Testicular mixed germ cell tumor presenting with seizure as the initial symptom: a case report and literature review

Abstract Most patients with testicular germ cell tumor present with a painless scrotal mass. We report a 19-year-old patient who presented with neurological complains. Rapid clinical progression to coma was noted during the staging work up. A diagnosis of testicular mixed germ cell tumor with multiorgan metastasis (lymph node, lung, liver and brain) was made. Patients with brain metastasis should receive chemotherapy alone or combined with surgery or radiotherapy. Because the clinical symptoms deteriorated quickly, surgery was used upfront followed by chemotherapy and radiotherapy for the brain tumor. After the first stage of treatment, the clinical symptoms, tumor markers and imaging findings were improved. The residual brain tumor was eliminated by chemotherapy, and only sparse degenerated tumor cells were noted in the brain tissue. Longer follow up is required to assess the impact of our treatment strategy.

Snyder-Robinson syndrome

Snyder-Robinson syndrome, also known as spermine synthase deficiency, is an X-linked intellectual disability syndrome (OMIM #390583). First described by Drs. Snyder and Robinson in 1969, this syndrome is characterized by an asthenic body habitus, facial dysmorphism, broad-based gait, and osteoporosis with frequent fractures. We report here a pediatric autopsy of a 4 year old male with a history of intellectual disability, gait abnormalities, multiple fractures, and seizures previously diagnosed with Snyder-Robinson syndrome with an SMS gene mutation (c.831G>T:p.L277F). The cause of death was hypoxic-ischemic encephalopathy secondary to prolonged seizure activity. Although Snyder-Robinson syndrome is rare, the need to recognize clinical findings in order to trigger genetic testing has likely resulted in under diagnosis.

Síndrome de Turcot / Turcotꞌs syndrome

RESUMEN Se presenta a una paciente de 27 años de edad, con varios ingresos en el Hospital Provincial Clínico Quirúrgico Docente “José Ramón López Tabrane”, de Matanzas. Por presentar clínica compatible con pólipos de colon, corroborados por videocolonoscopia, diagnosticados en marzo de 2015. Posteriormente reingresa a los 14 meses por convulsiones, al inicio generalizado y luego limitado al hemicuerpo derecho, cefalea universal y vómitos. Falleció a los 23 días de su ingreso, en los antecedentes patológicos familiares destaca madre fallecida a los 52 años por cáncer de colon y hermana a los 21 años por neoplasia maligna colorectal (AU).

ABSTRACT The case of a female patient, aged 27 years is presented. She was in-patient in the Teaching Clinical Surgical Provincial Hospital “José Ramón López Tabrane”, of Matanzas for several times presenting clinical characteristics compatible polyps in the colon, corroborated by video colonoscopy, and diagnosed in March 2015. She was readmitted 14 months later because of convulsions, generalized firstly and lately limited to the right side of the body, universal headache and vomits. She died 23 days after the admittance. The family history shows that her mother died when she was 52, due to colon cancer and her sister died at twenty one due to colorectal malignant neoplasia (AU).

Encefalitis autoinmunitaria asociada a anticuerpos contra el receptor N-metil-D-aspartato: presentación de dos casos / Autoimmune encephalitis associated to antibodies against the N-methyl-D-aspartate receptor: Report of two cases

Resumen La encefalitis asociada a anticuerpos contra receptores N-metil-D-aspartato es un síndrome neurológico que se presenta más comúnmente en mujeres jóvenes y frecuentemente se asocia al teratoma de ovario. Se caracteriza por un cuadro clínico agudo con síntomas generales inespecíficos que evoluciona hacia deterioro neurológico, psicosis y convulsiones; en su etapa más avanzada, se asocia con movimientos anormales y disautonomía. Se reportan dos casos en mujeres de 23 y 12 años. Dada su baja incidencia, se explica el proceso clínico que llevó a su diagnóstico y las opciones de tratamiento empleadas.

Abstract Anti-N-methyl-D-aspartate receptor encephalitis is a neurological syndrome that is more common in young women and is often associated with ovarian teratoma. It is characterized by acute general unspecific symptoms that evolve to neurological deterioration, psychosis and seizures. In its more advanced stage it is associated with abnormal movements and dysautonomia. We report two cases in women of 23 and 12 years of age. Given its low incidence, we present the clinical exercise that led to their diagnoses and the treatment options employed.

Patterns of seizure control in patients with mesial temporal lobe epilepsy with and without hippocampus sclerosis / Padrões de controle de crises em pacientes com epilepsia de lobo temporal com ou sem esclerose hipocampal

Objective Patients with mesial temporal lobe epilepsy (MTLE) may present unstable pattern of seizures. We aimed to evaluate the occurrence of relapse-remitting seizures in MTLE with (MTLE-HS) and without (MTLE-NL) hippocampal sclerosis. Method We evaluated 172 patients with MTLE-HS (122) or MTLE-NL (50). Relapse-remitting pattern was defined as periods longer than two years of seizure-freedom intercalated with seizure recurrence. “Infrequent seizures” was considered as up to three seizures per year and “frequent seizures” as any period of seizures higher than that. Results Thirty-seven (30%) MTLE-HS and 18 (36%) MTLE-NL patients had relapse-remitting pattern (X2, p = 0.470). This was more common in those with infrequent seizures (X2, p < 0.001). Twelve MTLE-HS and one MTLE-NL patients had prolonged seizure remission between the first and second decade of life (X2, p = 0.06). Conclusion Similar proportion of MTLE-HS or MTLE-NL patients present relapse-remitting seizures and this occurs more often in those with infrequent seizures. .

Objetivo Pacientes com epilepsia do lobo temporal mesial (ELTM) podem apresentar padrão instável de crises epilépticas. Nosso objetivo foi avaliar ocorrência de crises remitente-recorrentes em ELTM com (ELTM-EH) e sem (ELTM-NL) esclerose hipocampal. Método Avaliamos 172 pacientes com ELTM-EH (122) ou ELTM-NL (50). Padrão remitente-recorrente foi definido como períodos superiores a dois anos de remissão intercalados com recorrência de crises. Até três crises por ano foram consideradas como "infrequentes" e qualquer período com frequência maior como "frequentes". Resultados Trinta e sete (30%) pacientes com ELTM-EH e 18 (36%) com ELTM-NL apresentaram crises remitente-recorrentes (X2, p = 0,470), mais comum naqueles com crises infrequentes (X2, p < 0,001). Doze pacientes com ELTM-EH e um ELTM-NL apresentaram remissão prolongada de crises entre a primeira e a segunda década de vida (X2, p = 0,06). Conclusão Proporção semelhante de pacientes com ELTM-EH e ELTM-NL apresentam crises remitente-recorrentes e isso ocorre com maior frequência em pacientes com crises esporádicas. .

Hallazgo por neuroimaginología de microangiopatía cerebral retiniana con calcificaciones y quistes / Neuroimaging findings in cerebroretinal microangiopathy with calcifications and cysts

La microangiopatía cerebral retiniana con calcificaciones y quistes es una enfermedad poco frecuente, caracterizada por alteraciones cerebrales, retinianas y óseas, así como por predisposición al sangrado gastrointestinal. Existen pocos reportes de casos de esta condición, especialmente en adultos, en quienes la incidencia es baja. Los hallazgos por medio de neuroimágenes son característicos, con calcificaciones bilaterales y múltiples formaciones quísticas. El propósito de este artículo fue hacer una revisión bibliográfica e ilustrar dos casos cuyo diagnóstico fue posible con la ayuda de neuroimágenes.

Cerebroretinal microangiopathy with calcifications and cysts is a rare condition characterized by brain, retinal and bone anomalies, as well as a predisposition to gastrointestinal bleeding. There are few reported cases of this condition in adults, among whom the incidence is low. Neuroimaging findings are characteristic, with bilateral calcifications, leukoencephalopathy and intracranial cysts. The purpose of this article was to do a literature survey and illustrate two cases diagnosed with the aid of neuroimaging.

Aspectos clínicos y demora para el diagnóstico en niños con tumores del sistema nervioso central en el Instituto Nacional de Cancerología de Colombia / Clinical aspects and delay in diagnosis of children with central nervous system tumors at the National Cancer Institute of Colombia

Objetivo: Determinar las características clínicas y el intervalo de tiempo transcurrido entre la presentación y el diagnóstico de los tumores del sistema nerviosso central en niños atendidos en el Instituto Nacional de Cancerología. Métodos: Se estudió una cohorte de 64 pacientes entre enero de 2008 y agosto de 2010. El análisis se realizó mediante la estadística descriptiva. Se realizaron análisis exploratorios utilizando prueba de X ². Los resultados se considerarán estadísticamente significativos si P <0,05. Resultados: El sexo masculino fueron 36 pacientes (56,3%). La mediana de edad fue 8 años con rango de 0 a 17 años. El 12,5 % procedían de una zona rural. La cefalea, el vómito, las convulsiones, las alteraciones de la marcha y el estrabismo fueron las manifestaciones clínicas más frecuentes. El 60,9 % de los pacientes fueron evaluados en su primera consulta por un médico general, el 12,5 % por un pediatra, y 6,3 % por un oftalmólogo. La mediana de consultas previas a la sospecha diagnóstica fue de dos. En el 72 % de los pacientes el médico no sospechó la presencia de un tumor cerebral y en su defecto el diagnóstico inicial fue migraña en 18,8 %. La localización más frecuente fue hemisferios cerebrales 37,5 %. La mediana del tiempo entre los síntomas y el diagnóstico fue 41 días con promedio 122 días (DE ± 181). Conclusiones: Existe demora en la realización del diagnóstico de tumores del SNC y baja sospecha diagnóstica debido a un origen multifactorial, por síntomas inespecíficos, dificultad de los pacientes en sus primeros años para comunicarlos, y de los padres y los médicos para detectarlos.

Objective: To determine the clinical presentation and the time interval between the clinical presentation and diagnosis of central nervous system tumors in children treated at the National Cancer Institute (NCI). Methods: We studied a retrospective and prospective cohort of 64 patients between January 1, 2008 and August 31, 2010. The analysis was performed using descriptive statistics. Exploratory analysis was performed using X² test. Results were considered statistically significant with value P<0,05. Results: Of the 64 patients included for analysis 36 (56,3%) were male. The median age was 8 years with a range of 0 to 17,12.5% were from a rural area of the country. Headache, vomiting, seizures, gait abnormalities and strabismus were the most frequent clinical manifestations. 60,9% of patients were assessed at their first visit by a general medical, 12,5% by a pediatrician, and 6.3% by an ophthalmologist. The average consultation prior to the suspicion diagnosis was of three. In 72% of patients the doctor who treated the child for the first time do not suspect the presence of a brain tumor and the initial diagnosis was migraine in 18.8%. The most frequent location was in cerebral hemispheres 37,5%. The median interval between symptoms and diagnosis was 41 days and an average of 122 days (SD ± 181). Conclusions: The delay in making the diagnosis of brain tumor and low diagnostic suspicion due to a multifactorial origin by nonspecific symptoms, shortness of patients in their early years to express symptoms, and parents and medical staff to detect.

DIAGNÓSTICO / Diagnosis

La meningitis es una de las patologías infecciosas más graves en pediatría y constituye una verdadera emergencia médica. La evaluación clínica acuciosa, el valor de la imagenología (TAC, RMN) antes de la punción lumbar, la interpretación del Líquido Cefalorraquídeo (LCR) y la identificación del germen etiológico por cultivos y pruebas especiales (PCR) confirman el diagnóstico definitivo. La sospecha clínica de una infección del Sistema Nervioso Central (SNC) comienza con la historia del paciente al identificar factores de riesgo. La sintomatología asociada con la meningitis varía con la virulencia del agente etiológico y la edad. El examen físico debe considerar la triada clásica: fiebre, rigidez de nuca y alteraciones de la conciencia, la cual se detecta en dos tercios de los pacientes y al menos uno de estos síntomas está presente, de éstos la fiebre es el más común. La convulsión ocurre en un tercio de ellos. Se pueden observar síntomas inespecíficos, tales como cefalea, náuseas, vómitos e irritabilidad

Meningitis is one of the most serious infectious pathologies in pediatrics and it constitutes a true medical emergency. The diligent clinical evaluation, the value of imaging studies before the lumbar puncture, the interpretation of the cerebroespinal fluid and the special identification of the germ by cultures and special tests confirm the definitive diagnosis. The clinical suspicion of an infection of the Central Nervous System (CNS) begins with the history of the patient and the identification of risk factors. The symptoms associated with the meningitis vary with the virulence of the germ and the age of the child. The physical examination must consider the “classic triad” of fever, rigidity of the neck and alterations of the conscience, which is detected in two thirds of the patients and at least one of these symptoms is present, fever is the most common. The seizure appears in a third of them. Unspecific symptoms can appear, such as headache, nausea, vomits and irritability

Dilation of the olfactory bulb cavity concurrent with hydrocephalus in four small breed dogs

Four small breed dogs were admitted with seizures. Magnetic resonance imaging (MRI) of the brain revealed dilation of the olfactory bulb cavity as well as enlargement of the lateral ventricles. These findings demonstrate that dilation of the olfactory bulb cavity can occur concurrent with hydrocephalus. This is the first description of the clinical and MRI features of dilation of the olfactory bulb cavity concurrent with hydrocephalus in dogs.

Status epilepticus en el embarazo: un estudio en diez casos / Status epilepticus in pregnancy: study of ten cases

Evaluar la influencia del status epilepticus en la evolución del embarazo y en el recién nacido. Estudiamos las embarazadas hospitalizadas por status epilepticus, entre los años 1998 y 2004. En todas evaluamos historia de epilepsia, historia obstétrica y la salud de los recién nacidos. Maternidad “Concepción Palacios ”. Caracas. Se incluyeron diez episodios de status epilepticus en ocho embarazadas, la mayoría multigrávidas. El 50 por ciento ocurrieron en el tercer trimestre, 40 por ciento en el segundo y sólo un caso,10 por ciento, en el primero. En el 50 por ciento de los episodios el factor desencadenante fue el incumplimiento, o el abandono del tratamiento. Se practicó cesárea en el 71,5 por ciento de los nacimientos vivos, por sufrimiento fetal o causas obstétricas. Siete mujeres parieron ocho niños; uno murió en la Unidad de Cuidados Intensivos Neonatales por insuficiencia respiratoria severa. Ningún recién nacido tuvo malformaciones al nacer. Probablemente el factor desencadenante más importante del status epilepticus en el embarazo es el incumplimiento o abandono del tratamiento. El predominio en el tercer trimestre sugiere la necesidad de un control clínico más cuidadoso durante este período. Las embarazadas con status epilepticus deben ser tratadas vigorosamente para controlar las convulsiones, mientras se permite continuar el embarazo. Si se indica una cesárea ha de ser por causas fetales u obstétricas, no como medio para controlar las convulsiones.

Utilidad de la electroencefalografía en las epilepsias y síndromes epilépticos de la infancia / Utility of electroencephalography in epilepsy and epileptic syndrome of childhood

Se revisó la utilización del electroencefalograma (EEG) en el manejo de las epilepsias y síndromes epilépticos, como una herramienta para el diagnóstico y pronóstico del paciente con crisis epilépticas en el área de la neuropediatría, correlacionando las manifestaciones clínicas, edad de inicio, frecuencia, pronóstico y características electroencefalográficas de los trazados de cada una de ellas. El electroencefalograma goza de una extraordinaria vigencia en las neurociencias, dado que es un instrumento del que disponemos para aproximarnos realmente al funcionamiento cerebral en tiempo reales decir, a escala de milisegundos. A pesar de que en el último decenio se ha producido un desarrollo espectacular de las técnicas de neuroimágenes y funcionales, como la tomografía axial computarizada (TAC), resonancia magnética cerebral (RM) con sus variantes funcionales, la tomografía de emisión de positrones (PET), la tomografía computarizada de emisión de fotones (SPECT) y la magnetoencefalografía (MEG), la llegada de esas técnicas no ha conseguido relegar al EEG a un papel secundario. La calidad del EEG va a depender de los datos obtenidos, de una evaluación adecuada para llegar a conclusiones valederas que se obtengan como producto de la habilidad, entrenamiento y experiencia de la persona a cargo de realizarlo. El EEG aporta el diagnóstico definitivo en muchas de las epilepsias y síndromes epilépticos de la infancia.

The utility of the electroencephalogram (EEG) in handling childhood epilepsies and epileptic syndromes was reviewed as a diagnosis and prognosis tool in the patient with epileptic crisis. Correlations were stablished between clinical manifestations, age of onset, frequency, prognosis and electroencephalographic characteristics of the layouts of each one of the different types. EEG is extremely useful in neurosciences; since it is the only instrument that we have to assess the brain´s function in real time, that is to say, at the scale of milliseconds. Although in the last decade a spectacular development of neuroimages and functional techniques has taken place, as with computerized axial tomography (CAT), cerebral magnetic resonance (MR) with its fuctional variants, positron emission tomography (PET), photon emission computerized tomography (SPECT) and magnetoencephalography (MEG), the arrival of those techniques has not been able to relegate EEG to a secondary place. The utility of the EEG depends on an adequate evaluation that will lead to valid conclusions. The accuracy of this evaluation is related to the ability, training and experience of the operator. The EEG contributes to the definite diagnosis in many of childhood epilepsies and epileptic syndromes.

Esclerose hipocampal unilateral com registro subdural de crises temporais contralaterais: relato de caso / Unilateral hippocampal sclerosis with subdural strips in seizures from the contralateral temporal lobe: case report

INTRODUÇÃO: Pacientes com epilepsia temporal e esclerose hipocampal unilateral tem, na sua grande maioria das vezes, as suas crises e as alterações eletroencefalográficas interictais originando-se do lado da lesão. Mesmo alguns pacientes nos quais os registros de escalpo mostram as crises originando-se da região temporal contralateral à atrofia do hipocampo, registros invasivos têm mostrado que a região de início das crises é, na realidade, ipsilateral à atrofia. No entanto isso talvez não seja verdadeiro para todos pacientes. OBJETIVO: Nesse artigo é relatado uma paciente com atrofia hipocampal unilateral, mas cujas crises, tanto no escalpo quando com registros subdurais, mostram vir da região temporal contralateral. RESULTADO: A paciente tem atrofia hipocampal à direita mas cujo EEG interictal mostrava predomínio de descargas à esquerda, bem como crises vindo daí. O registro com strips subdurais mostrou origem das crises à esquerda. CONCLUSÃO: Possivelmente alguns pacientes com epilepsia temporal têm as crises vindo do hipocampo menos atrófico.

INTRODUCTION: Most patients with temporal lobe epilepsy and hippocampal sclerosis have the seizures and the interictal electroencephalographic abnormalities coming from the side of atrophic hippocampus. Even some patients on whom the seizures seem to arise from the contralateral temporal lobe, invasive recordings have shown that the seizures actually come from that atrophic side. But this may not be always the case. OBJECTIVE: We report a patient with a unilateral hippocampal atrophy and the seizures, seen both on the scalp as well with subdural strips, come from the contralateral temporal lobe. A patient with right hippocampal atrophy had most of the interictal discharges coming from the left temporal lobe, as well her seizures. Invasive recordings with subdural strips also showed seizures arising from the left temporal lobe. CONCLUSION: There might be some patients with temporal lobe epilepsy whose seizures come from the less.

The clinical forensic medicine identification on pseudoseizures after head trauma / 法医学杂志

Two pseudoseizures after head trauma are reported. We summarize the clinical manifestation of pseudoseizures, and identify difference of pseudoseizures and Seizures after head trauma. The forensic identification of pseudoseizures after head trauma should base on the extend and position of cerebral trauma, sequelae focus in cerebral, and the clinical manifestation.

Convulsiones neonatales / Neonatal convulsions

Las convulsiones neonatales son la evidencia más clara de una anormalidad en el funcionamiento cerebral, teniendo una incidencia variable entre 1 a 5 por 1000 RN vivos, asociándose más frecuentemente a una patología subyacente, a diferencia de las condiciones genéticas o idiopáticas que se observan en otras edades. La fisiopatología involucrada incluye una descarga hipersincrónica de un grupo finito de neuronas corticales, a través de diferentes mecanismos que conducen a una despolarización de las membranas neuronales. La clasificación utilizada se fundamenta en una observación cuidadosa de los fenómenos clínicos, siendo los hallazgos motores de tipo tónico, clónico, mioclónico y automatismos los de mayor relevancia, agregándose los datos aportados por el electroencefalograma (EEG) y video-EEG para complementar las apreciaciones clínicas. En el diagnóstico diferencial hay fenómenos motores como el mioclonus benigno del sueño, temblores, movimientos del despertar, reflejos fisiológicos, movimientos conductuales, movimientos extrapiramidales entre otros. Se debe además reconocer si estas forman parte de uno de los síndromes específicos que se inician en el período neonatal. El tratamiento adecuado incluye el de la etiología subyacente así como los fármacos anticonvulsivantes, dentro de los cuales el Fenobarbital, Lorazepam y Fenitoína aún tienen una participación relevante.

Secondary bilateral synchrony due to front-mesial lesions: an invasive recording study

Frontal lobe epilepsies may present difficulties in focus localization in the pre-operative work-up for epilepsy surgery. This is specially treu in patients with normal MRIs. We report on a 16 years-old girl that started with seizures by the age of 8 years. They were brief nocturnal episodes with automatisms such as bicycling and boxing. Seizure frequency ranged from 4-10 per night. Scalp EEG showed few right frontal convexity spiking and intense secondary bilateral syncrhony (SBS). High resolution MRI directed to the frontal lobes was normal. Ictal SPECT suggested a right fronto-lateral focus. Ictal video-EEG showed no focal onset. She was submitted to invasive recordings after subdural plates implantation. Electrodes covered all the frontal convexity and mesial surface bilaterally. Ictal recordings disclosed stereotyped seizures starting from the right mesial frontal. Using a high-resolution tool to measure intra and interhemispheric latencies, the timing and direction of seizure spread from the right fronto-mesial region were studied. Motor strip mapping was performed by means of electrial simulation. She was submitted to a right frontal lobe resection, 1,5 cm ahead of the motor strip and has been seizure free since surgery (8 months). Pathological examination found a 4 mm area of cortical dysplasia. Invasive studies are needed to allow adequate localization in patients with non-localizatory non-invasive work-up and may lead to excellent results in relation to seizures after surgery.

Encefalitis equina venezolana: manifestaciones clínicas iniciales / Encephalitis equine venezolana manifestation clinics initials

Se revisaron, brevemente, 135 casos de encefalitis equina venezolana. Más del 45 por ciento de los pacientes (63), presentaron la tríada: fiebre, cefalea, vómito. Noventa y nueve casos tuvieron cefalea. Ciento veinte casos tuvieron fiebre. Las convulsiones fueron más frecuentes en los niños. La incidencia de casos fue igual para ambos sexos. El 80 por ciento de los casos (109) estuvo en edades comprendidas entre 0 y 20 años

Insulinoma presented as epileptic seizure for 10 years

For the past 10 years, a 52-year old female Saudi patient had repeated episods of convulsions. She was diagnosed as a case of epilepsy and treated accordingly, However, the patient's history and investigations indicated that her symptoms were related to insulin-secreting tumor [lnsulinoma]. It was successfully treated surgically. The presence of insulinoma should be considered in any patient with unusual or unexplained neurology picture especially when it was intermittent. The diagnosis can be confirmed by demonstration of an inappropriately high circulating insulin level for the ambient blood glucose concentration. The case of insulinoma in a Saudi patient is presented and insulinoma is briefly discussed