E. Moreno Medinilla

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.

Hiperinsuflación lobar congénita: manejo conservador como alternativa terapéutica

Congenital lobar emphysema used to be treated surgically. Congenital lobar hyperinflation is the currently recommended term, as it involves pathologically healthy lung tissue, which is why conservative management may be an option. Four cases of diagnosed congenital lobar hyperinflation are presented in which conservative treatment was chosen due to their clinical stability. Their outcome has been satisfactory with progressively normal radiology.

1031 Aminoacidopathies: Review and Data of 12 Years Experience from a Spanish Tertiary Care Center

Background/Aims Range and severity of symptoms hugely variable in aminoacidopathies, mainly diagnosed during acute episodes. Tandem Mass spectrometry (Ms/Ms) used in our unit since 2010 for diagnosing asymptomatic infants (very important for prognosis). Methods Retrospective, descriptive study in which field data were collected from clinical histories of patients diagnosed of aminoacidopathies (excluding phenylcetonuria) since 2000 till 2012. Results 30 children detected. 22/30 male; 24/30 caucasians. 10/30 diagnosed by newborn screening, all of them asymptomatic: 1 methylmalonic acidemia (MMA), 3 glutaric aciduria type 1, 2 homocystinuria, 2 methylcrotonylglycinuria, 1 hipermetioninemia and 1 maple syrup urine disease. 20/30 diagnosed because of clinical symptoms, 2/20 since MS/MS newborn screening was performed. Mean age of clinical debut in intoxication type aminoacidopathies was 64.5 days (median 8 days). Most frequent symptoms were clouding of consciousness (9/20), convulsions (2/20) and apnoea (2/20). Laboratory results showed metabolic acidosis (6/20), hyperammonemia (8/20), coagulation defects (4/20) and hipoglycemia. Main complications were: shock (9/20), multiple organ failure (5/20), coagulopathy (4/20), brain injury (1/20), liver failure (1/20) and seizures (2/20). The final diagnosis was: 5 OTC-defficiency, 2 citrullinemia, 3 methylmalonic acidemia, 1 3-OH-metilglutaric aciduria, 1 glutaric aciduria type 1, 1 metilglutaconic acidemia, 1 trimethylaminuria, 1 propionic acidemia, 2 tyrosinemia and 3 homocystinuria. Ventilatory support needed in 13/20, vasoactive agents 11/20, peritoneal dialysis 8/20, continuous veno-venous haemofiltration 4/20. 8 patients died; among survivors, 2/12 madurative failure, 3/12 serious neurological sequelae, 1/12 liver failure, needing transplantation. Conclusions Aminoacidopathies diagnosed by Ms/Ms start early with treatment. Wide range of presentation symptoms and findings.