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3. Ictus criptogénico en un paciente joven con cardiopatía y fallo renal

Author

Alegria E, Oyanguren B, Gonzalez-Salaices M, Lopez de Silanes C, Segoviano R, Eimil-Ortiz M, and Besada E

Subjects
Cryptogenic stroke, Gynecology, medicine.medical_specialty, Heart disease, business.industry, medicine, Neurology (clinical), General Medicine, medicine.disease, business
Abstract

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.

Published
2017
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7. Prevalence of asymptomatic peripheral artery disease in patients with non-cardioembolic ischemic stroke,Prevalencia de enfermedad arterial periférica asintomática en pacientes con ictus isquémico no cardioembólico

Author

Álvarez-Sabín, J., Gil-Núñez, A., Quintana, M., Barbera, G., Alonso Leciñana Cases, M., Calleja Puerta, S., Casado Naranjo, I., Díez Tejedor, E., Escamilla Crespo, C., Fernández Fernández, O., Gállego Cullere, J., Lago Martín, A., López Fernández, J. C., Maestre Moreno, J., Martí-Fábregas, J., Martín González, R., Obach Tuca, V., Rebollo Álvarez-Amandi, M., Romero López, J., Rubio Borrego, F., Gómez Díaz-Castroverde, A., Vidal Sánchez, J. A., Moris La Tassa, G., Tejada García, J., Timiraos Fernández, J. J., Pérez Concha, T., Revilla García, M. A., Guereca Baranaiarn, L., Urtasunocariz, M., Ríos Gómez, C., Tejero Juste, C., García Gómara, M. J., Bravo Anguiano, Y., Gil Pujades, A., Palacios Marchesini, M., García Sánchez, S., Cano Orgaz, A., Purroy García, F., Obach Baurier, V., Arboix Damunt, A., Sanclemente Ansó, C., Rey Pérez, A., Canovas Verge, D., Fabregat Fabra, N., Rodríguez Campello, A., Comas Bergua, P., Cardona Cortela, P., Garcés Redondo, M., Robles Del Olmo, B., Olivella Rius, J., Martínez Ramírez, S., Torres Rodríguez, M. J., Pareja Martínez, A., Chamarro Lázaro, R., Pons Amate, J. M., Romero Martínez, M. A., Galiano Blancart, R. F., Vilar Fabra, C., Domínguez Sanz, F., Gracia Fleta, F., Plaza Macías, I., Villaverde González, R., Salamero Martínez, J. J., Medrano Martínez, V., Tortosa Conesa, D., Soria Torrecillas, J. J., Marey López, J., Romero López, J. M., Lustres Pérez, M., Ortega Casarrubios, M. A., Egido Herrero, J. A., Ruiz Ezquerro, J. J., Gómez Sánchez, J. C., Martín Polo, J., Gutiérrez Martin, F., Calleja Sanz, A. I., Peñas Martínez, M. L., Rojo Martínez, E., López Manzanares, L., Domingo García, J., García Castañón, I., Díaz Guzmán, J., Hernández Gallego, J. M., Sánchez Sánchez, C., Eimil Ortiz, M., González Santiago, R., Zabala Goiburu, J. A., Sánchez Del Valle, O., Morín Martín, M. M., Jiménez Caballero, P. E., Ferrero Ros, M., Vallejo Maroto, I., Gil Peralta, A., Aguilera Navarro, J. M., Carmona Nimo, E., García Moreno, J. M., Cueli Rincón, B., Hernández Ramos, F., Martínez Laso, A., Pilo La Fuente, B., Puerto Alonso, J. L., Tamayo Toledo, J. A., Moya Molina, M. A., Márquez Martínez, M., Gálvez Gálvez, C., Girón Úbeda, J. M., Del Saz Saucedo, P., Fernández Pérez, M. D., Antonio Arjona-Padillo, Olivares Romero, J., Peinado Cantero, M. L., Villegas Rodríguez, I., Vega Pérez, J. M., Maestre Martínez, M. A., Portillo Rivero, M. R., Sánchez Ortiz, C., Ochoa Sepúlveda, J. J., Bescansa Heredero, E., Vega López, O., Suárez Cuervo, A., Pueyo Morlans, M., Medina Rodríguez, A., Sáenz Galván, C., Marrero Falcón, C., and Mirdavood, S.

8. Prevalence of asymptomatic peripheral artery disease in patients with non-cardioembolic ischemic stroke | Prevalencia de enfermedad arterial periférica asintomática en pacientes con ictus isquémico no cardioembólico

Author

Jose Alvarez-Sabin, Gil-Núñez, A., Quintana, M., Barbera, G., Álvarez-Sabín, J., Alonso Leciñana Cases, M., Calleja Puerta, S., Casado Naranjo, I., Díez Tejedor, E., Escamilla Crespo, C., Fernández Fernández, O., Gállego Cullere, J., Lago Martín, A., López Fernández, J. C., Maestre Moreno, J., Martí-Fábregas, J., Martín González, R., Obach Tuca, V., Rebollo Álvarez-Amandi, M., Romero López, J., Rubio Borrego, F., Gómez Díaz-Castroverde, A., Vidal Sánchez, J. A., Moris La Tassa, G., Tejada García, J., Timiraos Fernández, J. J., Pérez Concha, T., Revilla García, M. A., Guereca Baranaiarn, L., Urtasunocariz, M., Ríos Gómez, C., Tejero Juste, C., García Gómara, M. J., Bravo Anguiano, Y., Gil Pujades, A., Palacios Marchesini, M., García Sánchez, S., Cano Orgaz, A., Purroy García, F., Obach Baurier, V., Arboix Damunt, A., Sanclemente Ansó, C., Rey Pérez, A., Canovas Verge, D., Fabregat Fabra, N., Rodríguez Campello, A., Comas Bergua, P., Cardona Cortela, P., Garcés Redondo, M., Robles Del Olmo, B., Olivella Rius, J., Martínez Ramírez, S., Torres Rodríguez, M. J., Pareja Martínez, A., Chamarro Lázaro, R., Pons Amate, J. M., Romero Martínez, M. A., Galiano Blancart, R. F., Vilar Fabra, C., Domínguez Sanz, F., Gracia Fleta, F., Plaza Macías, I., Villaverde González, R., Salamero Martínez, J. J., Medrano Martínez, V., Tortosa Conesa, D., Soria Torrecillas, J. J., Marey López, J., Romero López, J. M., Lustres Pérez, M., Ortega Casarrubios, M. A., Egido Herrero, J. A., Ruiz Ezquerro, J. J., Gómez Sánchez, J. C., Martín Polo, J., Gutiérrez Martin, F., Calleja Sanz, A. I., Peñas Martínez, M. L., Rojo Martínez, E., López Manzanares, L., Domingo García, J., García Castañón, I., Díaz Guzmán, J., Hernández Gallego, J. M., Sánchez Sánchez, C., Eimil Ortiz, M., González Santiago, R., Zabala Goiburu, J. A., Sánchez Del Valle, O., Morín Martín, M. M., Jiménez Caballero, P. E., Ferrero Ros, M., Vallejo Maroto, I., Gil Peralta, A., Aguilera Navarro, J. M., Carmona Nimo, E., García Moreno, J. M., Cueli Rincón, B., Hernández Ramos, F., Martínez Laso, A., Pilo La Fuente, B., Puerto Alonso, J. L., Tamayo Toledo, J. A., Moya Molina, M. A., Márquez Martínez, M., Gálvez Gálvez, C., Girón Úbeda, J. M., Del Saz Saucedo, P., Fernández Pérez, M. D., Arjona Padillo, A., Olivares Romero, J., Peinado Cantero, M. L., Villegas Rodríguez, I., Vega Pérez, J. M., Maestre Martínez, M. A., Portillo Rivero, M. R., Sánchez Ortiz, C., Ochoa Sepúlveda, J. J., Bescansa Heredero, E., Vega López, O., Suárez Cuervo, A., Pueyo Morlans, M., Medina Rodríguez, A., Sáenz Galván, C., Marrero Falcón, C., and Mirdavood, S.

9. [Cryptogenic stroke in a young patient with heart disease and kidney failure].

Author

Oyanguren B, Segoviano R, Alegria E, Besada E, Gonzalez-Salaices M, Eimil-Ortiz M, and Lopez de Silanes C

Subjects
Adult, Algorithms, Atrial Fibrillation etiology, Child, Dysarthria etiology, Enzyme Replacement Therapy, Fabry Disease diagnosis, Fabry Disease drug therapy, Fabry Disease genetics, Family Health, Female, Humans, Hypertrophy, Left Ventricular etiology, Kidney Failure, Chronic etiology, Male, Middle Aged, Mutation, Paresis etiology, alpha-Galactosidase genetics, alpha-Galactosidase therapeutic use, Cerebral Infarction etiology, Fabry Disease complications, Thalamus blood supply
Abstract

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.

Published
2017

11. [Neuromyotonia and oncocytic tumour of the thyroid: a paraneoplastic association?].

Author

Eimil-Ortiz M, Fontán-Tirado C, Cantarero-Duque S, Fernández-Cabredo L, Villar-Villar ME, and Martín-González E

Subjects
Aged, Diagnosis, Differential, Female, Humans, Isaacs Syndrome pathology, Isaacs Syndrome physiopathology, Paraneoplastic Syndromes pathology, Paraneoplastic Syndromes physiopathology, Thyroid Neoplasms pathology, Thyroid Neoplasms physiopathology
Published
2009

12. Pseudo-cluster-like headache secondary to contralateral epidermoid cyst of the pontocerebellar angle.

Author

Eimil-Ortiz M, María-Salgado F, Fontán-Tirado C, González-Santiago R, Villar-Villar ME, and Martín E

Subjects
Cerebellar Diseases pathology, Cerebellopontine Angle surgery, Diagnosis, Differential, Epidermal Cyst pathology, Epidermal Cyst surgery, Functional Laterality, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Cerebellar Diseases complications, Cerebellopontine Angle pathology, Epidermal Cyst complications, Headache etiology
Abstract

Cluster-like headaches have been described as secondary to several intracranial lesions. We report the case of a 47-year-old man who presented with a throbbing periocular pain associated with lacrimation and red eye. A contralateral epidermoid cyst was detected in the magnetic resonance imaging.

Published
2008
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13. [Meropenem and valproic acid: a dangerous combination].

Author

Eimil-Ortiz M, Aguirre-Mollehuanca D, Sierra-Limpo A, Fontán-Tirado C, and Villar-Villar ME

Subjects
Adult, Drug Interactions, Female, Humans, Meropenem, Anti-Bacterial Agents adverse effects, Anticonvulsants adverse effects, Thienamycins adverse effects, Valproic Acid adverse effects
Published
2008

14. [A new case of cryptococcal meningitis in an immunocompetent patient].

Author

Kurtis-Urra M, García-García AM, Marcos-Dolado A, Dávila-González P, and Eimil-Ortiz M

Subjects
Adult, Animals, Birds microbiology, Female, Humans, Meningitis, Cryptococcal microbiology, Meningitis, Cryptococcal physiopathology, Immunocompetence, Meningitis, Cryptococcal diagnosis
Published
2004

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