Rara presentación de un linfoma espinal: informe de caso y diagnóstico mediante resonancia magnética / Rare presentation of a spinal lymphoma: case report and diagnosis by magnetic resonance imaging

El linfoma primario del sistema nervioso central es una forma de enfermedad extraganglionar originada en el cerebro, la leptomeninges, la médula espinal o los ojos. Los tumores espinales son neoplasias de baja prevalencia y pueden causar una morbimortalidad neurológica considerable. El linfoma aislado que surge dentro del conducto dural es la forma menos común de linfoma primario del sistema nervioso central: representa aproximadamente el 1% de los casos y se observa más a menudo en el contexto de diseminación secundaria que como el sitio primario de origen. Los síntomas son inespecíficos y dependen del nivel espinal involucrado. La presentación es insidiosa e incluye dorsalgia, debilidad y dificultad progresiva para la deambulación. La resonancia magnética es la modalidad de elección para búsqueda de lesiones dentro del conducto espinal/raquídeo, en pacientes que presentan síntomas neurológicos. El tratamiento quirúrgico no resulta útil, y el objetivo principal de la cirugía es conocer el diagnóstico histológico. (AU)

A primary central nervous system lymphoma is a form of extranodal disease originating in the brain, leptomeninges, spinal cord, or eyes. Spinal tumors are low-prevalence neoplasms and can cause considerable neurological morbidity and mortality. An isolated lymphoma emerging within the dural canal is the rarest form of primary central nervous system lymphoma: it accounts for approximately 1% of cases occurring more often in the context of secondary dissemination than as the primary site of origin. Symptoms are nonspecific and depend on the spinal level involved. The presentation is insidious and includes dorsalgia, weakness, and progressive difficulty in ambulatory function. MRI is the modality of choice to search for lesions within the spinal/rachial canal in patients presenting with neurological symptoms. Surgical treatment is not helpful, and the main objective of surgery is to know the histological diagnosis. (AU)

Neuro-Sjögren: A clinical-radiological paradox affecting the central nervous system.

Neurological manifestations can occur in up to 67% of patients with primary Sjögren's Syndrome, also known as Neuro-Sjogren's syndrome (NSS), and a 5% can present central nervous system involvement, with severe and possibly lethal consequences. We present the radiological follow-up of a patient with NSS who consulted for limb weakness and visual loss, and fourteen years later developed sicca symptoms. She was diagnosed with a saliva gland biopsy, and started treatment with steroids, cyclophosphamide, and then rituximab, achieving a favourable clinical response and stabilization of lesions. We discuss key aspects regarding the clinical presentation, diagnosis, imaging, and treatment of this elusive disease.

Fetal central nervous system anomalies according to RT-PCR and trimester of maternal infection with Zika virus: A prospective cohort study.

INTRODUCTION: In October 2015, an epidemic of Zika began in Colombia's geographic areas with a high population of mosquitoes of the genus Aedes. We aimed to describe the fetal brain ultrasound findings in pregnant women with active symptoms or a history of symptoms suggestive of Zika virus (ZIKV) infection. MATERIAL AND METHODS: Eligible pregnant women were tested with reverse transcriptase-polymerase chain reaction (RT-PCR) for ZIKV and followed prospectively using detailed anatomic ultrasound and transvaginal neurosonography to detect structural anomalies of the fetal central nervous system (CNS). RESULTS: A total of 115 symptomatic women with a positive ZIKV RT-PCR and 55 with a negative ZIKV RT-PCR were enrolled in the study; CNS compromise of the fetus occurred in 22% and 17%, respectively (p = 0.255). Callosal dysgenesis (14.5%) was the most frequent anomaly of the CNS, followed by microcephaly (13.6%) and neuronal migration disorders (8.3%). When symptomatic ZIKV RT-PCR-positive women were categorized by trimester of infection, CNS anomalies were present in 40% of first-trimester infections, compared with 21% and 7% in second- and third-trimester infections (p = 0.002). CNS anomalies were also more severe in first-trimester-infected fetuses than in second- and third-trimester-infected fetuses. The high prevalence of CNS anomalies in fetuses of symptomatic ZIKV RT-PCR negative women suggests a high rate of false-negative cases and an even higher prevalence of CNS anomalies than observed in this study. CONCLUSIONS: The prevalence of fetal CNS anomalies was higher than previously reported in the literature for both symptomatic RT-PCR-positive and -negative pregnant women. Corpus callosum anomalies, microcephaly, neuronal migration disorders, and brain parenchymal hyperechogenicities were the most frequent CNS anomalies detected. In addition, CNS anomalies were more frequent and severe in infected fetuses during the first trimester of pregnancy than during the second or third trimester.

'A picture is worth a thousand words': The use of microscopy for imaging neuroinflammation.

Since the first studies of the nervous system by the Nobel laureates Camillo Golgi and Santiago Ramon y Cajal using simple dyes and conventional light microscopes, microscopy has come a long way to the most recent techniques that make it possible to perform images in live cells and animals in health and disease. Many pathological conditions of the central nervous system have already been linked to inflammatory responses. In this scenario, several available markers and techniques can help imaging and unveil the neuroinflammatory process. Moreover, microscopy imaging techniques have become even more necessary to validate the large quantity of data generated in the era of 'omics'. This review aims to highlight how to assess neuroinflammation by using microscopy as a tool to provide specific details about the cell's architecture during neuroinflammatory conditions. First, we describe specific markers that have been used in light microscopy studies and that are widely applied to unravel and describe neuroinflammatory mechanisms in distinct conditions. Then, we discuss some important methodologies that facilitate the imaging of these markers, such as immunohistochemistry and immunofluorescence techniques. Emphasis will be given to studies using two-photon microscopy, an approach that revolutionized the real-time assessment of neuroinflammatory processes. Finally, some studies integrating omics with microscopy will be presented. The fusion of these techniques is developing, but the high amount of data generated from these applications will certainly improve comprehension of the molecular mechanisms involved in neuroinflammation.

Assessing cognitive control and the reward system in overweight young adults using sensitivity to incentives and white matter integrity.

Cognitive control and incentive sensitivity are related to overeating and obesity. Optimal white matter integrity is relevant for an efficient interaction among reward-related brain regions. However, its relationship with sensitivity to incentives remains controversial. The aim of this study was to assess the incentive sensitivity and its relationship to white matter integrity in normal-weight and overweight groups. Seventy-six young adults participated in this study: 31 were normal-weight (body mass index [BMI] 18.5 to < 25.0 kg/m2, 14 females) and 45 were overweight (BMI ≥ 25.0 kg/m2, 22 females). Incentive sensitivity was assessed using an antisaccade task that evaluates the effect of incentives (neutral, reward, and loss avoidance) on cognitive control performance. Diffusion tensor imaging studies were performed to assess white matter integrity. The relationship between white matter microstructure and incentive sensitivity was investigated through tract-based spatial statistics. Behavioral antisaccade results showed that normal-weight participants presented higher accuracy (78.0 vs. 66.7%, p = 0.01) for loss avoidance incentive compared to overweight participants. Diffusion tensor imaging analysis revealed a positive relationship between fractional anisotropy and loss avoidance accuracy in the normal-weight group (p < 0.05). No relationship reached significance in the overweight group. These results support the hypothesis that white matter integrity is relevant for performance in an incentivized antisaccade task.

Mediciones frecuentes en el sistema nervioso central mediante tomografía computada e imágenes de resonancia magnética / Frequent measurements in the central nervous system by computed tomography and magnetic resonance imaging

Resumen En la práctica diaria, durante la realización de informes, suelen presentarse variantes anatómicas, lesiones y diversas patologías del sistema nervioso central (SNC) en las que es necesario realizar algún tipo de mediciones con la finalidad de formular un diagnóstico preciso. Esas mediciones permiten al médico derivante o tratante programar y realizar procedimientos terapéuticos mínimamente invasivos o que requieran una intervención quirúrgica de mayor relevancia. Realizamos una descripción de las mediciones más frecuentes en el SNC empleando tomografía computada (TC) e imágenes de resonancia magnética (RM).

Abstract On daily practice, during the making of reports, anatomical variants often appear, as well as injuries and different pathologies of the central nervous system (CNS) in which it is necessary to take some kind of measurements, to make an accurate diagnosis. These measurements allow the practicing physician to program and perform minimally invasive therapeutic methods or others that request a surgery of greater relevance. We describe the most frequent measurements in the NCS using Computed Tomography (CT) or Magnetic Resonance Imaging (MRI).

Cardiac findings in infants with in utero exposure to Zika virus- a cross sectional study.

BACKGROUND: Antenatal exposure to Zika virus (ZIKV) is related to severe neurological manifestations. A previous study in Brazil reported an increased incidence of non-severe congenital heart defects in infants with diagnosis of congenital Zika syndrome but without laboratory confirmation of ZIKV infection in the mother or infant. The objective of this study is to report echocardiographic (ECHO) findings in infants with laboratory confirmed antenatal exposure to ZIKV. METHODOLOGY: Cross sectional study of cardiologic assessments of infants born between November 2015 and January 2017 with confirmed vertical exposure to ZIKV in Rio de Janeiro, Brazil. RESULTS: The study enrolled 120 children with a median age of 97 days (1 to 376 days). In utero exposure to ZIKV was confirmed in 97 children (80,8%) through positive maternal polymerase chain reaction (PCR) results during pregnancy or a positive PCR result at birth; 23 additional children (19.2%) had maternal positive PCR results during pregnancy and postnatally. Forty- eight infants (40%) had cardiac defects noted on ECHO. Thirteen infants (10.8%) had major cardiac defects (atrial septal defect, ventricular septal defect, patent ductus arteriosus). None of the defects were severe. The frequency of major defects was higher in infants whose mothers had a rash in the 2nd trimester of pregnancy, or who had altered Central Nervous System (CNS) imaging postnatally or were preterm. CONCLUSIONS: Infants with in utero ZIKV exposure have a higher prevalence of major cardiac defects, however none were severe enough to require immediate intervention. For this reason, guidelines for performance of postnatal ECHO in this population should follow general newborn screening guidelines, which significantly reduces the burden of performing emergent fetal or neonatal ECHOs in a setting where resources are not available, such as most Brazilian municipalities.

Linfoma primario del sistema nervioso central: el aporte de las técnicas convencionales de diagnóstico por imágenes / Primary CNS lymphoma: The contribution of conventional diagnostic imaging techniques

El linfoma primario del sistema nervioso central (LPSNC) tiene una presentación predecible en las imágenes convencionales, tanto en pacientes inmunocompetentes como inmunodeprimidos. Analizamos las características imagenológicas que nos permiten reconocer ambos casos y realizamos una revisión de las formas clínicas más relevantes del LPSNC, así como su aspecto en las imágenes obtenidas con técnicas convencionales del Diagnóstico por Imágenes, basándonos en un análisis retrospectivo de nuestros archivos institucionales y la literatura actual. La revisión abarca todas las presentaciones relevantes de esta enfermedad poco frecuente para permitir un diagnóstico temprano, crucial para el adecuado tratamiento.

Primary central nervous system lymphoma (PCNSL) has a predictable imaging appearance on conventional imaging in immunocompetent and immunocompromised patients. The imaging features that enable both types of patients are discussed. The extensive imaging review presented here of the most relevant PCNSL clinical presentations and their imaging appearances using conventional imaging techniques is based on a retrospective analysis of our institutional files and on the current literature. The review covers all of the relevant appearances of this uncommon disease to enable early diagnosis, which is crucial for proper patient management.

Trans-Pacific tele-ultrasound image transmission of fetal central nervous system structures.

OBJECTIVE: To assess the quality of images and video clips of fetal central nervous (CNS) structures obtained by ultrasound and transmitted via tele-ultrasound from Brazil to Australia. METHODS: In this cross-sectional study, 15 normal singleton pregnant women between 20 and 26 weeks were selected. Fetal CNS structures were obtained by images and video clips. The exams were transmitted in real-time using a broadband internet and an inexpensive video streaming device. Four blinded examiners evaluated the quality of the exams using the Likert scale. We calculated the mean, standard deviation, mean difference, and p values were obtained from paired t tests. RESULTS: The quality of the original video clips was slightly better than that observed by the transmitted video clips; mean difference considering all observers = 0.23 points. In 47/60 comparisons (78.3%; 95% CI = 66.4-86.9%) the quality of the video clips were judged to be the same. In 182/240 still images (75.8%; 95% CI = 70.0-80.8%) the scores of transmitted image were considered the same as the original. CONCLUSION: We demonstrated that long distance tele-ultrasound transmission of fetal CNS structures using an inexpensive video streaming device provided images of subjective good quality.

Burkitt lymphoma with initial clinical presentation due to infiltration of the central nervous system and eye orbits.

BACKGROUND: Burkitt lymphoma rarely affects the central nervous system and ocular region. Under these conditions, computed tomography and (particularly) magnetic resonance imaging of the skull increase the diagnostic accuracy, as they objectively show the topography of lesions and the effect of neoplasia on structures. CASE REPORT: We report here the case of a 17-year-old male whose initial clinical manifestations were related to neurological impairment and to the ocular musculature and ocular innervation. The diagnosis of Burkitt lymphoma with leukemization and infiltration of the central nervous system was confirmed. CONCLUSIONS: In this case, it is important to recognize that the neuroimaging findings were fundamentally important in indicating the initial form of the disease and in directing the appropriate clinical management.

[Central nervous system neuromodulation for the treatment of epilepsy. II. Mechanisms of action and perspectives]. / Neuromodulation du système nerveux central dans le traitement des épilepsies. II . Mécanismes d'action et perspectives.

OBJECTIVES: Review of available evidence of the mechanisms of action underlying the anticonvulsant effect of current applied to various CNS structures. MATERIAL AND METHODS: Studies were conducted from observations of patients with drug-resistant seizures and treated with neuromodulation. Seizures originated from various cortical areas with secondary generalization or were initially generalized without a focal origin, either clinically or on EEG or SEEG. Intracranial recordings and SEEG were performed using subdural grids or depth electrodes implanted either for recordings or therapeutic deep brain stimulation (DBS). In a group of mesial temporal lobe epilepsy patients investigated with subdural or SEEG electrodes, the epileptogenic focus area was stimulated for 15 days before anterior temporal lobectomy. The surgical specimen was examined using standard and electronic microscopy and autoradiography in order to identify several neurotransmitter receptors. They also were compared to other surgical specimens from epileptic patients who had intracerebral recordings but without stimulation (epileptic controls) and to autopsy specimens from subjects with no history of epilepsy (nonepileptic controls). RESULTS: High-frequency (HF) stimulation increases the after-discharge threshold of the stimulated site and alters the cycles of potentials evoked by a test stimulation using a paradigm of coupled stimulations. HF stimulation also decreases local cerebral blood flow in the stimulated area as demonstrated on SPECT. Parahippocampal cortex HF stimulation significantly increases the GABAergic benzodiazepine receptor density in the stimulated area. In addition, centromedianum (CM) thalamic nucleus HF stimulation suppresses thalamic and cortical spike-waves, as well as secondary synchronous discharges visible on EEG. Conversely, low-frequency (3-Hz) bilateral CM stimulation induces a typical absence clinically and on EEG. CONCLUSION: High-frequency stimulation is responsible for an inhibition of local and propagated epileptogenesis. Low-frequency stimulation may trigger or enhance epileptogenesis when applied on epileptogenic regions.

GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?

We report four patients with GLI2 mutations together with their associated phenotypes: (1) holoprosencephaly-like phenotype, (2) anophthalmia, branchial arch anomalies, and CNS abnormalities, (3) heminasal aplasia and orbital anomalies, and (4) lobar holoprosencephaly. This diversity of phenotypes expands our understanding. Findings include not only (1) holoprosencephaly or a holoprosencephaly-like phenotype, but also (2) heminasal aplasia with orbital anomalies, and (3) branchial arch anomalies of the type seen in hemifacial microsomia with anophthalmia and in oculoauriculofrontonasal syndrome. Finally, this is the first report of a double mutation involving GLI2 and PTCH in the same patient.

Newly recognized syndrome with heminasal aplasia and ocular anomalies or wider spectrum of heminasal aplasia/atypical clefting syndrome?

We report on five unrelated Brazilian patients with heminasal aplasia associated with diverses anomalies, including lateral proboscis, and anomalies of the eye and first branchial arch. We suggest that these patients represent different conditions within the spectrum of the heminasal aplasia malformation. Clinical, genetic, and differential diagnosis are discussed.

Apert syndrome: analysis of associated brain malformations and conformational changes determined by surgical treatment.

Apert Syndrome, also called acrocephalosyndactylia type 1, is characterized by craniostenosis with early fusion of sutures of the vault and/or cranial base, associated to mid-face hypoplasia, symmetric syndactylia of the hands and feet and other systemic malformations. CNS malformations and intracranial hypertension are frequently observed in these patients. Early surgical treatment aims to minimize the deleterious effects of intracranial hypertension. Fronto-orbital advancement, the usual surgical technique, increases the intracranial Volume and improves the disposition of encephalic structures previously deformed by a short skull. This study analyzes CNS alterations revealed by magnetic resonance in 18 patients presenting Apert Syndrome, and the conformational alterations in the encephalic structures after surgical treatment. The patients' age in February 2001 ranged from 14 to 322 Months (m=107). Image study included brain magnetic resonance showing ventricular enlargement in five cases (27.8%), corpus callosum hypoplasia in five cases (27.8%), septum pellucidum hypoplasia in five cases (27.8%), cavum vergae in two cases (11.1%) and, arachnoid cyst in the posterior fossa in two cases (11.1%). Absence of CNS alterations was noted in 44.4% of cases. A corpus callosum morphologic index was established by dividing its height by its length, which revealed values that ranged from 0.4409 to 1.0237. The values of this index were correlated to the occurrence or absence of surgical treatment (p=0.012; t=2.83). Data analysis allowed the conclusion that the corpus callosum morphologic measure quantified the conformational alterations of the cerebral structures determined by the surgical treatment.

Candidiasis urinaria y cerebral en un neonato con malformación urinaria bilateral congénita: hallazgos ultrasonográficos / Neonatal brain and urinary candidal infection: US findings

El pronóstico de este trabajo es describir los hallazgos ecográficos y demostrar la utilidad del ultrasonido en el diagnóstico precoz de la candidiasis urinaria y cerebral, por lo que realizamos ecografía prenatal de una paciente en la que se diagnosticó la presencia de un feto con uronefrosis bilateral congénita y ecografías tempranas al neonato pretérmino. La detección por US de la presencia de bolas fúngicas dentro de la vía excretora previamente dilatada fue determinante para realizar el cateterismo de ambos uréteres por medio del cual se obtuvo material para cultivo y sirvió para derivación urinaria. Concluimos que el US es el mejor método de diagnóstico por imágenes para ser utilizado en los neonatos prematuros de bajo peso y de alto riesgo (AU)

CNS involvement in AIDS patients as seen with CT and MR: a review.

The human immunodeficiency virus infected persons frequently have manifestations of central nervous system disfunction. These can be primary involvement or secondary processes such as infections or tumors. The present paper presents a short review of radiologic CNS findings in patients with AIDS as seen on CT and or MRI. The radiologic findings of HIV-1 encephalitis, toxoplasmosis, primary CNS lymphoma, PMLE, cryptococcosis, histoplasmosis, CMV encephalitis, HVS and varicella are presented. We expect this will ultimately help in the management of the AIDS patient.