Study of the possible link of 25-hydroxyvitamin D with Epstein-Barr virus and human herpesvirus 6 in patients with multiple sclerosis.

BACKGROUND AND PURPOSE: Although the causes of multiple sclerosis (MS) remain partially unknown, environmental and genetic factors are thought to play a role in its aetiopathogenesis. Hypovitaminosis D, Epstein-Barr virus (EBV) and human herpesvirus 6 (HHV-6) infections have been described as possible MS triggers. Our aim was to analyse the possible link between 25-hydroxyvitamin D [25(OH)D] and viruses in patients with MS. METHODS: We included 482 patients with MS in a 2-year study. Serum samples were collected to analyse 25(OH)D levels and, according to sample availability, antibody titres against EBV and HHV-6 by enzyme-linked immunosorbent assay. DNA was extracted from blood in order to analyse EBV and HHV-6 viral load by quantitative real-time polymerase chain reaction and to genotype MS-related single nucleotide polymorphisms (rs3135388, rs2248359 and rs12368653) when possible. RESULTS: The 25(OH)D levels were significantly higher in the first semester of the year than in the second. Carriers of the risk allele rs2248359-C showed lower 25(OH)D levels than non-carriers. For EBV, viral load was significantly higher when 25(OH)D levels were low, demonstrating an inverse correlation between 25(OH)D levels and EBV load. CONCLUSIONS: The 25(OH)D levels could be involved in the regulation of EBV replication/reactivation in patients with MS.

[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.