RESUMO
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Assuntos
Humanos , Masculino , Adulto , Dor Lombar/etiologia , Vértebras Lombares/anormalidades , Doenças da Coluna Vertebral , Diagnóstico DiferencialRESUMO
La esclerosis tuberosa (ET), también llamada enfermedad de Pringle Bourneville, es una facomatosis con posible afectación dérmica, neurológica, renal y pulmonar. Se caracteriza por el desarrollo de proliferaciones benignas en numerosos órganos, que dan lugar a las diferentes manifestaciones clínicas. Se asocia a la mutación de 2 genes: TSC1 (hamartina) y TSC2 (tuberina), con la alteración funcional del complejo diana de la rapamicina (mTOR). La activación de la señal mTOR ha sido descrita recientemente en el lupus eritematoso sistémico (LES), y su inhibición podría resultar beneficiosa en pacientes con nefritis lúpica. Presentamos el caso de una paciente que 30 años después del inicio de LES con afectación renal grave (glomerulonefritis tipo IV), resuelta con pulsos intravenosos de ciclofosfamida, comenzó con manifestaciones clínicas del complejo esclerosis tuberosa (CET). Consideramos de interés la coexistencia de estas 2 entidades, ya que solo hemos encontrado 2 casos similares en la literatura (AU)
Tuberous sclerosis, also called Bourneville Pringle disease, is a phakomatosis with potential dermal, nerve, kidney and lung damage. It is characterized by the development of benign proliferations in many organs, which result in different clinical manifestations. It is associated with the mutation of two genes: TSC1 (hamartin) and TSC2 (tuberin), with the change in the functionality of the complex target of rapamycin (mTOR). MTOR activation signal has been recently described in systemic lupus erythematosus (SLE) and its inhibition could be beneficial in patients with lupus nephritis. We report the case of a patient who began with clinical manifestations of tuberous sclerosis complex (TSC) 30 years after the onset of SLE with severe renal disease (tipe IV nephritis) who improved after treatment with iv pulses of cyclophosphamide. We found only two similar cases in the literature, and hence considered the coexistence of these two entities of great interest (AU)
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Esclerose Tuberosa/complicações , Esclerose Tuberosa/patologia , Esclerose Tuberosa , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/imunologia , Lúpus Eritematoso Sistêmico/patologia , Sirolimo/uso terapêutico , Histiocitoma Fibroso Benigno/complicações , Histiocitoma Fibroso Benigno/epidemiologia , Histiocitoma Fibroso Benigno/imunologia , Síndromes Neurocutâneas/complicações , Lúpus Eritematoso Sistêmico , Sistemas de Liberação de Medicamentos/métodos , Biópsia/métodos , Angiofibroma/complicações , Angiofibroma/patologiaRESUMO
Tuberous sclerosis, also called Bourneville Pringle disease, is a phakomatosis with potential dermal, nerve, kidney and lung damage. It is characterized by the development of benign proliferations in many organs, which result in different clinical manifestations. It is associated with the mutation of two genes: TSC1 (hamartin) and TSC2 (tuberin), with the change in the functionality of the complex target of rapamycin (mTOR). MTOR activation signal has been recently described in systemic lupus erythematosus (SLE) and its inhibition could be beneficial in patients with lupus nephritis. We report the case of a patient who began with clinical manifestations of tuberous sclerosis complex (TSC) 30 years after the onset of SLE with severe renal disease (tipe IV nephritis) who improved after treatment with iv pulses of cyclophosphamide. We found only two similar cases in the literature, and hence considered the coexistence of these two entities of great interest.
Assuntos
Lúpus Eritematoso Sistêmico/complicações , Esclerose Tuberosa/complicações , Feminino , Humanos , Lúpus Eritematoso Sistêmico/diagnóstico , Pessoa de Meia-Idade , Esclerose Tuberosa/diagnósticoRESUMO
Introducción. El síndrome de hipotensión intracraneal (SHI) es un síndrome de etiología y presentación clínica variable, causada, en la mayoría de casos, por fuga de líquido cefalorraquídeo a través del saco tecal. La cefalea ortostática asociada a los hallazgos típicos en resonancia magnética (RM), secundarios a la depleción del líquido cefalorraquídeo, constituye a clave para el diagnóstico. Objetivo. Mostrar los hallazgos radiológicos que en un contexto clínico adecuado permiten identificar y diagnosticar esta entidad. Desarrollo. La disminución del volumen del líquido cefalorraquídeo desempeña un papel importante en el SHI, que lleva a un aumento del volumen de sangre compensatorio, fundamentalmente dependiente del sistema venoso. La RM es una técnica sensible en el diagnóstico del SHI. No obstante, los hallazgos por separado son inespecíficos. Entre los hallazgos en RM se encuentran el realce dural difuso y homogéneo, la presencia de pequeñas colecciones subdurales bilaterales, desplazamiento caudal de las estructuras encefálicas (pseudo-Chiari), dilatación de venas corticales y medulares, y el reciente signo de la distensión venosa. Este último signo constituye un hallazgo altamente sensible de SHI, que tiende adesaparecer tras la mejoría clínica del paciente incluso antes de la desaparición del realce paquimeníngeo, y que podría utilizarse como marcador de respuesta al tratamiento. Conclusión. El SHI es una entidad de difícil diagnóstico clínico en la que se han descrito hallazgos típicos en la RM con los que el neurólogo y el radiólogo deben estar familiarizados (AU)
Introduction. Intracranial hypotension syndrome (IHS) is a syndrome with a variable aetiology and clinical presentation that is, in most cases, caused by leakage of cerebrospinal fluid (CSF) through the thecal sac. Orthostatic headache associated to the typical magnetic resonance imaging (MRI) findings, secondary to depletion of CSF, is the key to a correct diagnosis. Aims. To show the imaging findings that, within a suitable clinical context, allow this condition to be identified and diagnosed. Development. Decreased CSF volume plays an important role in IHS, which leads to an increase in the compensatory volume of blood, essentially dependent on the venous system. MRI is a sensitive technique in the diagnosis of IHS. Yet, separate findings are unspecific. The MRI findings include diffuse and homogeneous dural enhancement, the presence of small bilateral subdural collections, caudal displacement of the encephalic structures (pseudo-Chiari), dilatation of thecortical and medullar veins, and the recent sign of venous distension. This last sign is a highly sensitive finding of IHS, which tends to disappear following the patients clinical improvement even before the disappearance of the pachymeningeal enhancement, and could be used as a marker for response to treatment. Conclusions. IHS is a condition that is difficult to diagnose clinically for which several typical MRI findings have been reported; both neurologists and radiologists must be familiar with these findings (AU)
Assuntos
Humanos , Hipotensão Intracraniana/diagnóstico , Imageamento por Ressonância Magnética/métodos , Cefaleia do Tipo Tensional/etiologia , Meningite/etiologiaRESUMO
The term hippocampal sclerosis was originally used to describe a shrunken and hardened hippocampus, which histologically displayed neuronal loss and glial proliferation. These alterations are mainly located in the hilus of the dentate gyrus and in the CA1 and CA3 pyramidal cell layers but all hippocampal regions may show neuronal cell loss to varying degrees. A number of morphologic and cytochemical findings are associated with mesial temporal sclerosis, especially within the dentate gyrus. These changes include selective loss of inhibitory interneurons, abnormal sprouting of axons, reorganization of neural transmitter receptors, alterations in second messenger systems, and hyperexcitability of the granule cells. Extrahippocampal pathology is also found at other temporal lobe structures. Frequent extrahippocampal pathology affects the amygdala, first seen with neuronal cell loss and gliosis in the laterobasal complex. Surgical removal of this epileptogenic area can be curative or provide significant reduction in seizure frequency in the majority of individuals. Magnetic resonance imaging (MRI) is highly sensitive in detecting and locating mesial temporal sclerosis when a correct MRI temporal lobe protocol is used. The most important MRI findings, atrophy and abnormal T2 signal, allow us to detect mesial temporal sclerosis in the majority of the cases. Secondary MRI findings help in the diagnosis and lateralization of mesial temporal sclerosis in patients with subtle primary findings and in cases of bilateral hippocampal abnormalities. The development of advanced magnetic resonance (MR) techniques, such as functional MR, diffusion, or transference of magnetization, will lead to greater understanding of this pathology and will improve our diagnostic capacity.
Assuntos
Epilepsia do Lobo Temporal/patologia , Hipocampo/patologia , Imageamento por Ressonância Magnética/métodos , Vias Neurais/patologia , Lobo Temporal/patologia , Tonsila do Cerebelo/patologia , Animais , Atrofia , Humanos , EscleroseRESUMO
Because of its different functions and organization, the temporal lobe may be divided into lateral and medial parts. This separation may be useful for teaching purposes, since the medial temporal lobe needs a separated and a more precise study because of its complex structure and because it is the substrate where some specific types of epilepsy originate. The use of certain magnetic resonance imaging (MRI) sequences and protocols has improved the diagnosis of some particular epilepsies, but this technical benefit must be accompanied by the accurate knowledge of the anatomy of the temporal lobe. With this purpose we have prepared this article, which highlights the ultastructural and macroanatomy of the temporal lobe seen on MRI.