RESUMEN
BACKGROUND: Intrauterine infection with the Zika virus (ZIKV) has been connected to severe brain malformations, microcephaly, and abnormal electrophysiological activity. METHODS: We describe the interictal electroencephalographic (EEG) recordings of 47 children born with ZIKV-derived microcephaly. EEGs were recorded in the first year of life and correlated with brain morphology. In 31 subjects, we tested the association between computed tomography (CT) findings and interictal epileptiform discharges (IED). In eighteen, CTs were used for correlating volumetric measurements of the brainstem, cerebellum, and prosencephalon with the rate of IED. FINDINGS: Twenty-nine out of 47 (62%) subjects were diagnosed as having epilepsy. Those subjects presented epileptiform discharges, including unilateral interictal spikes (26/29, 90%), bilateral synchronous and asynchronous interictal spikes (21/29, 72%), and hypsarrhythmia (12/29, 41%). Interestingly, 58% of subjects with clinical epilepsy were born with rhombencephalon malformations, while none of the subjects without epilepsy showed macroscopic abnormalities in this region. The presence of rhombencephalon malformation was associated with epilepsy (odds ratio of 34; 95% CI: 2 - 654). Also, the presence of IED was associated with smaller brain volumes. Age-corrected total brain volume was inversely correlated with the rate of IED during sleep. Finally, 11 of 44 (25%) subjects presented sleep spindles. We observed an odds ratio of 0·25 (95% CI: 0·06 - 1·04) for having sleep spindles given the IED presence. INTERPRETATION: The findings suggest that certain CT imaging features are associated with an increased likelihood of developing epilepsy, including higher rates of IED and impaired development of sleep spindles, in the first year of life of CZVS subjects. FUNDING: This work was supported by the Brazilian Federal Government through a postdoctoral fellowship for EBS (Talented Youth, Science without Borders), an undergraduate scholarship for AJR (Institutional Program of Science Initiation Scholarships, Federal University of Rio Grande do Norte, Brazil), by International Centre for Genetic Engineering and Biotechnology (CRP/BRA18-05_EC) and by CAPES (Grant number 440893/2016-0), and CNPq (Grant number 88881.130729/2016-01).
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Pediatric multiple sclerosis (MS) deserves special attention because of its impact on cognitive function and development. Although knowledge regarding pediatric MS has rapidly increased, understanding the peculiarities of this population remains crucial for disease management. There is limited expertise about the efficacy and safety of current disease-modifying agents. Although pathophysiology is not entirely understood, some risk factors and immunological features have been described and are discussed herein. While the revised International Pediatric MS Study Group diagnostic criteria have improved the accuracy of diagnosis, the recently revised McDonald criteria also offer some new insights into the pediatric population. It is fundamental that radiologists have strong knowledge about the vast spectrum of demyelinating disorders that can occur in childhood to ensure appropriate diagnosis and provide early treatment.
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Esclerosis Múltiple/diagnóstico por imagen , Edad de Inicio , Niño , Diagnóstico Diferencial , HumanosRESUMEN
Toxic and metabolic brain disorders are relatively uncommon diseases that affect the central nervous system, but they are important to recognize as they can lead to catastrophic outcomes if not rapidly and properly managed. Imaging plays a key role in determining the most probable diagnosis, pointing to the next steps of investigation, and providing prognostic information. The majority of cases demonstrate bilateral and symmetric involvement of structures at imaging, affecting the deep gray nuclei, cortical gray matter, and/or periventricular white matter, and some cases show specific imaging manifestations. When an appropriate clinical situation suggests exogenous or endogenous toxic effects, the associated imaging pattern usually indicates a restricted group of diagnostic possibilities. Nonetheless, toxic and metabolic brain disorders in the literature are usually approached in the literature by starting with common causal agents and then reaching imaging abnormalities, frequently mixing many different possible manifestations. Conversely, this article proposes a systematic approach to address this group of diseases based on the most important imaging patterns encountered in clinical practice. Each pattern is suggestive of a most likely differential diagnosis, which more closely resembles real-world scenarios faced by radiologists. Basic pathophysiologic concepts regarding cerebral edemas and their relation to imaging are introduced-an important topic for overall understanding. The most important imaging patterns are presented, and the main differential diagnosis for each pattern is discussed. Online supplemental material is available for this article. ©RSNA, 2019.
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Encefalopatías Metabólicas/diagnóstico por imagen , Imagen por Resonancia Magnética , Neuroimagen , Síndromes de Neurotoxicidad/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Edema Encefálico/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética/métodos , Neuroimagen/métodos , Tomografía Computarizada por Rayos X/métodosRESUMEN
Spinal muscular atrophy (SMA) type 0 is the most severe form of SMA, associated with the SMN1 gene and manifesting at birth. Most patients die in the first weeks of life. In this work, we present 3 patients with SMA type 0 who survived >1 year and presented diffuse and progressive brain abnormalities on magnetic resonance imaging, which are not usually seen in patients with SMA. Thus, severe brain involvement may likely be the full end manifestation of an already extreme SMA phenotype caused by substantial reduction of the SMN protein in the brain. ANN NEUROL 2019;86:458-462.
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Encéfalo/patología , Atrofia Muscular Espinal/patología , Preescolar , Progresión de la Enfermedad , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Atrofia Muscular Espinal/genética , Neuroimagen , Fenotipo , Proteína 1 para la Supervivencia de la Neurona Motora/genéticaRESUMEN
Background and Purpose- Thrombus imaging characteristics have been reported to be useful to predict functional outcome and reperfusion in acute ischemic stroke. However, conflicting data about this subject exist in patients undergoing endovascular treatment. Therefore, we aimed to evaluate whether thrombus imaging characteristics assessed on computed tomography are associated with outcomes in patients with acute ischemic stroke treated by endovascular treatment. Methods- The MR CLEAN (Multicenter Randomized Clinical Trial of Endovascular Treatment for Acute Ischemic Stroke in the Netherlands) Registry is an ongoing, prospective, and observational study in all centers performing endovascular treatment in the Netherlands. We evaluated associations of thrombus imaging characteristics with the functional outcome (modified Rankin Scale at 90 days), mortality, reperfusion, duration of endovascular treatment, and symptomatic intracranial hemorrhage using univariable and multivariable regression models. Thrombus characteristics included location, clot burden score (CBS), length, relative and absolute attenuation, perviousness, and distance from the internal carotid artery terminus to the thrombus. All characteristics were assessed on thin-slice (≤2.5 mm) noncontrast computed tomography and computed tomography angiography, acquired within 30 minutes from each other. Results- In total, 408 patients were analyzed. Thrombus with distal location, higher CBS, and shorter length were associated with better functional outcome (adjusted common odds ratio, 3.3; 95% CI, 2.0-5.3 for distal M1 occlusion compared with internal carotid artery occlusion; adjusted common odds ratio, 1.15; 95% CI, 1.07-1.24 per CBS point; and adjusted common odds ratio, 0.96; 95% CI, 0.94-0.99 per mm, respectively) and reduced duration of endovascular procedure (adjusted coefficient B, -14.7; 95% CI, -24.2 to -5.1 for distal M1 occlusion compared with internal carotid artery occlusion; adjusted coefficient B, -8.5; 95% CI, -14.5 to -2.4 per CBS point; and adjusted coefficient B, 7.3; 95% CI, 2.9-11.8 per mm, respectively). Thrombus perviousness was associated with better functional outcome (adjusted common odds ratio, 1.01; 95% CI, 1.00-1.02 per Hounsfield units increase). Distal thrombi were associated with successful reperfusion (adjusted odds ratio, 2.6; 95% CI, 1.4-4.9 for proximal M1 occlusion compared with internal carotid artery occlusion). Conclusions- Distal location, higher CBS, and shorter length are associated with better functional outcome and faster endovascular procedure. Distal thrombus is strongly associated with successful reperfusion, and a pervious thrombus is associated with better functional outcome.
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Accidente Cerebrovascular/diagnóstico por imagen , Accidente Cerebrovascular/patología , Accidente Cerebrovascular/cirugía , Trombosis/diagnóstico por imagen , Trombosis/patología , Anciano , Anciano de 80 o más Años , Angiografía por Tomografía Computarizada , Procedimientos Endovasculares/métodos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Tomografía Computarizada por Rayos X , Resultado del TratamientoRESUMEN
Vicilins are 7S globulins which constitute the major seed storage proteins in leguminous species. Variant vicilins showing differential binding affinities for chitin have been implicated in the resistance and susceptibility of cowpea to the bruchid Callosobruchus maculatus. These proteins are members of the cupin superfamily, which includes a wide variety of enzymes and non-catalytic seed storage proteins. The cupin fold does not share similarity with any known chitin-biding domain. Therefore, it is poorly understood how these storage proteins bind to chitin. In this work, partial cDNA sequences encoding ß-vignin, the major component of cowpea vicilins, were obtained from developing seeds. Three-dimensional molecular models of ß-vignin showed the characteristic cupin fold and computational simulations revealed that each vicilin trimer contained 3 chitin-binding sites. Interaction models showed that chito-oligosaccharides bound to ß-vignin were stabilized mainly by hydrogen bonds, a common structural feature of typical carbohydrate-binding proteins. Furthermore, many of the residues involved in the chitin-binding sites of ß-vignin are conserved in other 7S globulins. These results support previous experimental evidences on the ability of vicilin-like proteins from cowpea and other leguminous species to bind in vitro to chitin as well as in vivo to chitinous structures of larval C. maculatus midgut.
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Proteínas de Plantas/genética , Proteínas de Almacenamiento de Semillas/genética , Vigna/genética , Animales , Sitios de Unión , Quitina/química , Quitina/genética , Clonación Molecular , Escarabajos/patogenicidad , ADN Complementario/genética , Resistencia a la Enfermedad/genética , Enfermedades de las Plantas/genética , Enfermedades de las Plantas/parasitología , Proteínas de Plantas/química , Unión Proteica , Proteínas de Almacenamiento de Semillas/química , Semillas/química , Semillas/genética , Vigna/crecimiento & desarrolloRESUMEN
Diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) remains a challenge because of the large variability of the clinical scenario, especially in its early stages, which may mimic several reversible or treatable disorders. The molecular basis of prion disease, as well as its brain propagation and the pathogenesis of the illness, have become better understood in recent decades. Several reports have listed recognizable clinical features and paraclinical tests to supplement the replicable diagnostic criteria in vivo. Nevertheless, we lack specific data about the differential diagnosis of CJD at imaging, mainly regarding those disorders evolving with similar clinical features (mimicking disorders). This review provides an update on the neuroimaging patterns of sCJD, emphasizing the relevance of magnetic resonance (MR) imaging, summarizing the clinical scenario and molecular basis of the disease, and highlighting clinical, genetic, and imaging correlations in different subtypes of prion diseases. A long list of differential diagnoses produces a comprehensive pictorial review, with the aim of enabling radiologists to identify typical and atypical patterns of sCJD. This review reinforces distinguishable imaging findings and confirms diffusion-weighted imaging (DWI) features as pivotal in the diagnostic workup of sCJD, as these findings enable radiologists to reliably recognize this rare but invariably lethal disease. A probable diagnosis is justified when expected MR imaging patterns are demonstrated and CJD-mimicking disorders are confidently ruled out. ©RSNA, 2017.
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Síndrome de Creutzfeldt-Jakob/diagnóstico por imagen , Síndrome de Creutzfeldt-Jakob/patología , Errores Diagnósticos/prevención & control , Imagen por Resonancia Magnética/métodos , Neuroimagen/métodos , Diagnóstico Diferencial , HumanosRESUMEN
ABSTRACT Collateral circulation is a physiologic pathway that protects the brain against ischemic injury and can potentially bypass the effect of a blocked artery, thereby influencing ischemic lesion size and growth. Several recent stroke trials have provided information about the role of collaterals in stroke pathophysiology, and collateral perfusion has been recognized to influence arterial recanalization, reperfusion, hemorrhagic transformation, and neurological outcomes after stroke. Our current aim is to summarize the anatomy and physiology of the collateral circulation and to present and discuss a comprehensible review of the related knowledge, particularly the effects of collateral circulation on the time course of ischemic injury and stroke severity, as well as imaging findings and therapeutic implications.
RESUMO A circulação colateral é um circuito fisiológico de proteção contra alterações isquêmicas que, potencialmente, evita os efeitos de uma oclusão arterial e com isso pode influenciar nas dimensões e no crescimento de uma lesão isquêmica. Vários estudos recentes forneceram informações a respeito do papel das colaterais na fisiopatologia do acidente vascular encefálico isquêmico e demonstraram a capacidade da circulação colateral de influenciar as taxas de reperfusão, recanalização, transformação hemorrágica e com isso desfecho clínico dos pacientes. O objetivo desta revisão é sintetizar a anatomia e a fisiologia da circulação colateral encefálica, apresentando e discutindo, o que se conhece atualmente acerca do seu efeito na cronologia e gravidade da lesão isquêmica, além dos achados de imagens e implicações terapêuticas.
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Humanos , Isquemia Encefálica/fisiopatología , Circulación Cerebrovascular/fisiología , Circulación Colateral/fisiología , Accidente Cerebrovascular/fisiopatología , Velocidad del Flujo Sanguíneo , Angiografía Cerebral , Isquemia Encefálica/diagnóstico por imagen , Accidente Cerebrovascular/diagnóstico por imagenRESUMEN
Collateral circulation is a physiologic pathway that protects the brain against ischemic injury and can potentially bypass the effect of a blocked artery, thereby influencing ischemic lesion size and growth. Several recent stroke trials have provided information about the role of collaterals in stroke pathophysiology, and collateral perfusion has been recognized to influence arterial recanalization, reperfusion, hemorrhagic transformation, and neurological outcomes after stroke. Our current aim is to summarize the anatomy and physiology of the collateral circulation and to present and discuss a comprehensible review of the related knowledge, particularly the effects of collateral circulation on the time course of ischemic injury and stroke severity, as well as imaging findings and therapeutic implications.
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Isquemia Encefálica/fisiopatología , Circulación Cerebrovascular/fisiología , Circulación Colateral/fisiología , Accidente Cerebrovascular/fisiopatología , Velocidad del Flujo Sanguíneo , Isquemia Encefálica/diagnóstico por imagen , Angiografía Cerebral , Humanos , Accidente Cerebrovascular/diagnóstico por imagenRESUMEN
The "ears of the lynx" sign was previously reported as a neuroimaging finding observed in patients with autosomal recessive hereditary spastic paraplegia in association with a thin corpus callosum (ARHSP-TCC). We report a patient with a chronic form of Marchiafava-Bignami disease (MBD) that presented with this imaging feature. Diffusion tensor imaging (DTI) and fiber-tracking data support that this finding is a consequence of the structural derangement, which enlarges a preexisting border zone of the bundles of fibers from the corpus callosum (CC) genu to the forceps minor and anterior corona radiata. Therefore, we assume that despite their pathological differences, damage to the anterior portion of the CC is responsible for the imaging similarities between MBD and ARHSP-TCC.
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Ventrículos Cerebrales/patología , Cuerpo Calloso/patología , Imagen de Difusión Tensora/métodos , Lóbulo Frontal/patología , Enfermedad de Marchiafava-Bignami/patología , Fibras Nerviosas Mielínicas/patología , Humanos , Masculino , Persona de Mediana Edad , Vías Nerviosas/patologíaRESUMEN
In several plant tissues, programmed cell death (PCD) is mediated by the combined action of cysteine peptidases, namely KDEL-tailed cysteine peptidases (KDEL-CysEP) and vacuolar processing enzymes (VPE). Here, we performed a search of the draft genome of Jatropha curcas L. (Euphorbiaceae) and identified 2 genes for KDEL-CysEP (Jc-CysEP1 and Jc-CysEP2) and 3 genes for VPE (Jc-ßVPE, Jc-γVPE and Jc-δVPE) and determined the expression patterns of these genes by RT-qPCR in integument and cellular endosperm of seeds collected at seven different developmental stages. We were able to demonstrate that the expression of Jc-CysEP1, Jc-CysEP2, Jc-ßVPE and Jc-γVPE proceeded rapidly from Stage IV, with Jc-CysEP2 displaying the highest relative expression; expression of Jc-δVPE could not be detected in any of the tissues/developmental stages analyzed. Additionally, we showed that the expression pattern of these peptidases correlates with anatomical changes in integument and cellular endosperm, thus suggesting a role for both classes of peptidases in PCD and in protein processing, both of which occur simultaneously in each of these tissues.
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Cisteína Endopeptidasas/genética , Regulación de la Expresión Génica de las Plantas , Genoma de Planta/genética , Jatropha/genética , Apoptosis , Cisteína/metabolismo , Cisteína Endopeptidasas/metabolismo , Cartilla de ADN/genética , Endospermo/citología , Endospermo/genética , Endospermo/crecimiento & desarrollo , Endospermo/fisiología , Genómica , Jatropha/citología , Jatropha/crecimiento & desarrollo , Jatropha/fisiología , Oligopéptidos , Filogenia , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Señales de Clasificación de Proteína , Semillas/citología , Semillas/genética , Semillas/crecimiento & desarrollo , Semillas/fisiologíaRESUMEN
Atypical lesions of a presumably idiopathic inflammatory demyelinating origin present quite variably and may pose diagnostic problems. The subsequent clinical course is also uncertain. We, therefore, wanted to clarify if atypical idiopathic inflammatory demyelinating lesions (AIIDLs) can be classified according to previously suggested radiologic characteristics and how this classification relates to prognosis. Searching the databases of eight tertiary referral centres we identified 90 adult patients (61 women, 29 men; mean age 34 years) with ≥ 1 AIIDL. We collected their demographic, clinical and magnetic resonance imaging data and obtained follow-up (FU) information on 77 of these patients over a mean duration of 4 years. The AIIDLs presented as a single lesion in 72 (80 %) patients and exhibited an infiltrative (n = 35), megacystic (n = 16), Baló (n = 10) or ring-like (n = 16) lesion appearance in 77 (86 %) patients. Additional multiple sclerosis (MS)-typical lesions existed in 48 (53 %) patients. During FU, a further clinical attack occurred rarely (23-35 % of patients) except for patients with ring-like AIIDLs (62 %). Further attacks were also significantly more often in patients with coexisting MS-typical lesions (41 vs. 10 %, p < 0.005). New AIIDLs developed in six (7 %), and new MS-typical lesions in 29 (42 %) patients. Our findings confirm the previously reported subtypes of AIIDLs. Most types confer a relatively low risk of further clinical attacks, except for ring-like lesions and the combination with MS-typical lesions.
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Esclerosis Múltiple/patología , Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante/patología , Adolescente , Adulto , Factores de Edad , Encéfalo/patología , Bases de Datos Factuales , Progresión de la Enfermedad , Femenino , Estudios de Seguimiento , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Esclerosis Múltiple/clasificación , Esclerosis Múltiple/diagnóstico , Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante/clasificación , Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante/diagnóstico , Pronóstico , Factores Sexuales , Adulto JovenAsunto(s)
Cromosomas Humanos Par 1/genética , Proteínas de la Matriz Extracelular/genética , Proteinosis Lipoidea de Urbach y Wiethe , Adulto , Encéfalo/patología , Femenino , Humanos , Proteinosis Lipoidea de Urbach y Wiethe/diagnóstico , Proteinosis Lipoidea de Urbach y Wiethe/genética , Proteinosis Lipoidea de Urbach y Wiethe/patología , Neurofibromatosis/diagnóstico , Neurofibromatosis/genética , Neurofibromatosis/patología , Neuroimagen/métodos , Adulto JovenAsunto(s)
Encefalopatías Metabólicas/etiología , Encefalopatías Metabólicas/patología , Cuerpo Estriado/patología , Diálisis Renal/efectos adversos , Acidosis , Ganglios Basales/patología , Nitrógeno de la Urea Sanguínea , Edema Encefálico/etiología , Edema Encefálico/patología , Niño , Epilepsia Tónico-Clónica/etiología , Femenino , Humanos , Nefritis Lúpica/complicaciones , Nefritis Lúpica/terapia , Imagen por Resonancia Magnética , Urea/metabolismoAsunto(s)
Hamartoma/patología , Enfermedades Hipotalámicas/patología , Síndrome de Pallister-Hall/patología , Determinación de la Edad por el Esqueleto , Preescolar , Diagnóstico Diferencial , Pie/diagnóstico por imagen , Hamartoma/diagnóstico , Hamartoma/diagnóstico por imagen , Mano/inervación , Humanos , Enfermedades Hipotalámicas/diagnóstico , Enfermedades Hipotalámicas/diagnóstico por imagen , Extremidad Inferior/diagnóstico por imagen , Imagen por Resonancia Magnética , Masculino , Síndrome de Pallister-Hall/diagnóstico , Síndrome de Pallister-Hall/diagnóstico por imagen , PronósticoRESUMEN
BACKGROUND: Neurofibromatosis type 1 (NF1) is a hereditary disease with a dominant autosomal pattern. In children and adolescents, it is frequently associated with the appearance of T2-weighted hyperintensities in the brain's white matter. MRI with diffusion tensor imaging (DTI) is used to detect white matter abnormalities by measuring fractional anisotropy (FA). OBJECTIVE: This study employed DTI to evaluate the relationship between FA patterns and the findings of T2 sequences, with the aim of improving our understanding of anatomical changes and microstructural brain abnormalities in individuals with NF1. MATERIALS AND METHODS: Forty-four individuals with NF1 and 20 control subjects were evaluated. The comparative analysis of FA between NF1 and control groups was based on four predetermined anatomical regions of the brain hemispheres (basal ganglia, cerebellum, pons, thalamus) and related the presence or absence of T2-weighted hyperintensities in the brain, which are called unidentified bright objects (UBOs). RESULTS: The FA values between the groups demonstrated statistically significant differences (P ≤ 0.05) for the cerebellum and thalamus in patients with NF1, independent of the occurrence of UBOs. CONCLUSIONS: Diffusion tensor MR imaging confirms the influence of UBOs in the decrease of FA values in this series of patients with NF1. Additionally, this technique allows the characterization of microstructural abnormalities even in some brain regions that appear normal in conventional MR sequences.
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Encéfalo/patología , Imagen de Difusión por Resonancia Magnética/métodos , Fibras Nerviosas Mielínicas/patología , Neurofibromatosis 1/patología , Adolescente , Niño , Preescolar , Femenino , Humanos , Masculino , Reproducibilidad de los Resultados , Sensibilidad y Especificidad , Adulto JovenRESUMEN
Bone involvement is a common finding in many types of lymphoma (Clin Oncol 9(3): 195-196, 1997). However, cranial vault affliction has been regarded as an exceedingly rare presentation, particularly in the case of primary lymphoma (J Neurosurg 108(5): 1018-1020, 2008). Our objective is to describe a series of five immunocompetent patients with histologically confirmed cranial vault lymphoma (CVL), and to conduct a systematic review of the current literature. Our review points out identical imaging patterns in most of the lesions for all reported CVL cases, despite their different histological subtypes. This typical pattern can be seen on computed tomography (CT) scans and magnetic resonance imaging (MRI) as an expansive tumor that affects all three compartments of the cranial vault, including the scalp, skull bone, and pachymeninges, even in the absence of osteolysis. We argue that the absence of osteolysis might enhance diagnostic capability. In the appropriate clinical setting, these features represent important disease characteristics that may help with an earlier diagnosis. Large B-cell lymphoma was the most common subtype of primary CVL.
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Duramadre/patología , Linfoma/diagnóstico , Cráneo/patología , Adolescente , Adulto , Anciano , Femenino , Humanos , Inmunocompetencia , Linfoma/patología , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , PubMed/estadística & datos numéricos , Cuero Cabelludo/patología , Cuero Cabelludo/fisiopatología , Tomografía Computarizada por Rayos XRESUMEN
A case report of a 31 year-old woman from Paraíba State (North-Eastern Brazil) that presented severe involvement of ocular globes, ears and meninges. Diagnosis was established after enucleation of her left eye, when adult worms were seen in the midst of a granulomatous inflammatory process. Her response to the initial treatment with levamisole and cambendazole was good, but there was a relapse after the fifth month of treatment even with maintenance doses of both medications. She later received ivermectin and albendazol and responded well.