Ictus isquémico secundario a disección aórtica: un reto diagnóstico / Ischaemic stroke secondary to aortic dissection: A diagnostic challenge

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[Cryptogenic stroke in a young patient with heart disease and kidney failure]. / Ictus criptogenico en un paciente joven con cardiopatia y fallo renal.

INTRODUCTION: Fabry's disease is an infrequent metabolic pathology linked to the X chromosome which causes a wide variety of signs and symptoms. CASE REPORT: A 39-year-old male who was admitted to our stroke unit with right-side hemiparesis (1 + 0) and dysarthria (1). The score on the National Institute of Health Stroke Scale was 2. The patient presented angiokeratomas in both thighs. A computerised axial tomography scan of the head showed left thalamic acute infarction. The duplex scan of the supra-aortic trunks was normal, and the transcranial Doppler reflected a generalised increase in the pulsatility indices. Transthoracic echocardiography showed left ventricular hypertrophy and left atrial dilatation. He was discharged five days later, with antiaggregating medication but asymptomatic. The prolonged Holter-electrocardiogram recording showed paroxysmal atrial fibrillation. One notable value in the urine analysis was microalbuminuria of 281 mg/L. In view of the multi-organic involvement and the family history, a study for Fabry's disease was performed. Activity of the enzyme alpha-galactosidase A was diminished, and the presence of a mutation in the GLA gene was found. The patient's brother, who suffered from kidney failure and atrial fibrillation, was positive for this mutation. The patient is on treatment with agalsidase beta. CONCLUSIONS: Fabry's disease must be suspected in young males with heart disease, stroke or peripheral neuropathy, skin lesions, kidney failure and a history of cases in the family. Hormone replacement therapy must be established at an early stage, as it can improve the prognosis.

TITLE: Ictus criptogenico en un paciente joven con cardiopatia y fallo renal.Introduccion. La enfermedad de Fabry es una patologia metabolica infrecuente ligada al cromosoma X, que provoca una amplia variedad de signos y sintomas. Caso clinico. Varon de 39 antilde;os que ingreso en nuestra unidad de ictus con hemiparesia derecha (1 + 0) y disartria (1). La puntuacion en la National Institute of Health Stroke Scale era de 2. Presentaba angioqueratomas en ambos muslos. La tomografia axial computarizada craneal mostraba un infarto agudo talamico izquierdo. El duplex de los troncos supraaorticos era normal, y el Doppler transcraneal reflejaba un aumento generalizado de los indices de pulsatilidad. El ecocardiograma transtoracico mostraba hipertrofia ventricular izquierda y dilatacion de la auricula izquierda. Recibio el alta cinco dias despues, asintomatico, con antiagregacion. El registro Holter-electrocardiografico prolongado mostraba fibrilacion auricular paroxistica. En la analitica de orina destacaba microalbuminuria de 281 mg/L. En vista de la afectacion multiorganica y la historia familiar, se curso estudio de enfermedad de Fabry. La actividad de la enzima alfa-galactosidasa-A se encontro disminuida, y se demostro la presencia de una mutacion en el gen GLA. Su hermano, que padecia insuficiencia renal y fibrilacion auricular, fue positivo para dicha mutacion. El paciente se encuentra en tratamiento con agalsidasa beta. Conclusiones. La enfermedad de Fabry debe sospecharse en varones jovenes con cardiopatia, ictus o neuropatia periferica, lesiones cutaneas, fallo renal e historia de familiares afectos. El tratamiento hormonal sustitutivo debe comenzarse precozmente, ya que puede mejorar el pronostico.

Eficacia del levetiracetam en pacientes con síndrome de Lennox-Gastaut. Presentación de un caso / Levetiracetam efficacy in patients with Lennox-Gastaut syndrome. Presentation of a case

Introducción: El síndrome de Lennox-Gastaut (SLG) es una de las encefalopatías epilépticas más severas de la infancia, caracterizada por la tríada electroclínica de actividad generalizada de punta onda lenta (POL) en el electroencefalograma (EEG), múltiples tipos de crisis epilépticas y retraso mental. Con este trabajo pretendemos describir el cuadro sindrómico en un paciente con antecedente de encefalopatía hipóxico-isquémica y SLG, y su respuesta al tratamiento con levetiracetam (LEV). Método: Estudio descriptivo evolutivo de un niño de 3 años con antecedentes obstétricos de asfixia intrauterina y repercusión multiorgánica, acidosis metabólica, shock hipovolémico y crisis convulsivas con edema cerebral que a los pocos meses de edad desarrolla un síndrome de West, resistente al tratamiento farmacológico. Progresivamente, la semiología de las crisis cambia a episodios de hipertonía generalizada y mioclonías, con actividad electroencefalográfica de punta-onda lenta. Resultados: Con el diagnóstico de SLG se inicia tratamiento con LEV, observándose una mejoría sustancial en la esfera cognitiva, en el control de las crisis, y en los hallazgos electroencefalográficos. Conclusiones: El SLG es uno de los síndromes epilépticos más graves en los pacientes pediátricos, tanto por su semiología como por su farmacorresistencia. El levetiracetam puede producir una mejoría cognitiva, además de contribuir al control de las crisis en estos pacientes (AU)

Introduction: The Lennox-Gastaut syndrome (LGS) is one of the most severe epileptic encephalopathies of childhood, characterized by electro-clinical triad of generalized spike-wave activity, slow (POL) in the electroencephalogram (EEG), multiple types of seizures and development delay. This paper intends to describe the syndrome in a patient with a history of hypoxic-ischaemic encephalopathy and Lennox-Gastaut syndrome, and a good response to treatment with levetiracetam (LEV). Method: Descriptive study on the development of a 3 year old child with intrauterine asphyxia, multiorgan failure, metabolic acidosis, hypovolemic shock, and seizures with cerebral oedema, who developed a West syndrome, resistant to drug treatment. The semiology of seizures progressively changed to generalized episodes of hypertonia and myoclonus, with slow spike-wave electroencephalographic activity. Results: With the diagnosis of Lennox-Gastaut syndrome the patient was treated with levetiracetam, showing a substantial improvement in the cognitive sphere, in the control of seizures, and electroencephalographic findings. Conclusions: Lennox-Gastaut syndrome is one of the most severe epileptic syndromes in paediatric patients. Levetiracetam can help cognitive improvement, and contribute to seizure control in these patients (AU)

Levetiracetam efficacy in patients with Lennox-Gastaut syndrome. Presentation of a case.

INTRODUCTION: The Lennox-Gastaut syndrome (LGS) is one of the most severe epileptic encephalopathies of childhood, characterized by electro-clinical triad of generalized spike-wave activity, slow (POL) in the electroencephalogram (EEG), multiple types of seizures and development delay. This paper intends to describe the syndrome in a patient with a history of hypoxic-ischaemic encephalopathy and Lennox-Gastaut syndrome, and a good response to treatment with levetiracetam (LEV). METHOD: Descriptive study on the development of a 3 year old child with intrauterine asphyxia, multiorgan failure, metabolic acidosis, hypovolemic shock, and seizures with cerebral oedema, who developed a West syndrome, resistant to drug treatment. The semiology of seizures progressively changed to generalized episodes of hypertonia and myoclonus, with slow spike-wave electroencephalographic activity. RESULTS: With the diagnosis of Lennox-Gastaut syndrome the patient was treated with levetiracetam, showing a substantial improvement in the cognitive sphere, in the control of seizures, and electroencephalographic findings. CONCLUSIONS: Lennox-Gastaut syndrome is one of the most severe epileptic syndromes in paediatric patients. Levetiracetam can help cognitive improvement, and contribute to seizure control in these patients.

Síndrome de Panayiotopoulos: a propósito de dos casos en hermanos gemelos / Panayiotopoulos syndrome: a report of two cases in twin brothers

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