A. Madrid Rodríguez

Atrofia muscular espinal: revisión de nuestra casuística en los últimos 25 años

OBJECTIVES To determine the incidence of spinal muscular atrophy (SMA) in our study population and genetic distribution and epidemiological and clinical characteristics and to analyze the level of care and development. MATERIAL AND METHOD Retrospective descriptive study of patients treated in our hospital in the past 25 years (from 1987 to early 2013), with a clinical and neurophysiological diagnosis of SMA. RESULTS A total of 37 patients were found, representing an incidence for our reference population and year of 1 case per 10,000 live births. Males predominated (male/female ratio: 1.6/1). The type of SMA diagnosed more frequently was, type i (26 cases), followed by type ii (9 cases), one case with SMA type iii, and one case of spinal muscular atrophy with respiratory distress type 1 (SMARD1). The most frequent genetic alteration was homozygous deletion of exons 7 and 8 of SMN1 gene in 31 cases, while five patients had atypical genetics. The median survival for type i was 8.0 months and 15.8 years for type ii. CONCLUSIONS The incidence in our population remains stable at around 1/10.000. Most cases presented with, predominantly male, typical genetics. In approximately 1/10 patients the genetic alteration was different from the classical one to the SMN gene. The prevalence of AME unrelated SMN gene was 1/37. The level of care has increased in line with social and welfare demands in recent years.

Encefalomielitis aguda diseminada: análisis epidemiológico, clínico, analítico y evolutivo en 16 pacientes

INTRODUCTION Acute disseminated encephalomyelitis (ADEM) is a rare paediatric disease of autoimmune origin. The aim of this study is to estimate its impact in our area over the past 10 years and to analyse the clinical, laboratory and radiological presentation, as well as study the response to treatment and outcome. PATIENTS AND METHODS A retrospective analysis of cases diagnosed with current ADEM criteria. The age and month of the year at onset, sex, family history of demyelination, initial symptoms, disease or previous vaccination, CSF features, serology, PCR for herpes virus group in blood and CSF, oligoclonal bands in CSF, EEG and neuroimaging features of the skull by MRI, the type of treatment received and the response were recorded on each of the patients diagnosed. RESULTS There were 16 patients, with a mean age of 5.6 years. Male/female: 11/5, with a dominant debut in the colder months of the year, predominantly gait disorder, changes in consciousness and seizures. The radiology by MRI showed a predominance of multiple lesions in the same T2 stage, in deep white matter and lesions in deep grey matter. There were no in blood parameters and the CSF was normal in half of the cases. The origin was determined in 7 cases. CONCLUSIONS The annual incidence in children under 14 years was estimated at 0.64/100,000. The clinical and radiological findings were the basis of diagnosis. The human herpes virus 6 was involved in 4 cases. Most patients recovered completely.

P116 – 2582: Palliative care and paediatric neurology

Objective The high frequency of neurological processes of uncertain or incurable prognosis demands an active and global attention of the patient and his family aiming to improve the attention and the quality of life of these patients. The palliative care have to be integrated into the neurology practice. We analyzed the characteristics of pediatric neurological patients admitted to the Pediatric Home Health Care Unit of a major hospital with neurological diseases including epidemiological, diagnostic, developmental and survival data. Methods A retrospective, descriptive study of patients admitted to Home Health Care with neurological diseases for palliative care for 5 years. Results During past 5 years 52 patients were admitted with neurological disorders (10.5% of total). The mean age on admittance was 34.5 months (range 0 to 152 months). The male/female ratio was 24/28. The most frequent disorders were: 10 severe cerebral palsy with difficult to control symptoms, 8 brain tumors, 5 metabolic disorders, 6 central nervous system malformations, 4 hypoxic ischemic encephalopathies, 4 patients with sequels of extremely premature birth, 3 spinal muscular atrophies and 2 chromosomal abnormalities. Provenance was mostly hospital wards (54%), and oncology (15%) and neurology (12%) consultations. In addition to general palliative care, 41 patients required enteral nutrition, 26 requiered oxygen and 7 NIV in their homes. During follow-up, there was at least one hospital admission in 18 patients. The mean stay in the unit was 8.6 months. Of the patients admitted, 13 died, five of them at home. Conclusion Diverse neurological diseases are characterized by a lack of response to the treatment, a progressive evolution of the disease, and in certain cases, a fatal prognosis in a relatively short term. We propose, in these patients, comprehensive care at home to prevent unnecessary hospital admissions, and when the time comes help them at the end of their days

PP07.4 – 2585: Epileptic status in pediatrics. Our experience

Objective Status epilepticus (SE) is the most common neurological emergency on pediatric. Given the possibility of neurological sequelae and mortality associated, It requires an early aggressive treatment. Methods Retrospective descriptive study based on the review of medical histories of patients admitted to our hospital from 2010 to 2013 with a diagnosis of SE. The objective was to describe the epidemiology characteristics and the management of these patients, and to review the available literature on this topic. Results We collected 39 patients (25 males) and 51 episodes of SE. Average age: 4.8 years. 22/39 had an underlying disease. 18/39 were known epileptic and 5/27 had a previous EE. With a total of 51 SE: 33/51 were symptomatic, 15/51 were febrile and 3/51 were cryptogenic. Types of status: 25/51 were partial (16/25 complex) and 26/51 were generalized. Treatment: 47/51 benzodiazepines as treatment of choice (40 diazepam), 3/51 phenytoin and 1/51 valproic acid. 27/51 required second-line drugs: 16 valproic, 8 phenytoin, 2 phenobarbital and 1 levetiracetam. 10/51 required third-line drugs for the induction of barbiturate-induced coma: Midazolam was the most used in our center, followed by thiopental and propofol. Two super-refractory status required immunoglobulins and systemic corticosteroids for appearing on the course of autoimmune encephalitis. Conclusion The therapeutic scheme of SE should be considered since the start of any seizure. The treatment is staggered with BZD in the first stage, broad spectrum antiepileptic drugs, and intravenous availability in the second (VPA, LEV in the generalized EE and PHT in the focal), while the third level varies depending on the experience of each team

PP09.2 – 2584: Spinal muscular atrophy: Review of clinical characteristics and treatment in the last 25 years

Objective Spinal muscular atrophy (SMA) include a group of disorders that produce disabilities in all patients. Our aim is to review the epidemiological and clinical characteristics, genetic distribution and to analyze the care and development of the SMA in our area. Methods Retrospective descriptive study of patients diagnosed in our hospital during the past 25 years (1987–2013), with clinical and neurophysiological diagnosis of SMA. Results 37 patients were found, representing an incidence of 1 case per 10,000 live births in our reference population. The male/female ratio was 1.6/1. The type of SMA diagnosed more frequently was type I (26 cases), followed by type II with 9 cases, 1 case of SMA type III, and 1 case of SMA with respiratory distress (SMARD1). The most frequent genetic alteration was homozygous deletion of exons 7 and 8 of the SMN1 gene (31 cases). 25 patients were followed in our centre, 7 by the Pediatric Home Hospitalisation Unit. Most of them received motor rehabilitation (15), breathing physiotherapy in 8 cases or basic respiratory care in 5. 2 cases received oxygen by low-flow nasal cannula, non-invasive ventilation in 1 case and invasive ventilation with tracheostomy in 2 cases. In 4 cases a nasogastric tube and in 1 case a gastrostomy was prescribed. The median survival for type I was 8.0 months and 15.8 years for type II. Conclusion The incidence in our population remains stable at around 1/10.000. Most cases presented a typical genetic alteration and were predominantly male. In approximately 1/10 patients the genetic alteration was different from the classical to the SMN gene. The caring level has increased in line with social and welfare demands in recent years. We improve our work with consensus statement for standard of care in spinal muscular atrophy.

Tratamiento antimicrobiano parenteral domiciliario: análisis prospectivo de los últimos 12 años

OBJETIVES Parenteral antibiotic treatment has been classically developed in hospitals and is considered as a hospital procedure. The development of Hospital at Home Units (HHU) has led to an increase in outpatient parenteral antibiotic therapy (OPAT) in paediatrics patients. The objective of this study is to describe our experience, as an HHU integrated within a Paediatric Department, in home antimicrobial therapy over a period of 12 years. PATIENTS AND METHODS This prospective and descriptive study included every patient with a disease requiring parenteral antimicrobial therapy who was admitted to our HHU from January 2000 to December 2012. RESULTS During the study there were 163 cases on OPAT. The mean age of the patients was 11.1 years, and the sample group was comprised of 33 males and 22 feamales. The main sources of the treated infections were respiratory tract (76%), catheter-related bloodstream (9.2%), and urinary tract infections (5.5%). Amikacin was the most widely used antibiotic. Almost all treatments (96.6%) were via an intravenous route. Catheter-associated complications were more common than drug-associated complications. Successful at-home treatment was observed in 90.2% of cases. CONCLUSIONS OPAT is a good and safe alternative in many paediatric diseases.

Es la actitud expectante en el síndrome de Gorham una opción terapéutica

El síndrome de Gorham-Stout (SGS), también conocido como osteólisis masiva idiopática o enfermedad del hueso fantasma, es una rara enfermedad cuya etiopatogenia no es bien conocida. Se caracteriza por un proceso osteolítico asociado a una proliferación de estructuras vasculares o linfáticas de etiología benigna. Desde que en 1955 Gorham y Stout definieron esta entidad, han sido publicados 170 casos en el mundo, 50 de estos en la población pediátrica. El diagnóstico es frecuentemente difícil por tratarse de una enfermedad extremadamente rara y por la normalidad de las pruebas analíticas; solo las pruebas radiológicas e histológicas serán de ayuda para un diagnóstico precoz que siempre deberá ser de exclusión. Presentamos el caso de un varón de 6 años, con clínica consistente en una tumoración indolora en la región cervical posterior izquierda, de 3 meses de evolución, de crecimiento lentamente progresivo. En los últimos días, presenta un aumento del tamaño de la misma, acompañándose de fiebre, dolor y dificultad para la movilización cervical. En la exploración, se aprecia dicha tumoración cervical de 7 × 6 cm de diámetro, de consistencia elástica a la palpación, con leve aumento de temperatura local, que sobrepasa la línea media posterior y se limita anteriormente con el músculo esternocleidomastoideo. Se realiza una tomografía computarizada cervical (fig. 1), donde se observa una lesión quística de contenido heterogéneo con septos en su interior, con paredes bien definidas y sin vascularización interna ni periférica, que indica el diagnóstico de linfangioma sobreinfectado. Así mismo se evidencia afectación ósea adyacente en los arcos posteriores de C2 y C3. La resonancia magnética (fig. 2) permite la visualización de la extensión de la masa hasta espacio epidural, con desplazamiento de la médula espinal. Para su estudio etiológico, se realiza la punción aspiración de la tumoración, evidenciándose contenido lechoso purulento, presentando un crecimiento positivo cultivo a Staphylococcus aureus compatible con material linfático sobreinfectado. El estudio histopatológico de la muestra evidenció tejido necróticohemorrágico sin presencia de atipias. Se realizó un drenaje quirúrgico de la lesión y se inició antibioterapia empírica por vía intravenosa con evolución favorable. Se consensúa de forma multidisciplinar una actitud expectante, observándose a los 6 meses una disminución considerable de la tumoración cervical y estabilidad de lesiones óseas que ha determinado una actitud conservadora. La evolución de las lesiones óseas será el condicionante que nos hará plantearnos tratamientos ulteriores. Más del 75% de pacientes con linfangiomatosis tienen afectación ósea, por lo que es considerada por muchos autores una variante del SGS. Puede afectar a cualquier hueso, pero los más frecuentes son los huesos largos, cráneo, pelvis y hombro, no existiendo una predilección clara de sexo. El tejido neovascular presenta una proliferación agresiva que parece ser el agente causante de la pérdida ósea que se produce en estos pacientes. Se ha observado un aumento de vascular endothelial grown factor que podría estar relacionado con su etiopatogenia, desarrollándose tratamientos que tratan de inhibir este. Histológicamente, a nivel óseo se observa una proliferación de vasos no neoplásica, generalmente sanguíneos, aunque también linfáticos, de paredes finas, que sustituye la médula ósea. Con respecto al tratamiento, no existe consenso establecido pero la cirugía es considerada de elección cuando esta sea posible. Para el tratamiento de las lesiones óseas se pueden emplear bifosfonatos e interferón alfa 2b. La acción sinérgica del ácido zoledrónico y el interferón es un tratamiento antiangiogénico potente, que actualmente está ofreciendo los mejores resultados. Adicionalmente al tratamiento, es prioritario un seguimiento de las lesiones óseas para valorar la necesidad de una actitud neuroquirúrgica en caso de pérdida de estabilidad o progresión. La radioterapia actúa acelerando la esclerosis de los vasos y evita su regeneración, pero tiene importantes efectos adversos que la hacen no ser primera línea de tratamiento. Algunos autores, dado que la enfermedad tiende a estabilizarse con el tiempo en muchos de los casos, consideran la actitud expectante el tratamiento de elección, siempre que la localización y la estabilidad de las lesiones lo permitan; esto fue lo realizado en nuestro caso con buenos resultados.