RESUMEN
INTRODUCTION: The most frequent pathology of the fifth cranial nerve is trigeminal neuralgia (TN), characterized by unilateral orofacial pain, of a paroxysmal nature, with distribution in one or more divisions of the trigeminal nerve. The main objective of this work is to demonstrate the efficacy and safety of neurovascular decompressive surgery (NVD). METHODS: Retrospective analytical study, patients operated on for NVD by TN (n: 155), from January 2006 - 2022, using a retrosigmoid approach and clinicalradiological follow-up, whose intraoperative recording was in 3D system (n: 42). RESULTS: 83.3% (n=35) presented classic NT and 16.7% (n = 7) idiopathic. The right side prevailed with 59.5% (n = 25) and paroxysmal pain with 81% (n=34) of representation in the entire series. Compression of arterial origin represented 76.2% (n: 32) of the cases, the superior cerebellar artery represented the first cause of neurovascular compression (NVC) in 52.4% (n: 22) in the exit zone of the trigeminal nerve. The validity of the magnetic resonance imaging (MRI) protocol selected for this series was analyzed; evidencing a high sensitivity of MRI with 97%, and a specificity of 86%. CONCLUSION: The sensitivity and specificity of highdefinition MRI studies and with special protocols for the evaluation of TN, as gold standard paraclinical, were presented. The DNV offered safe results, a high percentage of the patients were described as successful. The 3D recording allowed retrospective analysis with a vision identical to that of the surgeon during the intraoperative period, the type of NVC.
Introducción: La afección más frecuente del V nervio craneal es la neuralgia del trigémino (NT), se caracteriza por dolor orofacial unilateral, paroxístico, distribuyéndose en una o más divisiones del nervio trigémino. El objetivo de presente trabajo es demostrar la eficacia y seguridad de la cirugía descompresiva neurovascular (DNV). Métodos: Estudio analítico retrospectivo, pacientes intervenidos para DNV por NT (n: 155), desde enero de 2006 - 2022, mediante un abordaje retrosigmoideo y seguimiento clínico-radiológico, cuyo registro intraoperatorio fue en sistema 3D (n: 42). Resultados: 83.3% (n=35) presentó NT clásica y 16.7% (n = 7) idiopática. La mayoría con afectación del lado derecho 59.5% (n = 25) y el dolor paroxístico con 81% (n = 34). La compresión de origen arterial representó 76.2% (n: 32) de los casos, la arteria cerebelosa superior representó la primera causa de compresión neurovascular (CNV) en un 52.4% (n:22) en la zona de salida del nervio trigémino. Se analizó la validez del protocolo de resonancia magnética (RM) seleccionado para esta serie; evidenciando una alta sensibilidad de la RM con 97%, y una especificidad del 86%. Conclusión: Se demostró la sensibilidad y especificidad de los estudios de resonancia magnética (RM) de alta definición y con protocolos especiales para la evaluación de la NT, como paraclínico estándar de oro. La DNV ofreció resultados seguros, un alto porcentaje de los pacientes se calificaron como exitosos. El registro 3D permitió analizar en retrospectiva con una visión idéntica a la del cirujano durante el intraoperatorio, el tipo de CNV.
Asunto(s)
Neuralgia del Trigémino , Humanos , Neuralgia del Trigémino/diagnóstico por imagen , Neuralgia del Trigémino/cirugía , Neuralgia del Trigémino/etiología , Estudios Retrospectivos , Nervio Trigémino/cirugía , Nervio Trigémino/patología , Imagen por Resonancia Magnética/métodos , Descompresión/efectos adversosRESUMEN
Resumen Introducción : La afección más frecuente del V nervio craneal es la neuralgia del trigémino (NT), se caracteriza por dolor orofacial unilateral, paroxístico, distribuyén dose en una o más divisiones del nervio trigémino. El objetivo de presente trabajo es demostrar la eficacia y seguridad de la cirugía descompresiva neurovascular (DNV). Métodos : Estudio analítico retrospectivo, pacientes intervenidos para DNV por NT (n: 155), desde enero de 2006 - 2022, mediante un abordaje retrosigmoideo y seguimiento clínico-radiológico, cuyo registro intraope ratorio fue en sistema 3D (n: 42). Resultados : 83.3% (n=35) presentó NT clásica y 16.7% (n = 7) idiopática. La mayoría con afectación del lado derecho 59.5% (n = 25) y el dolor paroxístico con 81% (n = 34). La compresión de origen arterial representó 76.2% (n: 32) de los casos, la arteria cerebelosa superior representó la primera causa de compresión neurovas cular (CNV) en un 52.4% (n:22) en la zona de salida del nervio trigémino. Se analizó la validez del protocolo de resonancia magnética (RM) seleccionado para esta serie; evidenciando una alta sensibilidad de la RM con 97%, y una especificidad del 86%. Conclusión : Se demostró la sensibilidad y especi ficidad de los estudios de resonancia magnética (RM) de alta definición y con protocolos especiales para la evaluación de la NT, como paraclínico estándar de oro. La DNV ofreció resultados seguros, un alto porcentaje de los pacientes se calificaron como exitosos. El registro 3D permitió analizar en retrospectiva con una visión idéntica a la del cirujano durante el intraoperatorio, el tipo de CNV.
Abstract Introduction : The most frequent pathology of the fifth cranial nerve is trigeminal neuralgia (TN), characterized by unilateral orofacial pain, of a paroxysmal nature, with distribution in one or more divisions of the trigeminal nerve. The main objective of this work is to demonstrate the efficacy and safety of neurovascular decompressive surgery (NVD). Methods : Retrospective analytical study, patients operated on for NVD by TN (n: 155), from January 2006 - 2022, using a retrosigmoid approach and clinical-radiological follow-up, whose intraoperative recording was in 3D system (n: 42). Results : 83.3% (n=35) presented classic NT and 16.7% (n = 7) idiopathic. The right side prevailed with 59.5% (n = 25) and paroxysmal pain with 81% (n=34) of rep resentation in the entire series. Compression of arte rial origin represented 76.2% (n: 32) of the cases, the superior cerebellar artery represented the first cause of neurovascular compression (NVC) in 52.4% (n: 22) in the exit zone of the trigeminal nerve. The validity of the magnetic resonance imaging (MRI) protocol selected for this series was analyzed; evidencing a high sensitivity of MRI with 97%, and a specificity of 86%. Conclusion : The sensitivity and specificity of high-definition MRI studies and with special protocols for the evaluation of TN, as gold standard paraclinical, were presented. The DNV offered safe results, a high percent age of the patients were described as successful. The 3D recording allowed retrospective analysis with a vision identical to that of the surgeon during the intraoperative period, the type of NVC.
RESUMEN
Up to 15% of all strokes affect young patients and the incidence of ischemic stroke in this population is rising. Nevertheless, there is limited information of cerebrovascular events in this population both in our country and in Latin America. The aim of our study was to evaluate the clinical characteristics and risk factors of young adults with stroke in Argentina. This is a prospective, multicenter study of stroke in young adults (18 - 55 years) in Argentina. Patients presenting with a cerebrovascular event within 180 days were included. Stroke subtypes were classified according to TOAST criteria. A total number of 311 patients were enrolled (men 53.9%, mean age: 43.3 years). Ischemic strokes occurred in 91.8% (brain infarcts 82.6%, transient ischemic attack 9.2%) and hemorrhagic strokes in 8.2%. The most frequent vascular risk factors (including ischemic and hemorrhagic strokes) were: hypertension 120 (41%), smoking 92 (31.4%), dyslipidemia 81 (27.6%) and, overweight/obesity: 74 (25.3%). Stroke subtypes were: large artery disease 12.3%, cardioembolism 7.5%, small artery occlusion 11.5%, other defined etiology 27.1%, and undetermined etiology 41.6%. Our study demonstrates that vascular risk factors are very frequent in young adults with stroke. Our findings underline that urgent strategies are required for primary and secondary stroke prevention in this group of patients.
Aproximadamente un 15% de todos los ataques cerebrovasculares afectan a pacientes jóvenes y su incidencia estaría en aumento. Existe escasa información sobre el ataque cerebral en esta población tanto en nuestro país como en Latinoamérica. El objetivo de nuestro estudio fue evaluar las características clínicas y los factores de riesgo de los adultos jóvenes con ictus en Argentina. Realizamos un estudio prospectivo y multicéntrico en adultos jóvenes (18-55 años) en Argentina, que presentaron un evento cerebrovascular dentro de los 180 días previos. Los subtipos de ictus se clasificaron según los criterios de TOAST. Se incluyeron un total de 311 pacientes (hombres 53.9%, edad media: 43,3 años). Los ataques cerebrovasculares isquémicos ocurrieron en el 91.8% (infartos cerebrales 82.6%, ataque isquémico transitorio 9.2%) y los eventos hemorrágicos correspondieron al 8.2%. Los factores de riesgo vascular más frecuentes (incluyendo los eventos isquémicos y hemorrágicos) fueron: hipertensión 120 (41%), tabaquismo 92 (31.4%), dislipidemia 81 (27.6%) y sobrepeso/obesidad: 74 (25.3%). Los subtipos de ictus isquémicos fueron: arteriopatía de gran vaso 12.3%, cardioembolismo 7.5%, oclusión de pequeña arteria 11.5%, otra etiología definida 27.1% y etiología indeterminada 41.6%. Los factores de riesgo vascular son muy frecuentes en los adultos jóvenes con ictus. Nuestros hallazgos subrayan que se requieren estrategias urgentes para la prevención primaria y secundaria del ictus en este grupo particular de pacientes en nuestro país.
Asunto(s)
Isquemia Encefálica , Hipertensión , Ataque Isquémico Transitorio , Accidente Cerebrovascular , Adulto , Argentina/epidemiología , Isquemia Encefálica/epidemiología , Isquemia Encefálica/etiología , Humanos , Hipertensión/complicaciones , Hipertensión/epidemiología , Masculino , Estudios Prospectivos , Factores de Riesgo , Accidente Cerebrovascular/epidemiología , Accidente Cerebrovascular/etiología , Adulto JovenRESUMEN
Abstract Up to 15% of all strokes affect young patients and the incidence of ischemic stroke in this population is rising. Nevertheless, there is limited information of cerebrovascular events in this population both in our country and in Latin America. The aim of our study was to evaluate the clinical characteristics and risk factors of young adults with stroke in Argentina. This is a prospective, multicenter study of stroke in young adults (18 - 55 years) in Argentina. Patients presenting with a cerebrovascular event within 180 days were included. Stroke subtypes were classified according to TOAST criteria. A total number of 311 patients were enrolled (men 53.9%, mean age: 43.3 years). Ischemic strokes occurred in 91.8% (brain infarcts 82.6%, transient ischemic attack 9.2%) and hemorrhagic strokes in 8.2%. The most frequent vascular risk factors (including ischemic and hemorrhagic strokes) were: hypertension 120 (41%), smoking 92 (31.4%), dyslipidemia 81 (27.6%) and, over weight/obesity: 74 (25.3%). Stroke subtypes were: large artery disease 12.3%, cardioembolism 7.5, small artery occlusion 11.5%, other defined etiology 27.1%, and undetermined etiology 41.6%. Our study demonstrates that vascular risk factors are very frequent in young adults with stroke. Our findings underline that urgent strategies are required for primary and secondary stroke prevention in this group of patients.
Resumen Aproximadamente un 15% de todos los ataques cerebrovasculares afectan a pacientes jóvenes y su incidencia estaría en aumento. Existe escasa información sobre el ataque cerebral en esta población tanto en nuestro país como en Latinoamérica. El objetivo de nuestro estudio fue evaluar las características clínicas y los factores de riesgo de los adultos jóvenes con ictus en Argentina. Realizamos un estudio prospectivo y multicéntrico en adultos jóvenes (18-55 años) en Argentina, que presentaron un evento cerebrovascular dentro de los 180 días previos. Los subtipos de ictus se clasificaron según los criterios de TOAST. Se incluyeron un total de 311 pacientes (hombres 53.9%, edad media: 43,3 años). Los ataques cerebrovasculares isquémicos ocurrieron en el 91.8% (infartos cerebrales 82.6%, ataque isquémico transitorio 9.2%) y los eventos hemorrágicos correspondieron al 8.2%. Los factores de riesgo vascular más frecuentes (incluyendo los eventos isquémicos y hemorrágicos) fueron: hipertensión 120 (41%), tabaquismo 92 (31.4%), dislipidemia 81 (27.6%) y sobrepeso/obesidad: 74 (25.3%). Los subtipos de ictus isquémicos fueron: arteriopatía de gran vaso 12.3%, cardioembolismo 7.5%, oclusión de pequeña arteria 11.5%, otra etiología definida 27.1% y etiología indeterminada 41.6%. Los factores de riesgo vascular son muy frecuentes en los adultos jóvenes con ictus. Nuestros hallazgos subrayan que se requieren estrategias urgentes para la prevención primaria y secundaria del ictus en este grupo particular de pacientes en nuestro país.
Asunto(s)
Humanos , Masculino , Adulto , Adulto Joven , Isquemia Encefálica/etiología , Isquemia Encefálica/epidemiología , Ataque Isquémico Transitorio , Accidente Cerebrovascular/epidemiología , Hipertensión/complicaciones , Hipertensión/epidemiología , Argentina/epidemiología , Estudios Prospectivos , Factores de Riesgo , Accidente Cerebrovascular/etiologíaRESUMEN
According to reports from the literature,1,2 depending on the location where cavernomas appear, range from the very common locations to unusual. Cavernous malformations arising from the optic nerve and chiasm are rare, with only few cases reported to date.3-5 We present a case of a 28-yr-old man who suddenly started with sever visual loss in the right eye and homonymous lateral hemianopia in the left eye. Because of the acute symptomatology, a brain MRI was immediately performed in order to diagnose the etiology. The MRI showed a chiasmatic mass with right extension, heterogeneous on T1 and T2 sequences, without enhancement after gadolinium. The surgery was carried out a week after the diagnosis. A right pterional transsylvian approach was performed and the cavernoma was resected with microsurgical maneuvers, preserving the optic nerve fibers, chiasm, and optic tract. The patient evolved favorably, improving the visual deficit in the postoperative period as can be observed in the postoperative visual field study 7 mo after the surgery. The patient signed an informed consent for the procedure and agreed with the use of his images and surgical video for research and academic purposes. Our surgical case emphasizes the importance of a prompt diagnosis and surgery for chiasmatic cavernomas3 associated to visual loss, providing early decompression of the optic apparatus and improvement of the visual field defects after surgery.
Asunto(s)
Hemangioma Cavernoso , Hemianopsia/etiología , Humanos , Imagen por Resonancia Magnética , Masculino , Nervio Óptico , Trastornos de la Visión/etiología , Trastornos de la Visión/cirugíaRESUMEN
Resumen El tumor fibroso solitario/ hemangiopericitoma (TFS/HP) es un tumor extraaxial de origen mesenquimático de infrecuente observación, que usualmente se confunde con el meningioma, del cual puede ser clínica y radiológicamente indistinguible. El análisis molecular con la detección de la expresión nuclear STAT6 (signal transducer and activator of transcription 6) o la fusión NAB2-STAT6 (NGFI-A binding protein 2) es recomendable para confirmar el diagnóstico. Presentamos 3 casos clínicos, 2 mujeres y 1 varón, con diagnóstico anatomopatológico de meningioma meningotelial en el primer caso; y los casos 2 y 3 con sospecha radiológica de meningioma. La revisión anatomopatológica con estudio molecular permitió certificar el diagnóstico de TFS/ HP. Para el diagnóstico diferencial entre TFS/HP meníngeo y meningioma, se recomienda buscar la expresión de STAT6 como primer paso o la fusión NAB2-STAT6. La revisión de las muestras de biopsia debe estar garantizada en todos los pacientes, inclusive en aquellas que fueron estudiadas en Servicios de Patología Nivel 3.
Abstract The solitary fibrous tumor/ hemangiopericytoma (TFS/HP) is a rare mesenchymal extraaxial tumour. TFS/HP can sometimes be difficult to distinguish from other extra-axial tumors like meningioma, which can be clinically and radiologically indistinguishable. Molecular analysis with STAT6 (signal transducer and activator of transcription 6) nuclear expression or NAB2-STAT6 (NGFI-A binding protein 2) fusion is recommended to confirm the diagnosis. We present 3 cases, 2 women and 1 male, with pathological diagnosis of meningothelial meningioma in the first case; cases 2 and 3 with radiological suspicion of meningioma. The pathological review with molecular study certified the diagnosis of TFS/HP. For differential diagnosis between meningeal TFS/HP and meningioma, it is recommended to look for STAT6 expression as a first step, or NAB2-STAT6 fusion in order to confirm TFS/HP. The review of biopsy samples must be guaranteed in all patients, including those who were studied in Pathology Services Level 3.
Asunto(s)
Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Tumores Fibrosos Solitarios/diagnóstico , Hemangiopericitoma/diagnóstico , Neoplasias Meníngeas/diagnóstico por imagen , Biomarcadores de Tumor , Diagnóstico DiferencialRESUMEN
The solitary fibrous tumor/ hemangiopericytoma (TFS/HP) is a rare mesenchymal extraaxial tumour. TFS/HP can sometimes be difficult to distinguish from other extra-axial tumors like meningioma, which can be clinically and radiologically indistinguishable. Molecular analysis with STAT6 (signal transducer and activator of transcription 6) nuclear expression or NAB2-STAT6 (NGFI-A binding protein 2) fusion is recommended to confirm the diagnosis. We present 3 cases, 2 women and 1 male, with pathological diagnosis of meningothelial meningioma in the first case; cases 2 and 3 with radiological suspicion of meningioma. The pathological review with molecular study certified the diagnosis of TFS/HP. For differential diagnosis between meningeal TFS/HP and meningioma, it is recommended to look for STAT6 expression as a first step, or NAB2-STAT6 fusion in order to confirm TFS/HP. The review of biopsy samples must be guaranteed in all patients, including those who were studied in Pathology Services Level 3.
El tumor fibroso solitario/ hemangiopericitoma (TFS/HP) es un tumor extraaxial de origen mesenquimático de infrecuente observación, que usualmente se confunde con el meningioma, del cual puede ser clínica y radiológicamente indistinguible. El análisis molecular con la detección de la expresión nuclear STAT6 (signal transducer and activator of transcription 6) o la fusión NAB2-STAT6 (NGFI-A binding protein 2) es recomendable para confirmar el diagnóstico. Presentamos 3 casos clínicos, 2 mujeres y 1 varón, con diagnóstico anatomopatológico de meningioma meningotelial en el primer caso; y los casos 2 y 3 con sospecha radiológica de meningioma. La revisión anatomopatológica con estudio molecular permitió certificar el diagnóstico de TFS/HP. Para el diagnóstico diferencial entre TFS/HP meníngeo y meningioma, se recomienda buscar la expresión de STAT6 como primer paso o la fusión NAB2-STAT6. La revisión de las muestras de biopsia debe estar garantizada en todos los pacientes, inclusive en aquellas que fueron estudiadas en Servicios de Patología Nivel 3.
Asunto(s)
Hemangiopericitoma , Neoplasias Meníngeas , Tumores Fibrosos Solitarios , Adulto , Biomarcadores de Tumor , Diagnóstico Diferencial , Femenino , Hemangiopericitoma/diagnóstico , Humanos , Masculino , Neoplasias Meníngeas/diagnóstico por imagen , Persona de Mediana Edad , Tumores Fibrosos Solitarios/diagnósticoRESUMEN
La Clasificación de Tumores del Sistema Nervioso Central de la OMS 2016 incorpora biomarcadores moleculares junto a las características histológicas clásicas, en un diagnóstico integrado, con el fin de definir distintas entidades de gliomas con la mayor precisión posible. Los estudios de perfiles moleculares en el genoma han revelado las alteraciones genéticas características y los perfiles epigenéticos asociados con diferentes tipos de gliomas. Estas características moleculares pueden usarse para refinar la clasificación del glioma, mejorar la predicción de los resultados obtenidos con los tratamientos actuales y futuros en los pacientes, y como guía de un tratamiento personalizado. Asimismo, tener una aproximación pronóstica en cada paciente. Este cambio de paradigma ha modificado la forma en que se diagnostica el glioma y sus implicancias en la práctica diaria en la indicación de los diferentes tratamientos al paciente. Aquí, sintéticamente, revisamos y destacamos los biomarcadores moleculares clínicamente relevantes. Intentamos dejar plasmado cómo los avances en la genética molecular de los gliomas pueden promover y allanar el camino hacia la medicina de precisión en neurooncología.
The Classification of Tumors of the Central Nervous System of the WHO 2016 incorporates molecular biomarkers together with the classical histological characteristics, in an integrated diagnosis, in order to define different glioma entities with the highest possible accuracy. Studies of molecular profiles in the genome have revealed characteristic genetic alterations and epigenetic profiles associated with different types of gliomas. These molecular characteristics can be used to refine the classification of gliomas, improve the prediction of the results obtained with current and future treatments in patients and as a guide for a personalized treatment. Also, have a prognostic approach in each patient. This paradigm shift has modified the way glioma is diagnosed and its implications in daily practice in the indication of different treatments to the patient. Here, synthetically, we review and highlight clinically relevant molecular biomarkers. We try to capture how advances in the molecular genetics of gliomas can promote and pave the way to precision medicine in neuro-oncology.
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Humanos , Glioma , Biomarcadores , Sistema Nervioso Central , Biología Molecular , NeoplasiasRESUMEN
BACKGROUND: Fabry disease (FD) is an underdiagnosed cause of stroke in young adults, but the frequency of this association is largely unknown. We estimated the prevalence of FD in a nationwide cohort of young adults who had stroke and transient ischemic attack (TIA) in Argentina. METHODS: This was a prospective, multicenter study of stroke and FD in young adults (18-55 years) conducted in Argentina between 2011 and 2015. Patients were enrolled if they had had a TIA or an ischemic or hemorrhagic stroke within the previous 180 days. FD was diagnosed by measuring α-galactosidase A activity (males) and through genetic studies (females). RESULTS: We enrolled 311 patients (54% men, mean age: 41 years). Ischemic events occurred in 89% of patients (80% infarcts, 9% TIA) and hemorrhagic strokes in 11%. One female (.3% of the total group, 1% of the cryptogenic ischemic strokes) had the pathogenic mutation c.888G>A/p.Met296Ile /Exon 6 on the GAL gene. Her only other manifestation of FD was angiokeratoma. Eighteen females had nonpathogenic intronic variations: c.-10C>T, c.-12G>A, or both. Two patients had the nonpathogenic mutation D313Y, while a third had the likely benign mutation S126G. CONCLUSIONS: FD was identified in 1 patient (.3%) in this first Latin American study. The patient presented with a late-onset oligo-symptomatic form of the disease. A large number of nonpathogenic mutations were present in our cohort, and it is essential that they not be mistaken for pathogenic mutations to avoid unnecessary enzyme replacement treatment.
Asunto(s)
Hemorragia Cerebral/epidemiología , Enfermedad de Fabry/epidemiología , Ataque Isquémico Transitorio/epidemiología , Accidente Cerebrovascular/epidemiología , Adolescente , Adulto , Edad de Inicio , Argentina/epidemiología , Hemorragia Cerebral/diagnóstico , Análisis Mutacional de ADN , Enfermedad de Fabry/diagnóstico , Enfermedad de Fabry/genética , Femenino , Predisposición Genética a la Enfermedad , Humanos , Ataque Isquémico Transitorio/diagnóstico , Masculino , Persona de Mediana Edad , Mutación , Fenotipo , Prevalencia , Estudios Prospectivos , Factores de Riesgo , Accidente Cerebrovascular/diagnóstico , Factores de Tiempo , Adulto Joven , alfa-Galactosidasa/genéticaRESUMEN
Positron emission tomography (PET) with 11C-methionine (11C-methionine PET/CT) is a new technique used to evaluate primary central nervous system (CNS) tumors. We describe our experience regarding the first 4 patients with glial tumors and 11C-methionine PET/CT. This is a descriptive, observational and prospective study of 4 patients between 38-50 years of age, with different gliomas (WHO classification). MRI and 11C-methionine PET/CT were performed in all cases. Case 1, gliomatosis cerebri grade II post-radiotherapy. Case 2, oligodendroglioma grade II diagnosed and treated with radiotherapy in 1993. Case 3, glioblastoma grade IV post-radiotherapy + temozolomide. Case 4, anaplastic oligoastrocytoma grade III post-radiotherapy + temozolomide. The pattern of 11C-methionine uptake compared with MRI showed tumor progression in cases 1, 3 and 4, and in case 2 showed uptake although the final diagnosis was pseudoprogression. Unlike 18fluordeoxiglucose PET/TC, 11C-methionine uptake in normal brain tissue and pseudoprogression is low, and gliomas are displayed as metabolically active areas. The 11C-methionine PET/CT provided valuable information on the tumoral behavior and extension, although in one case presented did not differentiate tumor progression from pseudoprogression. 11C-methionine PET/CT could be a useful tool in the study and follow-up to patients with gliomas.
Asunto(s)
Neoplasias Encefálicas/diagnóstico por imagen , Glioma/diagnóstico por imagen , Metionina , Imagen Multimodal/métodos , Tomografía de Emisión de Positrones/métodos , Radiofármacos , Adulto , Astrocitoma/diagnóstico por imagen , Astrocitoma/patología , Neoplasias Encefálicas/patología , Femenino , Gliosarcoma/diagnóstico por imagen , Gliosarcoma/patología , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Tomografía Computarizada por Rayos X/métodosRESUMEN
La tomografía por emisión de positrones con metionina carbono 11 (11C-metionina PET/TC) se utiliza en la evaluación de los tumores primarios del sistema nervioso central. Describimos nuestra experiencia sobre los primeros 4 pacientes con tumores de la serie glial estudiados con 11C-metionina PET/TC. Este es un estudio descriptivo, observacional y prospectivo. Se presentan 4 pacientes entre 38-50 años de edad con diagnóstico de gliomas (clasificación de la OMS). A todos se les realizó RM y 11C-metionina PET/TC para evaluar actividad tumoral y diferenciar progresión tumoral de pseudoprogresión. Caso 1, gliomatosis cerebri grado II posradioterapia. Caso 2, glioblastoma grado IV postratamiento RT + temozolomida. Caso 3, oligodendroglioma grado II posradioterapia en 1993. Caso 4, oligoastrocitoma anaplásico grado III postratamiento RT + temozolomida. El patrón de captación de la 11C-metionina comparativamente con la RM, demostró progresión tumoral en los casos 1, 3 y 4; en el caso 2 mostró captación aunque el diagnóstico final fue pseudoprogresión. A diferencia del PET con 18fluordeoxiglucosa, la captación de 11C-metionina en el tejido cerebral normal y en la pseudoprogresión es baja, y los gliomas se visualizan como áreas metabólicamente activas. En los casos presentados, el 11C-metionina PET/TC proveyó información valiosa sobre el comportamiento y extensión de la lesión, aunque en uno de los casos presentados no diferenció progresión tumoral de pseudoprogresión. El 11C-metionina PET/TC sería una herramienta útil en el estudio y seguimiento de los pacientes con gliomas.
Positron emission tomography (PET) with 11C-methionine (11C-methionine PET/CT) is a new technique used to evaluate primary central nervous system (CNS) tumors. We describe our experience regarding the first 4 patients with glial tumors and 11C-methionine PET/CT. This is a descriptive, observational and prospective study of 4 patients between 38-50 years of age, with different gliomas (WHO classification). MRI and 11C-methionine PET/CT were performed in all cases. Case 1, gliomatosis cerebri grade II post-radiotherapy. Case 2, oligodendroglioma grade II diagnosed and treated with radiotherapy in 1993. Case 3, glioblastoma grade IV post-radiotherapy + temozolomide. Case 4, anaplastic oligoastrocytoma grade III post-radiotherapy + temozolomide. The pattern of 11C-methionine uptake compared with MRI showed tumor progression in cases 1, 3 and 4, and in case 2 showed uptake although the final diagnosis was pseudoprogression. Unlike 18fluordeoxiglucose PET/TC, 11C-methionine uptake in normal brain tissue and pseudoprogression is low, and gliomas are displayed as metabolically active areas. The 11C-methionine PET/CT provided valuable information on the tumoral behavior and extension, although in one case presented did not differentiate tumor progression from pseudoprogression. 11C-methionine PET/CT could be a useful tool in the study and follow-up to patients with gliomas.
Asunto(s)
Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neoplasias Encefálicas , Glioma , Metionina , Imagen Multimodal/métodos , Tomografía de Emisión de Positrones/métodos , Radiofármacos , Astrocitoma/patología , Astrocitoma , Neoplasias Encefálicas/patología , Gliosarcoma/patología , Gliosarcoma , Estudios Prospectivos , Tomografía Computarizada por Rayos X/métodosRESUMEN
Disease-specific aquaporin-4 antibodies (NMO-IgG) are the main effector of lesions in neuromyelitis optica (NMO) patients. Brain MRI lesions are detected in 60% of them, with 8% (almost infants) at sites of high aquaporin-4 expression. Patient 1: A fifty-year-old male with loss of vision in the right eye. Empiric treatment with metilprednisolone 1g/d for 3 days was indicated. After 30 days he complained of generalized pain, and a right hemiparesis was evident. The patient received bolus of metilprednisolone 1g/d for 5 days plus IgG 400 mg/kg/d IV for 5 days. He recovered ambulation but persisted with pain and paroxysmal phenomena (Lhermitte). Visual Evoked Potentials (VEP): P100 left eye 123 ms, right eye without response. Brain MRI (FLAIR) showed hyperintensity in the right optic nerve, hypothalamus and anterior white commissure. Cervical MRI showed extensive spinal cord lesion to an extension of 5 vertebral bodies. Patient 2: A fifty-three-year-old female who referred decreased visual acuity in both eyes and paresthesia in lower limbs which subsided spontaneously. One month later the patient evolved with cuadriparesis and sphincter incontinence. No improvement was observed with bolus of metilprednisolone 1g/d for 5 day. VEP: P100 left eye 124 ms, right eye 128 ms. Brain MRI (FLAIR) disclosed hypothalamic and periaqueductal hyperintensity. Cervical MRI showed extensive spinal cord lesion to an extension of 7 vertebral bodies. NMO-IgG antibodies were positive in both patients (indirect immunofluorescence assay). NMO brain lesions at sites of high aquaporin-4 expression, once considered atypical for their topography and infrequency in adults, should be borne in mind when considering differential diagnosis.
Asunto(s)
Acuaporina 4/sangre , Autoanticuerpos/sangre , Encéfalo/patología , Neuromielitis Óptica/patología , Acuaporina 4/inmunología , Biomarcadores/sangre , Femenino , Técnica del Anticuerpo Fluorescente Indirecta , Humanos , Inmunoglobulina G/sangre , Imagen por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Neuromielitis Óptica/inmunología , Médula Espinal/patologíaRESUMEN
La presencia de anticuerpos IgG en suero, con blanco en los canales de acuaporina-4, es específica de la neuromielitis óptica (NMO). El 60% de los pacientes con NMO presentan lesiones cerebrales en la resonancia magnética (RM); en un 8% (mayoría niños) estas lesiones se consideraron "atípicas". Presentamos dos pacientes con NMO y lesiones en el SNC de alta expresión de acuaporina-4. Caso 1: varón de 50 años, que comenzó con pérdida de visión en ojo derecho (OD). Recibió tratamiento empírico con metilprednisolona 1 g/d x 3 días. Al mes presentó dolor generalizado y hemiparesia derecha; nuevamente recibió metilprednisolona 1 g/d x 5 días e IgG IV 400 mg/kg/d × 5 días. Recuperó la deambulación persistiendo el dolor y fenómenos paroxísticos en los 4 miembros. Potenciales evocados visuales: P100, ojo izquierdo (OI) 123 mseg. OD sin respuesta. La RM de cerebro (FLAIR) mostró hiperintensidad en nervio óptico derecho, hipotálamo y comisura blanca anterior. RM cervical: lesión medular extensa (5 cuerpos vertebrales). Caso 2: mujer de 53 años, con disminución de la agudeza visual en ambos ojos y parestesias en miembros inferiores que remitieron espontáneamente. Evolucionó al mes con cuadriparesia e incontinencia esfinteriana. Recibió metilprednisolona 1 g/d x 5 días, sin mejoría. Potenciales evocados visuales: P100 OI 124 mseg. OD 128 mseg. RM cerebro: (FLAIR) hiperintensidad hipotalámica y periacueductal. RM cervical: lesión medular extensa (7 cuerpos vertebrales). Anticuerpos anti-acuaporina-4 positivos en ambos pacientes (inmunofluorescencia indirecta). Las lesiones consideradas "atípicas", como aquí, en sitios con alta densidad de proteínas canales de agua AQP4 deberán considerarse para el diagnóstico diferencial.
Disease-specific aquaporin-4 antibodies (NMO-IgG) are the main effector of lesions in neuromyelitis optica (NMO) patients. Brain MRI lesions are detected in 60% of them, with 8% (almost infants) at sites of high aquaporin-4 expression. Patient 1: A fifty-year-old male with loss of vision in the right eye. Empiric treatment with metilprednisolone 1g/d for 3 days was indicated. After 30 days he complained of generalized pain, and a right hemiparesis was evident. The patient received bolus of metilprednisolone 1g/d for 5 days plus IgG 400 mg/kg/d IV for 5 days. He recovered ambulation but persisted with pain and paroxysmal phenomena (Lhermitte). Visual Evoked Potentials (VEP): P100 left eye 123 ms, right eye without response. Brain MRI (FLAIR) showed hyperintensity in the right optic nerve, hypothalamus and anterior white commissure. Cervical MRI showed extensive spinal cord lesion to an extension of 5 vertebral bodies. Patient 2: A fifty-three-year-old female who referred decreased visual acuity in both eyes and paresthesia in lower limbs which subsided spontaneously. One month later the patient evolved with cuadriparesis and sphincter incontinence. No improvement was observed with bolus of metilprednisolone 1g/d for 5 day. VEP: P100 left eye 124 ms, right eye 128 ms. Brain MRI (FLAIR) disclosed hypothalamic and periaqueductal hyperintensity. Cervical MRI showed extensive spinal cord lesion to an extension of 7 vertebral bodies. NMO-IgG antibodies were positive in both patients (indirect immunofluorescence assay). NMO brain lesions at sites of high aquaporin-4 expression, once considered "atypical" for their topography and infrequency in adults, should be borne in mind when considering differential diagnosis.
Asunto(s)
Femenino , Humanos , Masculino , Persona de Mediana Edad , /sangre , Autoanticuerpos/sangre , Encéfalo/patología , Neuromielitis Óptica/patología , /inmunología , Biomarcadores/sangre , Técnica del Anticuerpo Fluorescente Indirecta , Inmunoglobulina G/sangre , Imagen por Resonancia Magnética/métodos , Neuromielitis Óptica/inmunología , Médula Espinal/patologíaRESUMEN
El síndrome de Frey (SF) se caracteriza por rubor, calor y sudación en la región maseterina y geniana durante las comidas. El SF se observa en el 20-60% de los pacientes sometidos a parotidectomía. Presentamos un caso con SF secundario a la ablación de la glándula submaxilar en un varón de 30 años de edad, sin antecedentes patológicos, que consultó en el año 2000 por adenopatía cervical izquierda. La misma fue biopsiada y la anatomía patológica informó carcinoma medular de tiroides. El paciente presentaba múltiples metástasis hepáticas y pulmonares, motivo por el cual recibió tratamiento quimioterápico con cisplatino plus doxorrubicina (seis ciclos) con respuesta completa, finalizando dicho esquema en marzo del 2002. En julio del 2002 se realizó tiroidectomía total más vaciamiento ganglionar izquierdo con resección de la glándula submaxilar. Durante la cirugía se lesionó la rama mentoniana del nervio cervicofacial, rama del VII par craneal. En septiembre del 2004 consultó por episodios de sudación durante las comidas en la región submaxilar izquierda. Se realizó prueba de Minor y luego se procedió a aplicar toxina botulínica tipo A en la región afectada, a razón de 2.5 UI por punto (cm2), a un total de 17 puntos. El control a los 21 días demostró más de un 95% de efectividad en la resolución del SF. El efecto duró un año, y una segunda reinfiltración mostró similar respuesta. No hallamos descripciones anteriores de SF en región submaxilar; se presenta su tratamiento satisfactorio con toxina botulínica tipo A.
A case of Frey syndrome (FS) secondary to submaxillar gland exeresis is presented and the results of the treatment with botulinum toxin (BTX) type A. FS is a condition of sweating cheek and preauricular area during mealtime as a sequel detected in about 20-60% of patients after parotidectomy. The clinical symptoms include swelling, flushing and hyperhidrosis. The treatment choice for this condition is intracutaneous injection of BTX type A which blocks acetylcholine release at the sweat glands. A 30-year-old man, with thyroid medullar carcinoma diagnosed in 2002 received 6 cicles of cisplatin plus doxorubicin previous to the thyroidectomy with anterolateral neck dissection. During surgery the left ramus marginalis mandibulae was damaged. Two years later the patient referred sweating in submaxillar region during meals. CT scan demonstrated the absence of left submaxillar gland. Minor's test disclosed the affected area and BTX type A was injected (2.5 U/cm2/17 points). A twenty-one-day control showed a 95% reduction of the affected skin area. Persistent efficacy was observed up to one year followup time when he was reinjected. The FS, also known as "gustatory hyperhidrosis", was probably first reported by M. Duphenix in 1757. Lucja Frey considered its physiopathology as a disorder of both sympathetic and parasympathetic innervation. In our case the FS was caused by a misdirected regeneration of postganglionic parasympathetic nerve fibers that arrised from the nervus lingualis rami ganglionares of the nervus trigeminus. After nerve injury the colinergic parasympathetic fibers seek out colinergic receptors -sympathetic receptors of the skin- innervating sweat glands and small skin vessels. All previous cases were located at masseter region post-parotidectomy. We have not found any description of FS in the submaxillary region. The self-assessed efficacy of the treatment with a hyperhidrosis disease severity scale revealed a very satisfied patient at 20 months follow-up after being injected twice with BTX type A.
Asunto(s)
Humanos , Masculino , Adulto , Toxinas Botulínicas Tipo A/uso terapéutico , Fármacos Neuromusculares/uso terapéutico , Complicaciones Posoperatorias , Glándula Submandibular/cirugía , Sudoración Gustativa/tratamiento farmacológico , Sudoración Gustativa/etiología , Maxilar , Glándula Parótida/cirugíaRESUMEN
Current laws and regulations concerning epilepsy patients and driving exist in different countries all over the world. Patient's seizure-free intervals, physician's responsibilities, type of seizures and other requirements make these laws and regulations vary from country to country and even from state to state in the same country. In Argentina, in law No. 24.449, Decree Regulation No. 779/95, article 33 on Physical Aptitude, epilepsy is included, and the NE02 code "bans" anyone with epilepsy from being licensed; while NE03 "bans" anyone with an abnormal electroencephalogram. Based on laws from Argentina and foreign countries regarding driving and other issues that concern people with epilepsy, we propose that: 1) Physicians must counsel patients on their responsibilities over their disease and driving, and document on the medical record that this has been done. 2) Patients must take 1-year seizure-free period before being licensed again. 3) Patients are compelled to an annual medical update and to disclose the antiepileptic drugs (AED's) they are taking. 4) Driving restriction for patients having their AED's reduced or switched, during that period and up to six-months after finishing the process. 5) Doctors are not obliged to report to the State cases with seizures or epilepsy. 6) In paragraph "Neurological Aptitudes Criteria", about NE02 and NE03 Codes, the expression "inept" should be switched to "to be evaluated". 7) Ban a person with any history of seizure or epilepsy from being licensed to drive school buses, trucks and public transportation. These changes in our regulations will have the following advantages: 1) An increase in the number of reports to Motor Vehicle Authorities. 2) An improvement of the clinical/neurological controls. 3) They also will avoid, in great proportion, seizure-related motor vehicle crashes and property damage. 4) The up-dating of our laws/regulations/codes. 5) Not only because of medical, but also for its legal and social implications: a) protect physicians from being drawn into the legal foray, b) epileptic patients are legally protected, c) increase the security in the streets and therefore in our community.
Asunto(s)
Conducción de Automóvil , Epilepsia , Accidentes de Tránsito/prevención & control , Argentina , Examen de Aptitud para la Conducción de Vehículos/legislación & jurisprudencia , Conducción de Automóvil/legislación & jurisprudencia , Conducción de Automóvil/normas , Epilepsia/complicaciones , Epilepsia/fisiopatología , Humanos , Factores de RiesgoAsunto(s)
Lupus Eritematoso Sistémico/epidemiología , Lupus Eritematoso Sistémico/psicología , Adulto , Femenino , Humanos , Lupus Eritematoso Sistémico/tratamiento farmacológico , Vasculitis por Lupus del Sistema Nervioso Central/tratamiento farmacológico , Vasculitis por Lupus del Sistema Nervioso Central/epidemiología , Vasculitis por Lupus del Sistema Nervioso Central/psicología , PrevalenciaRESUMEN
CADASIL disease (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) was described in 1991 by Tourmier-Lasserve. Two years later the same authors described its association with chromosome 19; nonetheless, the mutations in gene Notch3 were not described until 1996. Clinical findings depend on the age at onset. The early form of the illness is found in young patients, generally less than 30 years old, and the main clinical manifestation is a migraine headache with subcortical lesions in the white matter, while in the later form ischemic events and behavioral symptoms are predominant. Anatomo-pathological findings in CADASIL include the presence of osmophilic granular deposits in vessel walls, skin, muscles and cerebral arteries. We present a patient with CADASIL and cavernous angioma. We studied a 40-year-old woman who underwent surgery for a left temporal-parietal cavernous angioma, with aphasia as the only symptom, two years before admission. Her family history showed that her father had suffered from vascular dementia. She was admitted to our hospital with right-side hemiparesis and dysarthria. A CT scan showed the presence of ischemic vascular lesions and former surgery sequelae. The duplex scan of the neck vessels and a transesophageal echocardiogram ruled out an embolic source. Laboratory tests including VDRL, HIV, prothrombotic profile and rheumatologic screening tests were normal. An MRI in T2W and FLAIR showed the presence of multiple subcortical cerebral lesions and hyperintensity in the white matter (leukoencephalopaty). We found a left acute putaminal-capsular infarct in the diffusion-MRI. The MRA was normal. Analysis of the cerebrospinal fluid was unremarkable. A molecular DNA test was performed, and a nucleotide substitution in position 583 in exon 4 of gene Notch3 was detected. This mutation was found only in CADASIL patients. The association with cavernous angioma has not been previously reported, and we believe that it was unrelated to CADASIL, either clinically or genetically. To our knowledge, this is the first case of CADASIL diagnosed by molecular DNA test in our country.
Asunto(s)
Demencia por Múltiples Infartos/diagnóstico , Adulto , Análisis Mutacional de ADN , Demencia por Múltiples Infartos/complicaciones , Demencia por Múltiples Infartos/genética , Femenino , Hemangioma Cavernoso/complicaciones , Humanos , Espectroscopía de Resonancia Magnética , Mutación Puntual/genéticaRESUMEN
CADASIL include the presence of osmophilic granulateriopathy with Subcortical Infarcts and Leukoencephalopathy) was described in 1991 by Tourmier-Lasserve. Two years later the same authors described its association with chromosome 19; nonetheless, the mutations in gene Notch3 were not described until 1996. Clinical findings depend on the age at onset. The early form of the illness is found in young patients, generally less than 30 years old, and the main clinical manifestation is a migraine headache with subcortical lesions in the white matter, while in the later form ischemic events and behavioral symptoms are predominant. Anatomo-pathological findings in CADASIL include the presence of osmophilic granular deposits in vessel walls, skin, muscles and cerebral arteries. We present a patient with CADASIL and cavernous angioma. We studied a 40-year-old woman who underwent surgery for a left temporal-parietal cavernous angioma, with aphasia as the only symptom, two years before admission. Her family history showed that her father had suffered from vascular dementia. She was admitted to our hospital with right-side hemiparesis and dysarthria. A CT scan showed the presence of ischemic vascular lesions and former surgery sequelae. The duplex scan of the neck vessels and a transesophageal echocardiogram ruled out an embolic source. Laboratory tests including VDRL, HIV, prothrombotic profile and rheumatologic screening tests were normal. An MRI in T2W and FLAIR showed the presence of multiple subcortical cerebral lesions and hyperintensity in the white matter (leukoencephalopaty). We found a left acute putaminal-capsular infarct in the diffusion-MRI. The MRA was normal. Analysis of the cerebrospinal fluid was unremarkable. A molecular DNA test was performed, and a nucleotide substitution in position 583 in exon 4 of gene Notch3 was detected. This mutation was found only in CADASIL patients. The association with cavernous angioma has not been previously reported, and we believe that it was unrelated to CADASIL, either clinically or genetically. To our knowledge, this is the first case of CADASIL diagnosed by molecular DNA test in our country.