Ganglioglioma espinal intramedular: caso clínico y revisión comparativa de la literatura / Intramedullary spinal cord ganglioglioma: Case report and comparative literature review

Introducción Los gangliogliomas espinales intramedulares (GGEI) representan el 35-40% de todos los tumores intramedulares en niños. Estos tumores presentan un algoritmo terapéutico y pronóstico diferente con respecto a otros tumores medulares, tales como los astrocitomas o los ependimomas espinales. El objetivo del estudio es revisar la literatura para esclarecer una vía diagnóstica y terapéutica de dicho tumor en base a un caso clínico de GGEI diagnosticado en nuestro centro. Método Se ha realizado una revisión literaria exhaustiva de los GGEI publicados desde 1911 hasta 2018 a través de la plataforma PubMed-NCBI, adjuntando de cada paciente, las características epidemiológicas, la localización, la clínica, el diagnóstico radiológico y el tratamiento. Resultados Se encontraron un total de 167 casos de GGEI, incluyendo nuestro caso. En nuestra muestra, el 52% de los pacientes pertenece al sexo femenino, siendo la década de edad más afectada la que va de los 0 a los 9 años (35% de los pacientes). El déficit motor se establece como síntoma principal en pacientes adultos en mayor proporción que en pacientes pediátricos. Radiológicamente, este tumor se presenta con mayor hiperintensidad y captación de contraste que los astrocitomas y los ependimomas, así como un mayor porcentaje de quistes intratumorales. La mutación BRAFV600E es menos frecuente en los gangliogliomas espinales que en los supratentoriales. La cirugía con resección total es el tratamiento de elección. Solamente el 19% de los pacientes de la muestra recibieron radioterapia y solo el 9% quimioterapia como única vía de tratamiento. Conclusiones Los GGEI son frecuentes en la población pediátrica y requieren de un alto nivel de sospecha para su correcto diagnóstico y tratamiento, ya que tienen 3 veces más riesgo de recurrencia que sus homólogos supratentoriales (AU)

Introduction Intramedullary spinal cord gangliogliomas (ISCGGs) account for 35-40% of all intramedullary tumors in children. These tumors have a different algorithm for treatment and prognosis than other medullary tumors, such as astrocytomas and spinal ependymomas. The objective of the study was to review the literature and examine an approach to diagnosing and treating this tumor based on a case report of ISCGG diagnosed at our center. Method An exhaustive review of cases of ISCGG published via the PubMed-NCBI platform between 1911 and 2018 was performed, and each patient's epidemiological characteristics, tumor location, symptoms, radiological diagnosis and treatment were appended. Results A total of 167 cases of ISCGG were found, including our own. In our sample, 52% of patients were female and the most commonly affected age group was 0-9 years of age (35% of patients). Motor deficit has been found to be the main symptom in a larger proportion of adults patients versus pediatric patients. On X-ray, this tumor shows greater hyperintensity and contrast uptake than astrocytomas and ependymomas, as well as a higher percentage of intratumoral cysts. The BRAFV600E mutation is less common in spinal as opposed to supratentorial gangliogliomas. Surgery with complete resection is the treatment of choice. Only 19% of the patients in the sample received radiotherapy, and only 9% received chemotherapy as their only line of treatment. Conclusions ISCGGs are common in the pediatric population and require strong suspicion for proper diagnosis and treatment, as the risk of recurrence of ISCGGs is 3 times greater than that of supratentorial gangliogliomas (AU)

Intramedullary spinal cord ganglioglioma: Case report and comparative literature review. / Ganglioglioma espinal intramedular: caso clínico y revisión comparativa de la literatura.

INTRODUCTION: Intramedullary spinal cord gangliogliomas (ISCGGs) account for 35-40% of all intramedullary tumors in children. These tumors have a different algorithm for treatment and prognosis than other medullary tumors, such as astrocytomas and spinal ependymomas. The objective of the study was to review the literature and examine an approach to diagnosing and treating this tumor based on a case report of ISCGG diagnosed at our center. METHOD: An exhaustive review of cases of ISCGG published via the PubMed-NCBI platform between 1911 and 2018 was performed, and each patient's epidemiological characteristics, tumor location, symptoms, radiological diagnosis and treatment were appended. RESULTS: A total of 167 cases of ISCGG were found, including our own. In our sample, 52% of patients were female and the most commonly affected age group was 0-9 years of age (35% of patients). Motor deficit has been found to be the main symptom in a larger proportion of adults patients versus pediatric patients. On X-ray, this tumor shows greater hyperintensity and contrast uptake than astrocytomas and ependymomas, as well as a higher percentage of intratumoral cysts. The BRAFV600E mutation is less common in spinal as opposed to supratentorial gangliogliomas. Surgery with complete resection is the treatment of choice. Only 19% of the patients in the sample received radiotherapy, and only 9% received chemotherapy as their only line of treatment. CONCLUSIONS: ISCGGs are common in the pediatric population and require strong suspicion for proper diagnosis and treatment, as the risk of recurrence of ISCGGs is 3 times greater than that of supratentorial gangliogliomas.

[Miller-Fisher syndrome: clinical features, associated infections and clinical course in 8 cases]. / Síndrome de Miller-Fisher: hallazgos clínicos, infecciones asociadas y evolución en 8 pacientes.

BACKGROUND AND OBJECTIVE: Miller-Fisher syndrome (MFS) is considered the most common variant of Guillain-Barré syndrome (GBS) and is characterized by the clinical triad of ophthalmoplegia, ataxia and areflexia. Respiratory involvement and relapses are unusual. Patients with MFS usually have a good recovery and no residual deficits. We describe the clinical features, associated infections and evolution in eight patients with MFS. PATIENTS AND METHOD: Eight cases of MFS and sixty-one of GBS were studied between 1994 and 2003. All cases showed the clinical triad of MFS without major limb weakness or other signs suggestive of CNS involvement. RESULTS: The proportion of MFS with respect to GBS during the same period was 13.1%. Four had a positive serology for Epstein-Barr virus, Salmonella enteritidis, Chlamydia pneumoniae and Mycoplasma pneumoniae. Our cases showed facial palsy (75%), dysphagia (75%), pupillary abnormalities (37.5%) and ventilation support (37.5%). Antiganglioside antibodies, determined in three cases (4 episodes), were positive [GQ1b (50%) and GD1b (50%)]. In all cases, there was a markedly reduced amplitude of the distal sensory as well as frequent axonal degeneration signs. The oldest three patients relapsed and required ventilation support. CONCLUSIONS: We report for the first time an association between S. enteritidis and C. pneumoniae and MFS. Older patients in our series suffered a faster disease progression with need of ventilation support. We conclude that an older age correlates with poor prognosis and relapses.

Síndrome de Miller-Fisher: hallazgos clínicos, infecciones asociadas y evolución en 8 pacientes / Miller-Fisher syndrome: clinical features, associated infections and evolution in 8 cases

FUNDAMENTO Y OBJETIVO: El síndrome de Miller-Fisher (SMF) se considera la variante más común del síndrome de Guillain-Barré, y se caracteriza por la tríada clínica oftalmoplejía, ataxia y arreflexia. La afección respiratoria y las recidivas son raras. Normalmente la recuperación es buena sin déficit residuales. El objetivo de este trabajo es describir los hallazgos clínicos, infecciones asociadas y evolución en 8 pacientes con SMF. PACIENTES Y MÉTODO: Entre 1994 y 2003 se estudió a 8 pacientes con SMF. Todos presentaron la tríada clínica característica, sin debilidad importante en los miembros ni otros signos indicativos de afección del sistema nervioso central. RESULTADOS: La proporción de SMF respecto al síndrome de Guillain-Barré en el mismo período fue del 13,1 por ciento. Cuatro presentaron serologías positivas para el virus de Epstein-Barr, Salmonella enteritidis, Chlamydia pneumoniae y Mycoplasma pneumoniae. Hubo parálisis facial en el 75 por ciento, disfagia en el 75 por ciento, anormalidades pupilares en un 37,5 por ciento y necesidad de soporte respiratorio en un 37,5 por ciento. La determinación de anticuerpos antigangliósidos se realizó en 3 casos (4 episodios), el 50 por ciento fue positivo para GQ1b y el 50 por ciento para GD1b. En todos los casos había una marcada reducción de la amplitud sensitiva distal y frecuentes signos de degeneración axonal. De los 6 casos tratados con inmunoglobulinas intravenosas, solamente un caso no respondió ni con éstas ni con plasmaféresis. Los 3 pacientes de mayor edad presentaron recidiva y precisaron de soporte ventilatorio. CONCLUSIONES: Se describe la asociación de S. enteritidis y C. pneumoniae con SMF. Los pacientes de mayor edad en nuestra serie sufrieron una progresión más rápida, presentaron degeneración axonal en los estudios electrofisiológicos y precisaron de soporte ventilatorio, de modo que una mayor edad se asoció a peor pronóstico y recidivas (AU)

Polirradiculopatía desmielinizante aguda variante Miller-Fisher asociada a infección entérica por Salmonella / Acute demyelinating polyradiculopathy Miller-Fisher variant associated with Salmonella gastroenteric infection

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Mielopatía diferida por electrocución de alta tensión / Delayed myelopathy in hight tension electric-burn

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