurological symptoms in more severe clinical forms are frequent. The understanding of this apparent paradox is still rarely addressed in literature.
The brains of thirty-eight patients with yellow fever confirmed by RT-PCR, who underwent autopsy, were analyzed morphologically to identify and characterize neuropathological changes. The data were compared with brains collected from individuals without the disease, as a control group. Both cases and controls were subdivided according to the presence or absence of co-concurrent septic shock, to exclude changes of the sepsis associated encephalopathy. To verify possible morphological differences between the yellow fever cases groups, between the control groups, and between the cases and the controls, we applied the statistical tests Fisher's exact test and chi-square, with p values < 0.05 considered statistically significant.
All cases and controls presented, at least focally, neuropathological changes, which included edema, meningeal and parenchymal inflammatory infiltrate and hemorrhages, and perivascular inflammatory infiltrate. We did not find an unequivocal aspect of encephalitis. The only parameter that, after statistical analysis, can be attributed to yellow fever was the perivascular inflammatory infiltrate.
The neuropathological findings are sufficient to justify the multiple clinical neurologic disturbances detected in the YF cases. Since most of the parameters evaluated did not show statistically significant difference between cases and controls, an explanation for most of the neuropathological findings may be the vascular changes, consequent to shock induced endotheliopathy, associated with stimulation of the immune system inherent to systemic infectious processes. The statistical difference obtained in yellow fever cases regarding perivascular infiltrate can be can be explained by the immune activation inherent to the condition.
Glioblastoma (GBM), the most frequent and aggressive brain tumor, is characterized by marked angiogenesis directly related to invasiveness and poor prognosis. Hypoxia is considered to be an important ...stimulus for angiogenesis by inducing hypoxia‐inducible factor 1‐alpha (HIF‐1α) overexpression that activates platelet‐derived growth factor (PDGF) and VEGF. The aim of this study is to analyze the expression of PDGF‐C, VEGF in endothelial and tumor cells of GBM and their relation to HIF‐1α expression. Two hundred and eight GBM cases were studied by tissue microarray immunohistochemical preparation. Expression of HIF‐1α, VEGF and PDGF‐C was observed in 184 (88.5%), 131 (63%) and 160 (76.9%) tumor cases, respectively. The numbers of vessels were quantified by CD34, PDGF‐C, VEGF and CD105 staining, and were in median 20, 16, 5 and 6, respectively. The GBMs that showed positive or negative expression for HIF‐1α showed a median vascular density of 30 and 14, respectively, for CD34 (P < 0.015). Positive expression for HIF‐1α was correlated with VEGF and PDGF‐C expression in tumors (P < 0.001). There was a significant correlation between VEGF and PDGF‐C expression in the cytoplasm of GBM tumor cells (P < 0.0001). We showed that VEGF expression in tumor cells was correlated with its expression in blood vessels (P < 0.0001). Endothelial cells with PDGF‐C and VEGF positive expression were also positive for CD105 and their nuclei for Ki‐67, confirming the neoangiogenic and proliferative influence of VEGF and PDGF‐C. VEGF nuclear staining in tumor cells (P = 0.002) as well as nuclear staining for HIF‐1α and VEGF (P = 0.005) correlated with survival. In summary, our present findings of the concomitant upregulation of PDGF‐C with VEGF in GBM tumor cells and vessels further reinforce the benefit of using combined anti‐angiogenic approaches to potentially improve the therapeutic response for GBM.
Angioleiomyomas (ALMs) are relatively rare, benign, vascular soft tissue tumors that occur most frequently in the extremities of middle-aged individuals. To date, only two cases of intracranial ALMs ...have been described, both with little emphasis on the clinical, surgical, and radiological aspects. Neither of these reported cases of ALM involved the cavernous sinus. Furthermore, there is no previous intracranial ALM magnetic resonance imaging scan described in the literature. This report presents the first case of cavernous sinus ALM, emphasizing the clinical, radiological, and surgical aspects.
A 52-year-old man had a 2-year history of horizontal diplopia and frontal headache. Facial numbness and impaired visual acuity in the previous 6 months were also reported. Physical examination revealed paralysis of right Cranial Nerves III, IV, and VI. A decrease in optical acuity was also noted. Computed tomographic and magnetic resonance imaging scans demonstrated a mass lesion located in the right cavernous sinus, which enhanced homogeneously with administration of intravenous contrast medium.
A total resection was performed via a right frontotemporal craniotomy and a pretemporal approach with peeling of the middle fossa. The postoperative course was uneventful. Histological examination identified the ALM, with no recurrence noted during follow-up.
It is unknown why intracranial ALMs have not been reported more frequently in the literature. Although ALMs are a rare occurrence, misinterpretation of this lesion may also have contributed to the lack of reported cases. Before surgery, ALMs can be distinguished from meningiomas and schwannomas but not from hemangiomas. The prognosis of intracranial ALM is good, as suggested in this case as well as the two previously reported cases.
Stereotactic biopsies of brain lesions Teixeira, Manoel Jacobsen; Fonoff, Erich Talamoni; Mandel, Mauricio ...
Arquivos de neuro-psiquiatria,
03/2009, Letnik:
67, Številka:
1
Journal Article
Recenzirano
Odprti dostop
In the majority of cases, the correct treatment of brain lesions is possible only when the histopathological diagnosis is made. Several deep-seated lesions near eloquent areas are not safely ...approached by the classical neurosurgical procedures. These patients can get benefit by a minimally invasive procedure.
We present a series of 176 consecutive patients submitted to stereotactic biopsies due to a great variety of brain lesions.
Histological diagnosis found in this series: glioma in 40.1% of the patients, other neoplasms in 12.2% and infectious or inflammatory diseases in 29.1 %. The result was inconclusive in 5.2% of the procedures. One patient died (0.6%) and two (1.2%) presented operative complications. The criteria, advantages and risks of the stereotactic biopsies are discussed.
The efficacy of the method is adequate and morbid-mortality rates were low.
Abstract White matter lesions (WML) and epilepsy have been occasionally seen in Wilson's disease. No cases of generalized myoclonus have been reported so far. We present a patient with psychiatric ...symptoms starting at age 16, followed by tremor, generalized dystonia and severe generalized myoclonus. In addition to classical findings, the MRI showed also extensive WML in temporal, parietal and frontal regions, preserving interhemispheric fibers. Necropsy revealed marked alterations of white matter, cortex and basal ganglia. We subsequently review the literature concerning WML and myoclonus in Wilson's disease.
Inhibitor of DNA Binding 4 (ID4) is a member of the helix-loop-helix ID family of transcription factors, mostly present in the central nervous system during embryonic development, that has been ...associated with TP53 mutation and activation of SOX2. Along with other transcription factors, ID4 has been implicated in the tumorigenic process of astrocytomas, contributing to cell dedifferentiation, proliferation and chemoresistance. In this study, we aimed to characterize the ID4 expression pattern in human diffusely infiltrative astrocytomas of World Health Organization (WHO) grades II to IV of malignancy (AGII-AGIV); to correlate its expression level to that of SOX2, SOX4, OCT-4 and NANOG, along with TP53 mutational status; and to correlate the results with the clinical end-point of overall survival among glioblastoma patients. Quantitative real time PCR (qRT-PCR) was performed in 130 samples of astrocytomas for relative expression, showing up-regulation of all transcription factors in tumor cases. Positive correlation was found when comparing ID4 relative expression of infiltrative astrocytomas with SOX2 (r = 0.50; p<0.005), SOX4 (r = 0.43; p<0.005) and OCT-4 (r = 0.39; p<0.05). The results from TP53 coding exon analysis allowed comparisons between wild-type and mutated status only in AGII cases, demonstrating significantly higher levels of ID4, SOX2 and SOX4 in mutated cases (p<0.05). This pattern was maintained in secondary GBM and further confirmed by immunohistochemistry, suggesting a role for ID4, SOX2 and SOX4 in early astrocytoma tumorigenesis. Combined hyperexpression of ID4, SOX4 and OCT-4 conferred a much lower (6 months) median survival than did hypoexpression (18 months). Because both ID4 alone and a complex of SOX4 and OCT-4 activate SOX2 transcription, it is possible that multiple activation of SOX2 impair the prognosis of GBM patients. These observational results of associated expression of ID4 with SOX4 and OCT-4 may be used as a predictive factor of prognosis upon further confirmation in a larger GBM series.
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