Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering.

Defects in the HEXB gene which encodes the ß-subunit of ß-hexosaminidase A and B enzymes, cause a GM2 gangliosidosis, also known as Sandhoff disease, which is a rare lysosomal storage disorder. The most common form of the disease lead to quickly progressing mental and motor decline in infancy; however there are other less severe forms with later onset that can also involve lower motor neurons. The diagnosis of this disease is based on low serum ß-hexosaminidases A and B levels and confirmed using genetic test. We report two siblings with compound heterozygous HEXB mutations whose phenotype was extremely mild consisting in stuttering in both cases associated to mild proximal weakness in one of the cases, broadening the clinical spectrum of late onset Sandhoff disease.

Rhombencephalitis due to Listeria monocytogenes: A Clinicopathologic Study of a Case.

INTRODUCTION: Central nervous system infections caused by Listeria monocytogenes usually manifest in the form of meningitis or meningoencephalitis, and are more common among immunosuppressed patients. Brainstem encephalitis (rhombencephalitis) is less common and fatal if not recognized and treated early. CASE REPORT: We describe the case of a 40-year-old, immunocompetent male patient, who presented with initial symptoms of high fever and productive cough. Signs of brainstem involvement appeared later. A magnetic resonance imaging of the brain revealed a lesion of inflammatory appearance in the right medulla oblongata, and the cerebrospinal fluid test showed mononuclear pleocytosis. Blood and cerebrospinal fluid cultures were negative. He presented with a significant improvement with the start of ceftriaxone and subsequent association of corticosteroids, until he developed respiratory failure and died. The third blood cultures grew after his death and they were positive for L. monocytogenes. An autopsy was carried out, which showed necrotizing inflammation, with gram-positive bacilli in the brainstem and the cerebellum. CONCLUSIONS: A fatal delay in the diagnosis occurred, mainly because of the favorable clinical response to ceftriaxone and corticosteroids. This case reminds us that a febrile clinical presentation with brainstem involvement must generate the suspicion of a Listeria infection, and therefore ampicillin must be a part of the empirical treatment.

El audit como herramienta de mejora continua en el Plan de Atención al Ictus de Aragón / Auditing as a tool for ongoing improvement in the Stroke Care Plan of the Region of Aragón

Introducción. El Plan de Atención al Ictus de Aragón (PAIA) se creó en 2008 en el marco de la Estrategia Nacional en Ictus del Sistema Nacional de Salud. La monitorización de la atención hospitalaria al ictus mediante auditorías periódicas se definió como una de sus líneas de trabajo. Objetivo. Determinar la calidad del proceso asistencial hospitalario prestado al paciente con ictus en Aragón mediante el uso de indicadores de calidad. Materiales y métodos. Se realizaron tres audits (en los años 2008, 2010 y 2012) siguiendo la misma metodología, basada en la revisión retrospectiva de una muestra representativa de ingresos por ictus en cada uno de los hospitales generales del Servicio Aragonés de Salud. Se recogió información sobre 48 indicadores seleccionados según su evidencia científica o relevancia clínica. Resultados. Se estudiaron 1.011 casos (331 en el primer audit, y 340 en el segundo y en el tercero). Treinta y un indicadores presentaron una mejoría significativa (entre ellos destacan los indicadores de calidad de la historia clínica, de evaluación neurológica, las medidas preventivas iniciales y, con especial relevancia, la realización de test de deglución), dos sufrieron empeoramiento (relacionados con el tratamiento rehabilitador) y 15 no registraron variaciones significativas. Conclusiones. La implantación del PAIA ha supuesto una mejoría notable en la mayoría de los indicadores de calidad evaluados, reflejo de una mejora continua en la atención hospitalaria del ictus. La generalización progresiva de la atención especializada y la creación de las áreas de ictus son algunos de los factores determinantes (AU)

Introduction. The Aragón Stroke Care Plan (PAIA) was created in 2008 within the framework of the Spanish National Health System. Monitoring hospital care of strokes by means of periodic audits was defined as one of its lines of work. Aim. To determine the quality of the hospital care process for stroke patients in Aragón by using quality indicators. Materials and methods. Three audits were carried out (in the years 2008, 2010 and 2012) following the same methodology, based on the retrospective review of a representative sample of admissions due to stroke in each of the general hospitals belonging to the Aragonese Health Service. Information was collected on 48 indicators selected according to their scientific evidence or clinical relevance. Results. Altogether 1011 cases were studied (331 in the first audit, and 340 in the second and the third). Thirty-one indicators showed a significant improvement (some of the most notable being the indicators of quality of the medical record, neurological assessment, initial preventive measures and, especially relevant, performing the swallowing test), two underwent a decline in their condition (related with rehabilitation treatment) and 15 did not register any significant variation. Conclusions. The implementation of the PAIA has given rise to a notable improvement in most of the quality indicators evaluated, which reflects an ongoing improvement in hospital stroke care. The progressive generalisation of specialised care and the creation of stroke units are some of the determining factors (AU)

Síndrome opercular anterior epiléptico en un adulto / Epileptic opercular syndrome in an adult patient

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Coincidencia temporal de miastenia grave y síndrome de Guillain-Barré: primer caso publicado en España / Simultaneous myasthenia gravis and Guillain-Barre syndrome: the first case reported in Spain

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Coincidencia temporal de miastenia grave y síndrome de Guillain-Barré: primer caso publicado en España / Simultaneous myasthenia gravis and Guillain-Barré syndrome: the first case reported in Spain

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Agenesia de la arteria carótida interna en un paciente con patología vascular, epilepsia y amnesia global transitoria / Agenesis of the internal carotid artery in a patient with vascular pathology, epilepsy and transient global amnesia

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Insuficiencia respiratoria aguda en el postoperatorio de cirugía abdominal, una forma infrecuente de presentación de la esclerosis lateral amiotrófica / Acute respiratory failure in the post-operative period following abdominal surgery, an infrequent presenting symptom of amyotrophic lateral sclerosis

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