Paediatric stroke in the northern Spanish region of Aragon: incidence, clinical characteristics, and outcomes.

BACKGROUND: Recent years have seen considerable changes in the prevention and treatment of acute ischaemic stroke in adult patients. However, the low incidence of paediatric stroke makes the development of specific guidelines more challenging. This study aims to clarify the situation of these children in our region in order to establish a regional protocol to improve the care provided to these patients. METHODS: We performed a regional incidence study of pediatric stroke (≤ 15 years of age) in Aragon, Spain (1308728 population, 15% aged ≤ 15 years) between 2008 and 2019. Data were obtained from hospital discharge records, including deaths, from the regional health service of Aragón, according to ICD codes for cerebrovascular disease. We analysed demographic, clinical, diagnostic/therapeutic, and prognostic variables. RESULTS: A total of 21 events were recorded: 8 ischaemic (38.1%) and 13 haemorrhagic strokes (61.9%). The mean age (SD) was 9.3 years (1.0). The sample included 12 boys and nine girls. No statistically significant differences were found between ischaemic and haemorrhagic strokes, except in the chief complaint (language and motor impairment in ischaemic stroke and headache in haemorrhagic stroke). None of the patients with ischaemic stroke received reperfusion therapies. Including the 3 patients who died during hospitalisation, eight patients (42.1%) had modified Rankin Scale scores > 2 at 12 months. Motor deficits were the most common sequela (n=9). CONCLUSION: Though infrequent, paediatric stroke has an important functional impact. In Spain, Madrid was the first region to adapt the existing code stroke care networks for adult patients. In Aragon, this review has enabled us to work closely with the different stakeholders to offer a care plan for acute paediatric ischaemic stroke. Nevertheless, prospective national registries would be valuable to continue improving the care provided to these patients.

Epidemiology and characteristics of ischaemic stroke in young adults in Aragon.

INTRODUCTION: Stroke affects around 15 million people per year, with 10%-15% occurring in individuals under 50 years old (stroke in young adults). The prevalence of different vascular risk factors and healthcare strategies for stroke management vary worldwide, making the epidemiology and specific characteristics of stroke in each region an important area of research. This study aimed to determine the prevalence of different vascular risk factors and the aetiology and characteristics of ischaemic stroke in young adults in the autonomous community of Aragon, Spain. METHODS: A cross-sectional, multi-centre study was conducted by the neurology departments of all hospitals in the Aragonese Health Service. We identified all patients aged between 18 and 50 years who were admitted to any of these hospitals with a diagnosis of ischaemic stroke or TIA between January 2005 and December 2015. Data were collected on demographic variables, vascular risk factors, and type of stroke, among other variables. RESULTS: During the study period, 786 patients between 18 and 50 years old were admitted with a diagnosis of ischaemic stroke or TIA to any hospital of Aragon, at a mean annual rate of 12.3 per 100 000 population. The median age was 45 years (IQR: 40-48 years). The most prevalent vascular risk factor was tobacco use, in 404 patients (51.4%). The majority of strokes were of undetermined cause (36.2%), followed by other causes (26.5%). The median NIHSS score was 3.5 (IQR: 2.0-7.0). In total, 211 patients (26.8%) presented TIA. Fifty-nine per cent of the patients admitted with a diagnosis of ischaemic stroke (10.3%) were treated with fibrinolysis. CONCLUSIONS: Ischaemic stroke in young adults is not uncommon in Aragon, and is of undetermined aetiology in a considerable number of cases; it is therefore necessary to implement measures to improve study of the condition, to reduce its incidence, and to prevent its recurrence.

Epidemiology and characteristics of ischaemic stroke in young adults in Aragon. / Epidemiología y características del ictus isquémico en el adulto joven en Aragón.

INTRODUCTION: Stroke affects around 15 million people per year, with 10%-15% occurring in individuals under 50 years old (stroke in young adults). The prevalence of different vascular risk factors and healthcare strategies for stroke management vary worldwide, making the epidemiology and specific characteristics of stroke in each region an important area of research. This study aimed to determine the prevalence of different vascular risk factors and the aetiology and characteristics of ischaemic stroke in young adults in the autonomous community of Aragon, Spain. METHODS: A cross-sectional, multi-centre study was conducted by the neurology departments of all hospitals in the Aragonese Health Service. We identified all patients aged between 18 and 50 years who were admitted to any of these hospitals with a diagnosis of ischaemic stroke or TIA between January 2005 and December 2015. Data were collected on demographic variables, vascular risk factors, and type of stroke, among other variables. RESULTS: During the study period, 786 patients between 18 and 50 years old were admitted with a diagnosis of ischaemic stroke or TIA to any hospital of Aragon, at a mean annual rate of 12.3 per 100 000 population. The median age was 45 years (IQR: 40-48 years). The most prevalent vascular risk factor was tobacco use, in 404 patients (51.4%). The majority of strokes were of undetermined cause (36.2%), followed by other causes (26.5%). The median NIHSS score was 3.5 (IQR: 2.0-7.0). In total, 211 patients (26.8%) presented TIA. Fifty-nine per cent of the patients admitted with a diagnosis of ischaemic stroke (10.3%) were treated with fibrinolysis. CONCLUSIONS: Ischaemic stroke in young adults is not uncommon in Aragon, and is of undetermined aetiology in a considerable number of cases; it is therefore necessary to implement measures to improve study of the condition, to reduce its incidence, and to prevent its recurrence.

Stroke care programme in Aragon (PAIA): strategy and outcomes for the period 2009-2014. / Programa de Atención al Ictus en Aragón (PAIA). Estrategia del cambio y resultados en el periodo 2009-2014.

INTRODUCTION: In 2008, stroke mortality, morbidity, and disability rates in Aragon were higher than the average in Spain. These data underscored the need to develop a stroke care programme (PAIA). MATERIAL AND METHODS: We present the dynamics of planning, implementation, evaluation, and improvement developed between 2009 and 2014 as well as the results of the PAIA after that 5-year period. RESULTS: Structure, processes, and outcomes have improved with reference to the key indicators of healthcare (audit: 2008, 2010, 2012) among others: stroke rate in 2013 was 2.07 (2.36 in 2008); 78% of strokes were managed in stroke units in 2014 (30% in 2008); rate of fibrinolysis was 8.3% in 2014 (4.4% in 2010); fibrinolysis was administered in secondary hospitals (30% of the total); fibrinolysis was administered by Telestroke in 9%; stroke mortality decreased (38%); 67.7 years of potential life lost (YPLL) in 2013 (144 in 2008); nurse training; development of neurosonology; networking; sharing protocols and best practices between health sectors, etc. CONCLUSIONS: Integrated process management and multidisciplinary teams distributed and deployed over an entire territory with established protocols, references, evaluations, and continuous development, have been proven powerful tools to ensure both quality and equality. The PAIA is a good example of clinical governance and networking due to its dynamic and sustained improvement and cooperation between clinicians.

[Current status of congenital myasthenic syndromes]. / Estado actual de los sindromes miastenicos congenitos.

Since Engel reported the first case of congenital myasthenia in 1977 and the first pathogenic gene was found in 1995, knowledge about congenital myasthenic syndromes has continued to grow. Over the years, the pathogenic basis, its clinical features, the phenotype-genotype correlations that have been established and its therapeutic management have all been described. In this group of diseases the safety margin of neuromuscular transmission is altered by different mechanisms: in the synthesis or storage of acetylcholine quanta in the synaptic vesicles, in the calcium-mediated release of acetylcholine in the nerve terminal or in the efficiency of the quantum released to generate a post-synaptic depolarisation. Increased knowledge about them has enabled a number of different therapeutic strategies to be established. In this review the main updates on these syndromes are reported, including: the genes described as classifying 50% of cases, their current classification based on the localisation of the proteins that alter neuromuscular transmission, including a new group of congenital myasthenias, glycosylation disorders, the main key diagnoses and the therapeutic management of this group of under-diagnosed patients.

TITLE: Estado actual de los sindromes miastenicos congenitos.Desde la descripcion de Engel del primer caso de miastenia congenita en 1977 y el hallazgo en 1995 del primer gen patogeno, el conocimiento de los sindromes miastenicos congenitos se ha ido desarrollando, y se han descrito la base patogena, sus caracteristicas clinicas, las correlaciones fenotipo-genotipo establecidas y su abordaje terapeutico. En este grupo de enfermedades se altera el margen de seguridad de la transmision neuromuscular por distintos mecanismos: en la sintesis o almacenamiento de los quantum de acetilcolina en las vesiculas sinapticas, en la liberacion de acetilcolina en el nervio terminal mediada por calcio o en la eficiencia de la cuanta liberada para generar una despolarizacion postsinaptica. Su conocimiento ha permitido establecer distintas estrategias terapeuticas. En esta revision se describen las principales actualizaciones de estos sindromes: los genes descritos que clasifican un 50% de los casos, su clasificacion actual basandose en la localizacion de las proteinas que alteran la transmision neuromuscular, incluyendo un nuevo grupo de miastenias congenitas, los trastornos de la glicosilacion, las principales claves diagnosticas y el abordaje terapeutico de este grupo de pacientes infradiagnosticados.

Epidemiología y características del ictus isquémico en el adulto joven en Aragón / Epidemiology and characteristics of ischaemic stroke in young adults in Aragon

Introducción: Alrededor de 15 millones de personas sufren un ictus cada año, de los que un 10-15% ocurre en menores de 50 años (ictus en el adulto joven). La prevalencia de los distintos factores de riesgo vascular y las estrategias sanitarias para el manejo del ictus varían a nivel mundial, siendo interesante conocer la epidemiología y las características específicas de cada región. El objetivo de este estudio fue determinar la prevalencia de los diferentes factores de riesgo vascular, la etiología y las características de los ictus isquémicos en el adulto joven en la comunidad autónoma de Aragón. Métodos: Estudio multicéntrico, de corte transversal, realizado por los Servicios de Neurología de todos los hospitales del Servicio Aragonés de Salud (SALUD). Se identificó a todos los pacientes entre 18 y 50 años que ingresaron en cualquiera de estos hospitales con el diagnóstico de ictus isquémico o AIT entre enero del 2005 y diciembre del 2015. Se recogieron variables demográficas, factores de riesgo vascular y tipo de ictus isquémico entre otras. Resultados: En el periodo de estudio, 786 pacientes entre 18 y 50 años ingresaron con el diagnóstico de ictus isquémico o AIT en algún hospital del SALUD, con una tasa anual promedio de 12,3 por 100.000 habitantes. La mediana de su edad fue de 45 años (RIQ: 40-48 años). El factor de riesgo vascular más prevalente fue el tabaquismo, 404 (51,4%). La mayoría fue de causa indeterminada (36,2%), seguida por «otras causas» (26,5%). La mediana de puntuación en la escala NIHSS fue de 3,5 (RIQ: 2,07,0). En total, 211 (26,8%) de los ingresos fueron por AIT. De los pacientes que ingresaron con el diagnóstico de ictus isquémico, 59 (10,3%) se fibrinolizaron. Conclusiones: El ictus isquémico en el adulto joven no es infrecuente en Aragón y en un importante número de casos es de etiología indeterminada, por lo que es necesario implementar medidas que nos permitan mejorar su estudio, disminuir su incidencia y prevenir su recurrencia. (AU)

Introduction: Stroke affects around 15 million people per year, with 10%-15% occurring in individuals under 50 years old (stroke in young adults). The prevalence of different vascular risk factors and healthcare strategies for stroke management vary worldwide, making the epidemiology and specific characteristics of stroke in each region an important area of research. This study aimed to determine the prevalence of different vascular risk factors and the aetiology and characteristics of ischaemic stroke in young adults in the autonomous community of Aragon, Spain. Methods: A cross-sectional, multi-centre study was conducted by the neurology departments of all hospitals in the Aragonese Health Service. We identified all patients aged between 18 and 50 years who were admitted to any of these hospitals with a diagnosis of ischaemic stroke or TIA between January 2005 and December 2015. Data were collected on demographic variables, vascular risk factors, and type of stroke, among other variables. Results: During the study period, 786 patients between 18 and 50 years old were admitted with a diagnosis of ischaemic stroke or TIA to any hospital of Aragon, at a mean annual rate of 12.3 per 100 000 population. The median age was 45 years (IQR: 40-48 years). The most prevalent vascular risk factor was tobacco use, in 404 patients (51.4%). The majority of strokes were of undetermined cause (36.2%), followed by other causes (26.5%). The median NIHSS score was 3.5 (IQR: 2.0-7.0). In total, 211 patients (26.8%) presented TIA. Fifty-nine per cent of the patients admitted with a diagnosis of ischaemic stroke (10.3%) were treated with fibrinolysis. Conclusions: Ischaemic stroke in young adults is not uncommon in Aragon, and is of undetermined aetiology in a considerable number of cases; it is therefore necessary to implement measures to improve study of the condition, to reduce its incidence, and to prevent its recurrence. (AU)

[Periodic movements of the limbs during sleep in childhood]. / Movimientos periódicos de las extremidades durante el sueño en la infancia.

INTRODUCTION: Periodic movements of the limbs (PML) whilst sleeping is a disorder included in the group of intrinsic dysomnias which cause problems of insomnia and somnolence during the day. It is usually associated with the restless legs syndrome (it occurs in 80% of the patients with this syndrome) although PML may occasionally be an isolated finding. The prevalence of the disease is of 11%. It usually occurs in patients aged over 50 years, and the frequency increase with age. It is uncommon in persons aged under 30 years. In children it is almost unknown. When it does occur in this age group it is usually associated with the restless legs syndrome. OBJECTIVE: To obtain data regarding this disorder in childhood, in view of the scarcity of information available in the literature and the importance of the neuropsychological problems and difficulty with learning that affected children have. CLINICAL CASES: We report two cases of PML occurring in girls of under 7 years of age. They had severe associated neuropsychological disorders (disorders of behavior and feeding, psychotic episodes, etc.). The effect on performance at school led to complete failure in one case. We describe the clinical course of the two girls, emphasizing the variability, and both diagnostic and therapeutic difficulties. CONCLUSIONS: Although this condition is uncommon in childhood, it should always be borne in mind in cases of children with sleep disorders, since early diagnosis will prevent major behavior and learning problems.

[Leukocytes and primary intracerebral hemorrhage]. / Leucocitos y hemorragia intracerebral primaria.

INTRODUCTION AND OBJECTIVE: The association between the leucocyte count and prognosis observed in ischemic cerebrovascular disease and subarachnoid hemorrhage has rarely been reported in primary intracerebral hemorrhage. The objective of our study is to assess the importance of the number of leukocytes in the peripheral blood during the first 24 hours for prognosis of mortality. PATIENTS AND METHODS: We made a prospective analysis of supratentorial primary intracerebral hemorrhages seen during the first 24 hours during the period 1987-1994. We evaluated the relationship between age, sex, size of hematoma, blood found in the ventricles, level of consciousness on admission, survival and prognosis after 30 days, level of glucaemia, arterial hypertension and leucocyte count. RESULTS: We considered 186 primary intracerebral hemorrhages (64% men and 36% women); the average age was 64 years (Standard Deviation: 10 years). There were 63% deep and 37% lobar hemorrhages. Thirty five percent of the patients died. Leucocytosis was associated with survival (p = 0.003), prognosis (p = 0.0005) and intraventricular bleeding (p = 0.03). We found a significant relationship between the size of the hematoma (r = 0.256; df = 186; p < 0.0001), level of glycaemia on admission (r = 0.282; df = 186; p < 0.0001), level of consciousness (r = -0.263; df = 186, p < 0.0001) and leukocyte count. CONCLUSIONS: The peripheral blood leucocyte count was significantly associated with prognosis and increased mortality. It may therefore be considered to be another parameter of bad prognosis in primary intracerebral hemorrhage.

[Basilar artery rostral occlusion syndrome. Clinico-radiological assessment of 56 patients]. / Síndrome por oclusión rostral de la arteria basilar. Valoración clinicorradiológica de 56 pacientes.

We studied 56 patients, 30 women and 26 men ranging from 30 to 79 years of age (average age 64.5 +/- 10.4), who were admitted to our hospital between 1982 and August 1995 with clinical features compatible with occlusion at the level of the bifurcation of the basilar artery. The patients were selected following clinical and neuro-radiological criteria. All patients included in the study had two or more recent infarcts in the vertebro-basilar territory, related to involvement of the rostral region of the basilar artery. The diagnosis was confirmed by CT or MR scanning. The infarcts were in the thalamus, brain-stem, cerebellum and parieto-occipital lobe. A thalamic infarct associated with an infarct in another region was the most frequent lesion. The CT-MR findings in the 56 cases were: 29 patients presented with a unilateral thalamic infarct associated with another infarct (23 occipital, 8 parietal, 6 brain-stem and 2 cerebellum). There were eight patients with bilateral thalamic infarcts and seven with bilateral occipital infarcts. In six patients the occipital infarct was associated with another infarct at a different level (parietal or cerebellar) and six patients had cerebellar infarcts together with an infarct of the mid-brain. In 22 of the patients, lesions were found in three or more areas. The commonest clinical findings were: Motor deficit (69.6%), abnormal eye movements (44.5%), cerebellar dysfunction (42.8%), altered level of consciousness (32.1%), visual field defects (28.5%), pupil anomalies (19.6%). The most frequently associated risk factors were: Arterial hypertension (58.9%), a history of ACV (32.1%) and atrial fibrillation (21.4%). Mortality was 5.7%. In contrast to the classical descriptions, motor defecit was the commonest symptom in our series.

Programa de Atención al Ictus en Aragón (PAIA). Estrategia del cambio y resultados en el periodo 2009-2014 / Stroke care programme in Aragon (PAIA): strategy and outcomes for the period 2009-2014

INTRODUCCIÓN: En 2008, Aragón tenía tasas de morbimortalidad y discapacidad por ictus superiores a las del conjunto de España. Se estableció la necesidad de desarrollar un Programa de Atención al Ictus (PAIA). MATERIAL Y MÉTODOS: Damos a conocer la dinámica de planificación, implantación, evaluación y mejora que se ha desarrollado entre los años 2009-2014 y sus resultados a 5 años. RESULTADOS: Se ha mejorado en la estructura, en los procesos y en los resultados, con mejoría en los indicadores clave de la asistencia (audit 2008-2010-2012) y otros: tasa ictus 2013: 2,07 (2008: 2,36); 78% ictus atendidos en áreas/unidades en 2014 (30%, 2008); tasa fibrinólisis 8,3% en 2014 (4,4%, 2010); fibrinólisis hospitales secundarios (30% total); fibrinólisis con teleictus 9%; descenso de la mortalidad por ictus, 38%; años de vida prematura perdidos 67,7 (2013)/144 (2008); capacitación de enfermería, desarrollo de la neurosonología, trabajo en red, con protocolos y buenas prácticas compartidos entre sectores sanitarios, etc. CONCLUSIONES: La gestión por procesos y equipos multidisciplinares desplegados en una distribución territorial integral, con protocolos y referencias establecidas y una dinámica de evaluación y mejora continua, ha demostrado ser una herramienta potente para garantizar la calidad y la equidad. El PAIA, por su dinámica de mejora sostenida y la implicación de los clínicos, es un buen ejemplo de gestión clínica y trabajo en red

INTRODUCTION: In 2008, stroke mortality, morbidity, and disability rates in Aragon were higher than the average in Spain. These data underscored the need to develop a stroke care programme (PAIA). MATERIAL AND METHODS: We present the dynamics of planning, implementation, evaluation, and improvement developed between 2009 and 2014 as well as the results of the PAIA after that 5-year period. RESULTS: Structure, processes, and outcomes have improved with reference to the key indicators of healthcare (audit: 2008, 2010, 2012) among others: stroke rate in 2013 was 2.07 (2.36 in 2008); 78% of strokes were managed in stroke units in 2014 (30% in 2008); rate of fibrinolysis was 8.3% in 2014 (4.4% in 2010); fibrinolysis was administered in secondary hospitals (30% of the total); fibrinolysis was administered by Telestroke in 9%; stroke mortality decreased (38%); 67.7 years of potential life lost (YPLL) in 2013 (144 in 2008); nurse training; development of neurosonology; networking; sharing protocols and best practices between health sectors, etc. CONCLUSIONS: Integrated process management and multidisciplinary teams distributed and deployed over an entire territory with established protocols, references, evaluations, and continuous development, have been proven powerful tools to ensure both quality and equality. The PAIA is a good example of clinical governance and networking due to its dynamic and sustained improvement and cooperation between clinicians

Congenital endplate acetylcholinesterase deficiency responsive to ephedrine.

The authors describe two patients with congenital myasthenic syndrome (CMS) with end plate acetylcholinesterase (AChE) deficiency caused by mutations in the collagenic tail (ColQ) of AChE: a homozygous C-terminal Y230S mutation in Patient 1 and Y430S and a C-terminal splice-site mutation in Patient 2. In Patient 1, a Prostigmin (neostigmine bromide) test failed to distinguish between AChE deficiency and a slow-channel CMS. Both patients responded dramatically to ephedrine therapy.

[Pineal gland cysts: clinical and radiological course]. / Quistes de glándula pineal: evolución clínica y radiológica.

We describe the clinical and radiologic evolution of pineal gland cysts found in computed tomography or magnetic resonance images in 12 patients. The patients had complained of headache and/or lateralized sensory symptoms. None had signs of intracranial hypertension or tectal dysfunction. Only one patient, who had partial epilepsy and a large cyst, was treated by ventriculo-cystic shunt; the rest were treated conservatively. The follow-up period in 11 patients was from 2 to 5 years. No changes were observed in cyst size or radiological characteristics; nor did signs of tectal dysfunction develop. In patients with no signs or symptoms directly attributable to these cysts, surgery can be avoided if no radiological changes are found upon follow-up.

[Neurobrucellosis. A report of 13 cases]. / Neurobrucelosis. Aportación de 13 casos.

Thirteen patients with nervous system brucellosis are described. The clinical signs were heterogeneous: meningoencephalitis in 5 cases, meningoradiculitis in another 5, meningomyelitis with cranial neuropathy in 1 and of a vascular nature in 2 others. Neurologic signs appeared during the active phase in 5 patients and later in 8. Diagnosis was based on clinical manifestations, serum and cerebrospinal fluid (CSF) serology, quantitative changes in CSF and favorable response to treatment. Therapy consisted of a combination of 2 or 3 of the following drugs: rifampin, doxycycline, streptomycin and trimethoprim sulfamethoxazole. In spite of favorable evolution, 5 patients suffered sequelae. We suggest that brucellosis be investigated when neurologic deficit ensues with no known etiology, especially in endemic countries.

Movimientos periódicos de las extremidades durante el sueño en la infancia / Periodic movements of the limbs during sleep in childhood

Introducción. Los movimientos periódicos de las extremidades (MPE) durante el sueño constituyen un trastorno incluido dentro de las disomnias intrínsecas, que provoca problemas de insomnio y somnolencia diurna. Suele asociarse al síndrome de las piernas inquietas (ya que aparece en un 80 por ciento de los pacientes con este síndrome), aunque en ocasiones los MPE se manifiestan de forma aislada. La prevalencia de la enfermedad es de un 11 por ciento. Habitualmente se presenta en mayores de 50 años, aumentando su prevalencia con la edad. Su presentación en menores de 30 años es infrecuente, siendo las descripciones en niños casi inexistentes y habitualmente asociadas al síndrome de piernas inquietas. Objetivo. Aportar datos sobre esta entidad en la infancia, dada la escasez de datos publicados sobre esta patología en edades tempranas, y la trascendencia de los problemas neuropsicológicos y del aprendizaje que provoca esta entidad en los niños afectos. Casos clínicos. Presentamos dos casos de MPE de aparición en niñas menores de 7 años, y mostramos los graves trastornos neuropsicológicos asociados (trastornos de conducta, alimentación, episodios psicóticos, etc.), y la influencia sobre el rendimiento escolar, que llegó a provocar fracaso del mismo en una de las pacientes. Se detalla la evolución de ambas niñas, y se hace hincapié en su variabilidad, la dificultad diagnóstica y terapéutica. Conclusiones. A pesar de su infrecuencia en la infancia, esta entidad debe estar siempre presente ante todo niño con trastornos del sueño, ya que su diagnóstico temprano evita importantes problemas de conducta y de aprendizaje (AU)