Uso del cannabis en 16 pacientes con epilepsia refractaria / Use of cannabis in 16 patients with refractory epilepsy

INTRODUCCIÓN: En la actualidad, el 30 a 40% de los pacientes epilépticos son refractarios a los fármacos anticonvulsivantes. En relación a esto, en los últimos años el uso de marihuana medicinal se ha convertido en un tema controversial tanto en la comunidad médica como en la población general. Se ha descripto que el sistema endocannabinoide del cerebro proporciona protección contra la actividad convulsiva, desempeñando un papel importante en la regulación del sistema nervioso central y equilibrando la interacción sináptica excitadora e inhibidora para una función cerebral normal. El mismo está compuesto principalmente de dos receptores cannabinoides: CB1R (Receptor cannabinoide tipo 1) y CB2R (Receptor Cannabinoide tipo 2). Los receptores CB1R se expresan predominantemente en sistema nervioso central, y el receptor CB2R se localiza principalmente en el sistema inmune humano y hematopoyético. La marihuana tiene dos componentes principales que influyen en el sistema endocannabinoide: delta-9-tetrahidrocannabinol (THC) y el cannabidiol (CBD). El THC a través del CB1R CBD presenta baja afinidad y es antagonista de CB1R y CB2R. Algunos estudios en animales muestran que los antagonistas de CB1R pueden reducir el umbral de las convulsiones. El CBD actúa a través de múltiples mecanismos. Estos incluyen efectos sobre los canales Potasio, Calcio, y funciones antagónicas en el receptor acoplado a proteína G, mediante el cual puede disminuir la liberación pre sináptica de glutamato, excitador del sistema nervioso central. Con todo, los mecanismos exactos subyacentes a los efectos antiepilépticos del CBD no están bien definidos. En estudios iniciales, realizados con utilización del extracto de aceite de cáñamo (con concentraciones de THC< 0,3%), en pacientes con Síndrome de Dravet y Epilepsia tipo Lennox Gastaut, se reportó una franca mejoría en la frecuencia de las crisis y en la calidad de conexión con el entorno del paciente. Asimismo, se objetivó alrededor de un 10% de efecto placebo debido a una escasa confiabilidad en el diseño de dichos estudios, mayormente basados en encuestas. Actualmente, los últimos estudios son realizados con CBD sintetizado, sin contener THC y a dosis mayores, con resultados prometedores. (AU)

INTRODUCTION: Currently, 30 to 40% of epilepsy patients are refractory to anti - convulsant drugs. In recent years, the use of medical marijuana has become a controversial issue not only within the medical community but also in the general population. Cannabidiol it would be responsible for the anticonvulsant effect through modulation of the endocannabinoid system. OBJECTIVE: To evaluate the efficacy of adjuvant treatment cannabis in patients with refractory epilepsy. MATERIALS AND METHODS: A descriptive retrospective study was performed from August 2016 to August 2017. Patients with a diagnosis of refractory epilepsy of various etiologies, to which was indicated as adjunctive therapy cannabidiol drops Everyday Advanced 5000 at a dose of 0.25 mg/lb/day. STATISTICALS ANALYSIS: Descriptive statistics was performed. For variables a chi-square test was used. Statistical significance p <0.05 was considered. RESULTS: The total sample (n = 16), 19% (3 patients) had a reduction equal to or greater than 50% in the seizure frequency (p = 1). Nine patients had electroencephalogram control, of which two patients showed improvements in drawn. By linking patients with EEG control and seizure frequency during treatment, a correlation statistically signific observed, with p <0.01. The 31% showed other positive effects reported by the family, the most common, improvements in connection with the environment. In 6 patients (37.5%) the adverse reaction was irritability. Five patients (31%) decidie rum discontinue treatment in less than 4 months, seeing no significant changes in the frequency of crisis. (AU)

Hipertensión endocraneana idiopática: respuesta al tratamiento Topiramato vs Acetazolamida / Endocranial idiopathic hypertension: response to treatment Topiramate vs. Acetazolamide

INTRODUCCIÓN: El término pseudotumorcerebri se reserva para denominar aquellas hipertensiones endocraneanas (HE) que clínicamente asemejan la existencia de un tumor cerebral, debido a la alteración de la circulación del líquido cefalorraquídeo (LCR). Para su diagnóstico se describen los criterios de Dandy-Smith. OBJETIVOS: Objetivo Primario: Determinar el beneficio del uso de Azetazolamida (ACZ) o Topiramato (TPM) en el tratamiento de la hipertensión endocraneana idiopática. Objetivos Secundarios: Uso de Presión de apertura como parámetro indicador para uso de ACZ o TPM. MATERIALES Y MÉTODOS: Tipo de estudio: Descriptivo Retrospectivo Observacional. RESULTADOS: La media de seguimiento fue de 11 meses, con un rango entre 6-12 meses Se estudiaron 5 pacientes con diagnóstico de Hipertensión Endocraneana Idiopática. Del total de los pacientes 5 (100%) tenían F.O patológico y como síntoma cardinal cefalea, 2 (40%) además vómitos. 3 (60%) fue tratado con Topiramato (TPM) mientras que 2 (40%) recibió acetazolamida (ACZ), ambos sin complicaciones (p= 0,07) Del total de los pacientes 3(60%) presento presión de apertura menor de 40 mmHg mientras que en los restantes 2 (40%) fue mayor a 40 mmHg. De estos últimos el 1 paciente recibió TPM y 1 paciente ACZ. Dos pacientes (40%) presentaron en el seguimiento una recaída sintomática, al intentar descender la medicación. No se pudo definir como parámetro de decisión la presión de apertura en del uso de uno u otro medicamento ya que al evaluar el uso de TPM y ACZ en pacientes con presión de apertura mayor a 41 mmHg solo se detallaron 2 pacientes cada uno tratado con un medicamento de los anteriormente descriptos. (Chi cuadrado p= 0.44). Ninguno de los pacientes tratados requirió otro tratamiento complementario como PL seriadas o válvula de derivación ventrículo peritoneal. CONCLUSION: No se logró determinar beneficio en el uso de un medicamento sobre otro en el tratamiento de la hipertensión endocraneana idiopática (p=0,07), pese al tamaño muestral, el cual podría ser un limitante. Coincidentemente con la literatura sigue sin haber evidencia suficiente. No existe un algoritmo de consenso en cuanto al correcto manejo terapéutico y farmacológico de esta entidad. El uso de TPM o ACZ no condiciona la posterior aparición de complicaciones (p= 0.45) El estudio oftalmológico es esencial para diagnóstico y seguimiento. No se pudo establecer correlación entre el valor obtenido en la medición de la presión de apertura y el tratamiento instaurado. (AU)

INTRODUCTION: The term Pseudotumor cerebri is reserved for those endocranial hypertensio (EH) that resemble clinically the existence of a brain tumor, due to alteration of the circulation of the cerebrospinal fluid (CSF). Classically, the Dandy-Smith criteria for diagnosis are described. TYPE OF STUDY: Descriptive observational. OBJECTIVE: Primary Objective: To determine the benefit of the use of Azetazolamide (ACZ) or Topiramate (TPM) in the treatment of idiopathic endocranial hypertension Secondary Objectives: Use of Opening Pressure as indicator parameter for use of ACZ or TPM. MATERIALS AND METHODS: Observed patients(N:5) per clinic with diagnosis of EIH by criteria of Dandy-Smith in the period 2013-2017. I was performed in all patients: RMNC s/contrast Fundus oculi Lumbar puncture + opening pressure. RESULTS: Of the total of patients (5) 100% had F.O pathological and as cardinal symptom headache, and 40% also vomiting. The mean follow-up was 11 months 60% of the patients was treated with topiramate (TPM) while 40% received acetazolamide (ACZ), both without complications. Of the total of patients 60% presented less than 40 opening pressure mmHg, while that in the remaining 40% was greater than 40 mmHg, of which 50% received TPM and 50% ACZ. 40% presented in tracking a symptomatic relapse, trying to get off the medication. None of the treated patients required other adjunctive therapy such as serial PL or ventricleperitoneal shunt. CONCLUSIONS: It was not possible to determine benefit in the use of one drug over another in the treatment of idiopathic intracranial hypertension (p = 0.07), despite the sample size, which could be a limitation. Coincidentally with the literature there is still not enough evidence. There is no consensus algorithm regarding the correct therapeutic and pharmacological management of this entity. The use of TPM or ACZ does not condition the subsequent appearance of complications (p = 0.45) The ophthalmological study is essential for diagnosis and follow-up. No correlation could be established between the value obtained in the measurement of the opening ression and the treatment established. (AU)

Bilateral occipital calcification, epilepsy and coeliac disease: clinical and neuroimaging features of a new syndrome.

Twenty patients affected by bilateral occipital cortical-subcortical calcification (BOC) are described, 19 (95%) had epilepsy. In 8 of 16 cases studied, intestinal biopsy revealed coeliac disease. Fourteen patients had occipital partial epilepsy with a relatively benign outcome, while 4 patients were affected by a severe form of epilepsy, with very frequent, drug-resistant, generalised and partial seizures with mental deterioration. One patient had a single episode of convulsive status epilepticus at four months of age. The neurological examination was normal in all patients. CT showed flocculo-nodular, cortico-subcortical BOC, without enhancement and without lobar or hemispheric atrophy. MRI was normal. The clinical and neuroimaging features of these patients are different therefore from those with the Sturge-Weber Syndrome. The study confirms a high prevalence of coliac disease in patients with BOC, but the relationship between these two pathologies still needs to be clarified.

Neurofibromatosis type one and West syndrome: a relatively benign association.

Fifteen patients with neurofibromatosis type one (NF1) and West syndrome (WS) were studied. The evolution of WS was clearly different from that seen in the other neurocutaneous syndromes, especially tuberous sclerosis. Steroids were efficacious and spasms disappeared. There was no relapse after discontinuation of steroids and antiepileptic drugs were successfully stopped several years later. Mental outcome was also very good. The association of both conditions does not seem to be a coincidence. WS with NF1 seems remarkably benign and resembles idiopathic WS more than symptomatic WS.

Epilepsy and brain tumors in infancy and adolescence.

Four boys and four girls with brain tumors who were admitted to our department in the last 8 years are herein described. They presented with epileptic fits, which began before the age of 14 years, with neither intracranial hypertension nor localizing signs during the first 6 months of the illness. The length of time between the first fit and the diagnosis of a tumor ranged from 2 months to 11 years (median of 3 years), during which period all patients but one received anticonvulsant therapy. The nontreated patient was under psychiatric treatment for 1 year. The electroencephalographic evolution was disconcerting, showing asymmetry of the recording with association of slow polymorphic waves and acute irregular waves, suggesting encephalitis. The neuroradiological diagnosis was made by cerebral arteriography in one patient and in the others by angiography and CT scans (which revealed hypodense cerebral areas in five cases and hyperdense areas in the other two). The histology of the tumor was that of a grade I astrocytoma in six cases; a grade III oligondendroglioma in one case, and a meningioma in the other. All patients underwent surgical treatment. Four also received radiation therapy, two for a partially excised astrocytoma and one each for an oligodendroglioma and a meningioma. Postoperatively, all patients were put on anticonvulsant drug therapy. There were no mortalities. To date, only one astrocytoma has recurred. The sequellae observed were hemiparesis in one case and marked psychomotor deficit in another. These two patients also still have epileptic fits. The others are all psychologically and neurologically normal, and two are now off antiepileptic drugs.

Porencephalic congenital cysts with hydrocephalus.

UNLABELLED: The therapeutic criteria according to tomographic findings are reviewed. 10 children, 6 male and 4 female, with porencephalic congenital cysts were studied. Early symptoms began within the first 6 months of life in 9 cases, and at the age of 5 years in 1. The most frequent symptoms were: seizures in 3; motor deficit in 5; retarded psychomotor development in 7; endocranial hypertension syndrome in 7; symmetric macrocrania in 7; paresis of the motor ocular nerves in 4. Preoperative studies: X-ray films-1 each patient-showed diastasis of sutures in 6 and cranial asymmetry in 2. Electroencephalograms-6 patients-were abnormal and diffuse in 3, hipsarrhythmic in 2, and focal in 1. CT-1 each patient-showed porencephalic cysts in all the patients; ventricular dilatation in 9; a single ventricle in 1, and a shift of the midline in 5. Postoperative studies: EEG, 1 each patient; CT, 1 each patient. SURGICAL TREATMENT: 8 patients underwent peritoneal shunts and 2 atrial shunts. Plastic surgery of the dysraphy was also performed. Postsurgical treatment: Rehabilitation and anti-convulsive treatment-4 patients. There were no deaths among the patients. The morbidity improved.

Multicore disease. Report of a case with lack of fibre type differentiation.

A six year old boy had congenital hypotonia and nonprogressive proximal muscular weakness, with mild abnormalities in the E. M. G. and normal serum enzyme levels. There was lack of fibre type differentiation in the quadriceps muscle biopsy. The fibres had high oxidative enzyme activity and low ATPase 9.4 activity. In almost every fibre there were multiple areas of focal decrease of oxidative enzyme activity, resembling in few of them the lesion described in Central Core Disease. There was abscence of mitochondria and disorganization of the sarcomere with streaming of the Z line within the lesions. The clinical and histological observations have close similarity to the cases first described by A. G. Engel et al. in 1971 as "Multicore Diseases" and to other similar reported cases.