Tumefactive Demyelination Lesions: Report on three cases.

PURPOSE: Tumefactive demyelination (TD) lesion and its subtype Balo's concentric sclerosis (BCS), are rare manifestations of central nervous system demyelinating disease. Because of its rarity, physicians might hesitate in reaching a diagnosis or initiating steroid pulse therapy. This study aims at pinpointing the key neuroimaging features to distinguish TD lesions from surgical conditions, and illustrating the clinical outcomes of patients with TD lesions. CASE REPORT: Two of the three patients had solitary TD lesions, one 47-year-old man presenting with newly onset seizure and another 54-year-old women suffering from progressive hemiparesis. The male patient underwent craniotomy for mass excision without further steroid therapy, while the female patient received methylprednisolone pulse therapy only. Both patients remained free of clinical and radiological relapses over the past 6-7 years, leading to the diagnosis of clinically isolated syndrome. The third case is a 30-year-old woman with subacute onset of dysarthria and hemiparesis. She had two BCS lesions along with other demyelinating lesions in the juxtacortical and periventricular regions, cerebellar peduncles, and spinal cord, fulfilling dissemination in time and space. Her neurological deficits resolved after pulse therapy, and she received long-term disease modifying therapy for multiple sclerosis. CONCLUSION: This study underscores the diverse neuroimaging and clinical presentations of patients with TD lesions, and emphasizes the importance of clinical vigilance regarding this rare condition.

[TUMOR-LIKE EFFECT AS INITIAL PRESENTATION OF PEDIATRIC MULTIPLE SCLEROSIS].

INTRODUCTION: In both children and adults, magnetic resonance imaging of the brain in cases of multiple sclerosis (MS) has typical indications, where one of the key points for differentiating between demyelinating processes and place-taking processes is the fact that most of the lesions that appear in multiple sclerosis do not cause a mass effect or much edema around them. There are several uncommon subtypes of multiple sclerosis that can appear specifically in adolescents, presenting with a stormy clinical course and accompanied by brain lesions that resemble space-occupying lesions. These include Marburg disease, Balò's concentric sclerosis, and tumefactive MS. These unusual presentations raise the question regarding the ability to distinguish between neoplastic and demyelinating processes. In this article we present two case studies that illustrate this diagnostic dilemma and an accompanying literature review.

Baló concentric sclerosis: Literature review and report of two cases.

BACKGROUND: Baló's concentric sclerosis (BCS) is a rare variant of multiple sclerosis characterized by unique pathological features of alternating demyelination and preserved myelin. OBJECTIVES: To describe two cases of BCS, radiological and pathological findings and its clinical course. RESULTS: We report two distinct cases of BCS that presented with unique MRI findings suggestive of BCS, but with different clinical courses and responses to treatment. The first case demonstrated substantial recovery following corticosteroid therapy, while the second case, initially suspected to be a malignant tumour, showed improvement after surgical intervention and immunoglobulin therapy. CONCLUSION: These cases highlight the variability in presentation and course of BCS, underscoring the challenges in diagnosis and the importance of considering BCS in the differential diagnosis of demyelinating and tumefactive lesions. The cases also emphasize the potential for favourable outcomes with appropriate management, challenging the traditional view of BCS as uniformly severe.

The NAD+ Precursor Nicotinamide Riboside Rescues Mitochondrial Defects and Neuronal Loss in iPSC derived Cortical Organoid of Alpers' Disease.

Alpers' syndrome is an early-onset neurodegenerative disorder usually caused by biallelic pathogenic variants in the gene encoding the catalytic subunit of polymerase-gamma (POLG), which is essential for mitochondrial DNA (mtDNA) replication. The disease is progressive, incurable, and inevitably it leads to death from drug-resistant status epilepticus. The neurological features of Alpers' syndrome are intractable epilepsy and developmental regression, with no effective treatment; the underlying mechanisms are still elusive, partially due to lack of good experimental models. Here, we generated the patient derived induced pluripotent stem cells (iPSCs) from one Alpers' patient carrying the compound heterozygous mutations of A467T (c.1399G>A) and P589L (c.1766C>T), and further differentiated them into cortical organoids and neural stem cells (NSCs) for mechanistic studies of neural dysfunction in Alpers' syndrome. Patient cortical organoids exhibited a phenotype that faithfully replicated the molecular changes found in patient postmortem brain tissue, as evidenced by cortical neuronal loss and depletion of mtDNA and complex I (CI). Patient NSCs showed mitochondrial dysfunction leading to ROS overproduction and downregulation of the NADH pathway. More importantly, the NAD+ precursor nicotinamide riboside (NR) significantly ameliorated mitochondrial defects in patient brain organoids. Our findings demonstrate that the iPSC model and brain organoids are good in vitro models of Alpers' disease; this first-in-its-kind stem cell platform for Alpers' syndrome enables therapeutic exploration and has identified NR as a viable drug candidate for Alpers' disease and, potentially, other mitochondrial diseases with similar causes.

Esclerosis concéntrica de Balo: una presentación que simula un ictus isquémico / Balo concentric sclerosis: a presentation mimicking ischaemic stroke

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Balo's concentric lesions with concurrent features of Schilder's disease in relapsing multiple sclerosis: neuropathological findings

Atypical inflammatory demyelinating syndromes are rare neurological diseases that differ from multiple sclerosis (MS), owing to unusual clinicoradiological and pathological findings, and poor responses to treatment. The distinction between them and the criteria for their diagnoses are poorly defined due to the lack of advanced research studies. Balo's concentric sclerosis (BCS) and Schilder's disease (SD) are two of these syndromes and can present as monophasic or in association with chronic MS. Both variants are difficult to distinguish when they present in acute stages. We describe an autopsy case of middle-aged female with a chronic history of MS newly relapsed with atypical demyelinating lesions, which showed concurrent features of BCS and SD. We also describe the neuropathological findings, and discuss the overlapping features between these two variants.

Enfermedad de Alpers juvenil / Juvenile Alpers disease

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Esclerose concêntrica de Baló: relato de caso / Balo's concentric sclerosis: case report

Objetivos: O caso descrito a seguir busca incentivar a suspeição do médicofrente a um provável diagnóstico de Esclerose Concêntrica de Baló (ECB). Métodos: Relato de caso associado à revisão da literatura científi ca a partir artigos publicados sobre o tema. Resultados: Há grande difi culdade na determinação da etiopatologia daECB, já que há amplas áreas de desmielinização do sistema nervoso central (SNC) que podem ser observadas em várias doenças neurológicas. A RNM faz grande suspeição diagnóstica, mas a confi rmação só é realmente obtida através de biópsia cerebral...

Goals: The case described forward search to motivate the medical suspicionin front of a probable diagnose of Balo’s Concentric Sclerosis (BCS) establishing a routine diagnostic. Methods: Case report with cientifi c review of articles published about the subject. Results: It is really diffi cult to determine the BCS’s etiology-fi siopathology because of thedifuse demyelinating’s areas of the central nervous system (CNS) that are seen in a variety of CNS’s diseases. Magnetic resonance (MR) is very important to the diagnosis of BCS, butthe diagnosis’s key is the brain biopsy. The therapy consists of high dose of steroidals being controled by magnetic resonance imaging...

Esclerosis concéntrica de Baló / Balo’s concentric sclerosis

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Pilizaeus-Merzbacher: Un trastorno Hereditario de la Mielina / Pilizaeus-Merzbacher: A heriditarian myelin disorder

Se describen las caracteristicas clinicas de 5 pacientes del sexo masculino, pertenecientes a una misma familia, con diagnostico de enfermedad de Pilizaeus-Merzbacher y cuya caracteristica fundamental consiste en un inicio temprano de la enfermedad, determinada por la presencia de nistagmo y una perdida lentamente progresiva de las habilidades a predominio de las funciones motoras. Estos pacientes son comparados con los reportado en la literatura medica

Enfermedades prion / Prion diseases

Las enfermedades prion son un grupo se desordenes degenerativos del sistema nervioso central que comparten características patológicas crónicas y progresivas. Los agentes causales son un grupo de proteínas infectantes sin presencia de ácidos nucleicos. El objetivo de realizar esta revisión es dar a conocer: qué son las enfermedades priónicas, además de aportar datos sobre su fisiopatología, clasificación, modos de transmisión a si como cuadro clínico, diagnóstico y posible tratamiento para lograr una mayor comprensión de estas patologías. Normalmente en nuestro organismo existen proteínas llamadas proteínas priónicas (PrP) las mismas que poseen un nivel de estructuración de tipo hélice alfa que es susceptible a la lisis por proteasas; la patogénesis de estas proteínas se producen cuando aparece una mutación o un cambio conformacional inducido por PrP patógena de otro individuo lo cual altera su estructura tridimensional haciendo imposible su lisis enzimática y su consecuente acumulación en los tejidos afectados, originando así las enfermedades priónicas.

The prion diseases are a group of degenerative disorders of the central nervous system that have chronic and progressive pathological characteristics in common. These diseases are caused by infectious agents called prion. A prion is a small proteinaceous infectious particle which resists inactivation by procedures that modify nucleic acids. The objective of this article is to understand the different aspects of these diseases and to contribute data about its physiopathology, classification, clinical signs and symptoms, diagnosis and treatment to. There exists a cellular protein known as cellular prion protein PrP that have alpha helix structure susceptible to lysis by protease. The pathogenesis of these proteins are produced when the mutation causes a change in the folding pattern of these protein which makes it resistant to the action of proteases and causes it to precipitate as insoluble amyloid. It accumulates in the affected tissue and causes the disease.

Anestesia en enfermedades mitocondriales / No disponible

Las enfermedades mitocondriales son un raro grupo de enfermedades que se manifiestan a través de un defecto en la cadena de transporte de electrones o de la fosforilación oxidativa. Se trata de una alteración del ADN nuclear o del mitocondrial que provoca miopatía hipotónica, encefalopatía y aumento del ácido láctico. Para su correcto diagnóstico deben realizarse, entre otras pruebas, una biopsia muscular y una resonancia magnética. El anestesista debe realizar su trabajo en un paciente con miopatía sin diagnosticar y con riesgo de complicaciones cardiorrespiratorias y neurológicas, por ello es importante el conocimiento de las acciones sobre la cadena respiratoria de los agentes anestésicos. Presentamos el desarrollo esquemático de las enfermedades de la cadena respiratoria mitocondrial y su manejo anestésico

Diseases of the mitochondrial respiratory chain are a rare pathologic group that can be manifested through a defect in the transport chain of electrons or by oxidative phosphorylation alteration. It is a disturbance of the nuclear or mitochondrial DNA, causing hypotonic myopathy, encephalopathy and hyperlactacidemya. For its correct diagnosis must be performed muscle biopsy and magnetic resonance. The anaesthetist must do their work in a patient without a correct diagnostic of myopathy, and a high risk of cardiorrespiratory and neurologic complications. That’s why it’s important the knowledge of the actions of de anaesthetic agents by de respiratory chain. We present the schematic development of the mitochondrial respiratory chain diseases and its anaesthetic management

Tratamiento quirúrgico de la insuficiencia cerebro-vascular endarterectomía carotidea / Surgical treatment of the cerebrovascular insuficiency. Carotid endarterectomy

Se consigna el primer reporte a nivel nacional de pacientes portadores de insuficiencia vascular cerebral, tratados quirúrgicamente entre 1984 y 1989, realizándose 25 endarterectomías carotídeas en los 20 pacientes reportados, con una morbilidad del 4%y una mortalidad nula. La incidencia en hombres/mujeres fue en una relación de 3:1, con una edad promedio de 63 años. Se discuten los procedimientos de diagnóstico, las indicaciones quirúrgicas así como los factores de riesgo, para luego consignar nuestros resultados y compararlos exitosamente con series reportadas en el extranjero

Comentários sobre dos casos de enfermedad de Pelizaeus-Merzbacher / Pelizaeus-Merzbacher disease

Comentários a dos casos - hermanos- de síndrome de Pelizaeus-Merzbacher sin historia de antecedentes familiares con, entre los dos, una hermana sana. UMa anoxia neonatal grave, y una sintomatomalogía, atípica dificultaran el diagnóstico en el primer caso. Salvo una gran diferencia en cuanto a la afectación mental, la evolución somática fué, luego, bastante paralela. El signo inicial fué un nistagmo pendular sólo. No había acromatopsia. No habia cambio oftalmoscópicos escandalosos y todos de acuerdo con los descritos en esta enfermedad, salvo, en el segundo caso, unas microhemorragias. La analítica solo reveló una plaquetopenia.

Enfermedad de Schilder: a propósito de un caso / Schilder disease: apropos of a case

La ahora denominada Leucodistrofia Adrenocortical tipo Schilder, representa una de las formas más graves de demencia asociada o pérdida visual y auditiva en la edad escolar. Presentamos un caso clínico y radiológicamente característico con el objeto de llamar la atención hacia su existencia y hacia la esperanza de poder ahora realizar diagnóstico pre-natal.

Variante esclerosante difusa do carcinoma papilífero da tireóide / Diffuse scleroing variant of papillary carcinoma of thyroid gland

O autor descreve os quadros anatompatológicos e clínico-epidemiológico da variante esclerosante difusa do carcinoma papilífero da tireóide, seguidos de proposta diagnóstica quanto aos achados citopatológicos, ao mesmo tempo que demonstra o perfil histoquímico das mucinas neutras e ácidas contidas na substância acinar. Através da imuno-histoquímica define a fenotipagem da variante passando a admitir que o infiltrado linfocitário resulta de resposta do hospedeiro aos antígenos tumorais nada tendo a ver com a tireoidite auto-imune. A análise pela citogotometria evidencia que a variante esclerosante difusa tem em comparaçäo com o carcinoma papilífero comum uma média de maior área nuclear e proporcional aumento de massa relativa de ADN, o que permite considerá-la, ao lado de informaçöes clínicas, como de mau prognóstico. A história natural deste subtipo de carcinoma papilifero sugere terapêutica cirúrgica inicial täo radical quanto possível

Esclerosis concéntrica de Baló: caso clínico / Balo concentric sclerosis: report of one case

We report a 50 years old woman admitted to the hospital due to progressive dysphagia and disarthria of there weeks duration. On admission a right hemiparesis was noted. CSF examination showed a protein of 9 mg/dl and no cells. A brain CAT scan showed rounded bilateral subcortical frontoparietal hypodense zones peripheral contrast material enhancement. Pseudobulbar palsies and hemiparesis worsened and the patient required nasoenteral feeding. She was discharged after four months, with severe dissabilities, with the diagnosis of Balo concentric, a progressive demyelinating disease

Epilepsia mioclónica progresiva como manifestaciónde una forma tardía de síndrome de Alpers / Progressive myoclonic epilepsy as a sign of a late form of Alpers syndrome

Introducción. La polidistrofia cerebral progresiva o síndrome de Alpers es un cuadro clinicopatológico, sin marcador biológico específico, caracterizado por afectación principalmente de la sustancia gris cerebral y que se manifiesta clínicamente por grave encefalopatía rápidamente progresiva con convulsiones intratables, habitualmente con un componente mioclónico. El cuadro clínico típico se inicia, tras un período neonatal normal, durante los dos primeros años de vida. Caso clínico. Niño que tras discretas dificultades escolares previas, comenzó con epilepsia a los 10 años y presentó a los 11 años una brusca descompensación con convulsiones intratables y grave deterioro neurológico con tetraparesia espástico-distónica, ausencia de funciones visuales y mínimo contacto social a la voz o estímulos táctiles. Como antecedentes destacaba un hermano previamente normal que falleció a los 7 años de edad en el curso de un estado convulsivo. Las biopsias de piel y músculo mostraron aumento del número y tamaño de las mitocondrias y el estudio de la cadena respiratoria en músculo mostró un déficit parcial de la actividad citocromo c oxidasa. La TAC evidenció a los 4 años una intensa atrofia generalizada. Conclusiones. El presente caso cumple los criterios de síndrome de Alpers establecidos por Adams y Lyon en 1996. Creemos que en el contexto de un síndrome de Alpers deben valorarse las alteraciones ultraestructurales de las mitocondrias en piel y músculo y el déficit parcial de la actividad enzimática del complejo IV de la cadena respiratoria. Destacamos la presentación tardía de un síndrome de Alpers, situación escasamente recogida en la literatura (AU)

Enfermedades por priones / Prion's disease

La autoreplicación del prion cumple un papel esencial en la patogenia de este grupo de afecciones caracterizadas por la producción de encefalopatías espongiformes, tanto en los casos determinados por un factor genético hereditario como en los provocados por iatrogenia o posiblemente por la ingestión de alimentos o sustancias contaminadas. En ambos casos la producción de una variante conformacional de la proteína prion plantea incógnitas por su mecanismo de replicación sin la intervención de DNA o RNA. Finalmente la implicancia de la epidemia en el ganado bovino aparecida hace más de 10 años en inglaterra, resulta inquietante a la luz de la nueva variante de este origen comunicada en 1996 en los seres humanos.

Esclerosis Mesial temporal: Clinica, estudios paraclinicos y cirugia / Mesial temporal sclerosis a comprehensive approach

Se realiza una revisión no sistemática de los principales tópicos de la esclerosis mesial temporal. Su clínica en ocasiones precedida en años por crisis febriles, reaparece, en la adolescencia como una epilepsia evolutiva caracterizada por crisis parciales simples y complejas, en muchos casos con pobre respuesta al tratamiento farmacológico, lo cual hace a quien la presenta candidato a una cirugía, procedimiento que reduce (incluso elimina) el uso de antiepilépticos. Se revisan las principales manifestaciones clínicas y su importancia en cuanto a lateralidad y se analizan los principales métodos diagnósticos y se propone una evaluación prequirúrgica sistemática para los candidatos. Finalmente se discute el estudio de Ontario y sus implicaciones en el tratamiento quirúrgico de la epilepsia