J. Martínez Antón

Crisis convulsivas asociadas a gastroenteritis: estudio de incidencia y análisis clínico

INTRODUCTION Benign convulsions associated with gastroenteritis are now increasingly recognized as clinical condition to the extent that it has become an independent entity under the heading of non-epileptic situational seizures. The aim of this study is to determine the annual incidence in the reference population of our hospital and the clinical characterization of seizures associated to gastroenteritis, in the absence or presence of fever for comparison. PATIENTS AND METHOD All seizures associated with gastroenteritis treated in our hospital were prospectively collected over a period of two calendar years. The children included were aged 6 months to 6 years with seizures in the context of gastroenteritis without electrolyte abnormalities, and divided into two groups, with and without fever. RESULTS There were 14 cases from a reference population of 39,900 with a homogeneous semiological presentation. CONCLUSION The annual incidence was estimated at 1/10 000 children for afebrile seizures associated with gastroenteritis. The clinical behaviour and the incidence of seizures associated with fever and gastroenteritis was similar, but with an appearance somewhat earlier from the onset of symptoms, and at a slightly higher age.

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.

Crisis febriles complejas: estudio de la patología asociada y utilidad de las pruebas complementarias

INTRODUCTION Although one third of febrile seizures are complex, a consensus has still not been reached on how to manage them, as is the case with simple febrile seizures. The objective of this study is to estimate the usefulness of complementary examinations and the risk of associated serious intracranial pathology. PATIENTS AND METHODS A retrospective review was conducted from 2003 until 2011 on patients from 6 months to 6 years presenting with a complex febrile seizure admitted to a tertiary care hospital, excluding the cases with previous neurological disease. Epidemiological and clinic variables were collected, as well as complementary tests and complications. RESULTS We found 65 patients (31 females and 34 males), of whom 44 had repeated seizures in the first 24 hours, with 15 having focal seizures. The vast majority (90%) of the recurrences occurred before 15 hours. The mean age was 20.7 months and temperature was 39.1 ± 0.12°C. None of the patients had severe intracranial pathology. The electroencephalogram gave no helpful information for the diagnosis. Neuroimaging was normal in all studied cases. CONCLUSIONS The incidence of complications in complex febrile seizure in our series did not justify the systematic admission or the systematic study with complementary tests when the neurological examination was normal. The routine electroencephalogram does not appear to be justified.INTRODUCTION Although one third of febrile seizures are complex, a consensus has still not been reached on how to manage them, as is the case with simple febrile seizures. The objective of this study is to estimate the usefulness of complementary examinations and the risk of associated serious intracranial pathology. PATIENTS AND METHODS A retrospective review was conducted from 2003 until 2011 on patients from 6 months to 6 years presenting with a complex febrile seizure admitted to a tertiary care hospital, excluding the cases with previous neurological disease. Epidemiological and clinic variables were collected, as well as complementary tests and complications. RESULTS We found 65 patients (31 females and 34 males), of whom 44 had repeated seizures in the first 24 hours, with 15 having focal seizures. The vast majority (90%) of the recurrences occurred before 15 hours. The mean age was 20.7 months and temperature was 39.1 ± 0.12°C. None of the patients had severe intracranial pathology. The electroencephalogram gave no helpful information for the diagnosis. Neuroimaging was normal in all studied cases. CONCLUSIONS The incidence of complications in complex febrile seizure in our series did not justify the systematic admission or the systematic study with complementary tests when the neurological examination was normal. The routine electroencephalogram does not appear to be justified.

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.