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Several papers have been published suggesting a probable role of inflammatory factors in the etiopathogenesis of migraine. In this study, we investigated the possible association between common variants in the LAG3/CD4 genes (both genes, which are closely related, encode proteins involved in inflammatory and autoimmune responses) in the risk of migraine in a cohort of Caucasian Spanish participants. For this purpose, the frequencies of CD4 rs1922452, CD4 rs951818, and LAG3 rs870849 genotypes and allelic variants, using a specific TaqMan-based qPCR assay, were assessed in 290 patients diagnosed with migraine and in 300 healthy controls. The relationship of these variables with several clinical features of migraine was also analyzed. The frequencies of the analyzed LAG3/CD4 genotypes did not differ significantly between the two study groups and were not related to the sex, age at onset of migraine, family history of migraine, presence or absence of aura, or the triggering effect of ethanol on migraine episodes. These results suggest a lack of association between common variants in the LAG3/CD4 genes and the risk of developing migraine in the Caucasian Spanish population.

Histamine has shown a possible role in the etiopathogenesis of migraine. It has been reported an association between some polymorphisms in the diamine oxidase (DAO) gene and migraine, especially in women. Two studies addressing DAO activity in migraine patients showed conflicting results. We investigated the possible relationship of serum DAO activity and histamine levels and 3 polymorphisms in the DAO gene with the risk for migraine.We studied the frequencies of DAO rs10156191, rs1049742 and rs1049793 genotypes and allelic variants in 298 migraine patients and 360 healthy controls (using a TaqMan-based qPCR assay), and serum DAO activity and histamine levels in a subset of 99 migraine patients and 115 controls with strict exclusion criteria, and analysed the relationship of these variables with several clinical features of migraine.The frequencies of the DAO genotypes and allelic variants analysed were similar in migraine patients and controls. Serum DAO activity was significantly higher in migraine patients (Vmax/Km 4.24 ± 2.93 vs. 3.60 ± 7.64, p 0.001), especially in females (Vmax/Km 4.63 ± 2.96 vs. 3.18 ± 2.32, p 0.0001), while serum histamine was similar in both study groups.Serum DAO activity was increased in patients with migraine, especially in females, while serum histamine levels were normal. None of the studied polymorphisms was associated with the risk for migraine.

According to several studies, inflammatory factors could be related to the pathogenesis of idiopathic restless legs syndrome (RLS). In addition, RLS and Parkinson’s disease (PD) have shown a possible relationship, and recent studies have shown an association between CD4 rs1922452 and CD4 rs951818 single nucleotide variants (SNVs) and the risk for PD. For these reasons, we investigated the possible association between common variants in the LAG3/CD4 genes (which encoded proteins involved in inflammatory and autoimmune responses) and the risk for RLS in a Caucasian Spanish population. We assessed the frequencies of CD4 rs1922452, CD4 rs951818, and LAG3 rs870849 genotypes and allelic variants in 285 patients with idiopathic RLS and 350 healthy controls using a specific TaqMan-based qPCR assay. We also analyzed the possible influence of the genotypes’ frequencies on several variables, including age at onset of RLS, gender, family history of RLS, and response to drugs commonly used in the treatment of RLS. We found a lack of association between the frequencies of genotypes and allelic variants of the 3 SNVs studied and the risk of RLS, and a weak though significant association between the CD4 rs1922452 GG genotype and an older age at onset of RLS. With the exception of this association, our findings suggest that common SNVs in the CD4/LAG3 genes are not associated with the risk of developing idiopathic RLS in Caucasian Spanish people.

Several studies showed lower serum 25-hydroxyvitamin D levels in patients with idiopathic restless legs syndrome (RLS) compared with matched controls, and a single study showed an association between the rs731236 single nucleotide polymorphism (SNP) in the vitamin D receptor (VDR) gene and the risk for RLS. We aimed to study the relationship between the serum 25-hydroxyvitamin D levels and to confirm previous findings related to SNPs in the VDR and the GC vitamin D binding protein (GC) gene, with the risk for RLS in the Spanish Caucasian population. We genotyped 285 idiopathic RLS patients and 325 age and sex-matched controls for VDRrs2228750, VDRrs7975232, VDRrs739837, VDRrs78783628, GCrs7041 and GCrs4588 SNPs using TaqMan assays, and determined serum 25-hydroxyvitamin D levels in 111 idiopathic RLS patients and 167 controls using an ELISA commercial kit. Serum 25-hydroxyvitamin D levels were significantly higher in RLS patients than in controls but were unrelated with the 7 SNPs studied. None of the 7 SNPs analyzed was associated with the risk for idiopathic RLS or with a positive family history of RLS. However, RLS patients carrying the rs7975232CC genotype or the rs7975232C allele, had a higher frequency of response to GABAergic drugs. Associations between the age at onset and the severity of RLS with SNPs were inconsistent. This study shows an association between increased serum concentrations of 25-hydroxyvitamin D and a lack of association between 7 SNPs in the VDR and in the GC genes with RLS in the Spanish Caucasian population.

Resumen Introduccion El tratamiento trombolitico del ictus isquemico agudo es una medida de alta eficacia, pero que acarrea riesgos importantes. A diferencia del tratamiento del infarto agudo de miocardio, el hematoma subdural como consecuencia del tratamiento trombolitico intravenoso del ictus isquemico no ha sido descrito previamente. Caso clinico Presentamos una paciente con un ictus isquemico que recibe tratamiento trombolitico intravenoso, y sufre un hematoma subdural de gran tamano en la convexidad derecha como consecuencia del mismo. Conclusiones El hematoma subdural tras tratamiento trombolitico intravenoso es excepcional. Este caso puede ser la primera publicacion de un hematoma subdural tras tratamiento trombolitico intravenoso del ictus isquemico.

Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is a rare inflammatory disease, generally of unknown aetiology, affecting the choriocapillaris, the pigment epithelium and the outer retina. It predominantly affects young patients and in some cases may involve the central nervous system in the form of strokes or meningoencephalitis. We report the clinical case of a young female with APMPPE that was complicated by stroke and intracranial hypertension.Our patient was a 16-year-old female who began with intense headaches suggesting intracranial hyper-tension, as well as with an acute deficit in the left hemisphere. A magnetic resonance scan of the head revealed embolic or vasculitic lesions in different territories. No evidence of meningoencephalitis was found in the cerebrospinal fluid analysis, but signs of associated intracranial hypertension were observed. The presence of very specific lesions in the posterior pole of the eye led to a diagnosis of APMPPE complicated by ischaemic stroke, probably caused by a vasculitic mechanism. An extensive aetiological study failed to identify a clear precipitating factor underlying the process. Treatment with corticoids was established, with good clinical and radiological progression.APMPPE is an infrequent condition that generally has a good prognosis. In some cases, however, complications may arise owing to involvement of the central nervous system, and ischaemic stroke secondary to vasculitis is the most severe complication. In young patients with stroke who present visual symptoms and chorioretinital lesions, APMPPE must be considered in the aetiological diagnosis.Epiteliopatia pigmentaria placoide multifocal posterior aguda. Una rara causa de ictus isquemico.Introduccion. La epiteliopatia pigmentaria placoide multifocal posterior aguda (EPPMPA) es una enfermedad inflamatoria rara, generalmente de etiologia indeterminada, de la coriocapilar, el epitelio pigmentario y la retina externa. Afecta predominantemente a pacientes jovenes y en algunos casos puede involucrar al sistema nervioso central en forma de ictus o de meningoencefalitis. Presentamos el caso clinico de una mujer joven con EPPMPA complicada con ictus e hipertension intracraneal. Caso clinico. Mujer de 16 anos que comienza con cefalea intensa sugestiva de hipertension intracraneal, asi como con un deficit agudo hemisferico izquierdo. La resonancia magnetica craneal ponia de manifiesto lesiones embolicas o vasculiticas en diferentes territorios. No se evidenciaron datos de meningoencefalitis en el estudio del liquido cefalorraquideo, pero si de hipertension intracraneal asociada. La presencia de lesiones muy especificas en el polo ocular posterior permitio el diagnostico de EPPMPA complicada con ictus isquemico, probablemente por mecanismo vasculitico. Un amplio estudio etiologico fue negativo para identificar un factor desencadenante claro del proceso. Se inicio tratamiento corticoideo con buena evolucion clinica y radiologica. Conclusiones. La EPPMPA es una entidad rara que generalmente entrana buen pronostico; sin embargo, en algunos casos puede complicarse con afectacion del sistema nervioso central, y el ictus isquemico secundario a vasculitis es la complicacion mas grave. Ante un paciente joven con ictus que presente sintomatologia visual y lesiones coriorretinianas, debe considerarse la EPPMPA en su diagnostico etiologico.

Introduccion. La epiteliopatia pigmentaria placoide multifocal posterior aguda (EPPMPA) es una enfermedad inflamatoria rara, generalmente de etiologia indeterminada, de la coriocapilar, el epitelio pigmentario y la retina externa. Afecta predominantemente a pacientes jovenes y en algunos casos puede involucrar al sistema nervioso central en forma de ictus o de meningoencefalitis. Presentamos el caso clinico de una mujer joven con EPPMPA complicada con ictus e hipertension intracraneal. Caso clinico. Mujer de 16 anos que comienza con cefalea intensa sugestiva de hipertension intracraneal, asi como con un deficit agudo hemisferico izquierdo. La resonancia magnetica craneal ponia de manifiesto lesiones embolicas o vasculiticas en diferentes territorios. No se evidenciaron datos de meningoencefalitis en el estudio del liquido cefalorraquideo, pero si de hipertension intracraneal asociada. La presencia de lesiones muy especificas en el polo ocular posterior permitio el diagnostico de EPPMPA complicada con ictus isquemico, probablemente por mecanismo vasculitico. Un amplio estudio etiologico fue negativo para identificar un factor desencadenante claro del proceso. Se inicio tratamiento corticoideo con buena evolucion clinica y radiologica. Conclusiones. La EPPMPA es una entidad rara que generalmente entrana buen pronostico; sin embargo, en algunos casos puede complicarse con afectacion del sistema nervioso central, y el ictus isquemico secundario a vasculitis es la complicacion mas grave. Ante un paciente joven con ictus que presente sintomatologia visual y lesiones coriorretinianas, debe considerarse la EPPMPA en su diagnostico etiologico.

Introduccion. La displasia fibrosa es una enfermedad osea benigna que suele cursar con lesiones asintomaticas pero que en ocasiones puede dar manifestaciones neurologicas por afectacion de los huesos craneofaciales. Caso clinico. Mujer de 25 anos, con antecedentes de migrana, que consulto a los 18 anos por un cuadro de dolor en la region maxilar y retrocular derecha de caracteristicas diferentes de las de su migrana habitual y que asocia oftalmoparesia ipsolateral; presenta un curso autolimitado con buena respuesta a corticoides, aunque recidivante. La exploracion puso de manifiesto un intenso dolor a la palpacion en el seno maxilar derecho y paralisis incompleta del III par craneal ipsolateral con ptosis palpebral. Los estudios complementarios fueron normales, salvo la resonancia magnetica craneal y la tomografia axial computarizada facial, donde se evidencio una lesion expansiva con afectacion del seno maxilar superior derecho y el ala mayor del esfenoides, con probable afectacion de la hendidura esfenoidal, compatible con el diagnostico de displasia fibrosa, que fue confirmado mediante estudio anatomopatologico. Conclusiones. La displasia fibrosa es un trastorno oseo benigno cuya etiologia se desconoce y que consiste en la sustitucion del tejido oseo normal por tejido conjuntivo amorfo. En ocasiones, existe afectacion craneofacial y se forma una masa osea hipertrofica que puede ocupar los senos paranasales y la orbita, y dar lugar a exoftalmos y alteraciones visuales. Hasta el momento, no se ha descrito en la bibliografia cientifica la manifestacion de esta enfermedad en forma de brotes de oftalmoparesia dolorosa recurrente con respuesta a corticoides, como ocurre en nuestra paciente.