Stingray spear injury to the pediatric spinal cord: case report and review of the literature.

Stingray injuries are rare, mostly causing injuries to the lower extremities but occasionally fatal if there is direct puncture of the thorax, abdomen, or neck. Direct combined stingray injury to the central nervous system has not been reported in the literature. Herein we present the case of a 12-year-old boy who, while wading at the seashore of the Costa Rica's Pacific Ocean, sustained a combined oblique penetrating injury to the C6 vertebra caused by a Stingray. He initially presented to the hospital with a complete asymmetric right C6/left T1 ASIA A examination, priapism, and loss of anal sphincter tone. Imaging revealed fracture of the posterior elements of C6 with an oblique trajectory into the left radicular foramen. T2W images did not reveal anatomical section but rather edema and minor bleeding in the epidural space. The patient underwent medical management and serial imaging. During the next 3 months, there was recovery of sensation on the right hemi body, bilateral paresthesias and asymmetric progressive improvement in strength on both legs. Acute care management and midterm term follow up are provided, along with a review of the literature for salient management considerations when evaluating and treating combined penetrating and envenomation injuries caused by stingrays. To our knowledge, this is the first report of such injury to the spine.

Correction to: Stingray spear injury to the pediatric spinal cord: case report and review of the literature.

The original version of this article unfortunately contained an error in the spelling of the last name of one of the co-authors. The corresponding author did not notice that the last name of one of the co-authors, Nathan Shlobin, was misspelled as "Schlobin". The correct spelling of his last name is "Shlobin". Given in this article is the corrected author name.

Molecular aggregation of naphthalimide organic semiconductors assisted by amphiphilic and lipophilic interactions: a joint theoretical and experimental study.

Amphiphilic and lipophilic donor-acceptor naphthalimide-oligothiophene assemblies exhibiting almost identical intramolecular properties, but differing in their intermolecular interactions, have been synthesized. Here we analyze the effect of replacing the normally used lipophilic alkyl chains with hydrophilic ones in directing molecular aggregation from an antiparallel to a parallel stacking. This different molecular packing of the amphiphilic, NIP-3TAmphi, and lipophilic, NIP-3TLipo, systems is assessed by electronic spectroscopies, scanning electronic microscopy and DFT quantum-chemical calculations. Theoretical calculations indicate that the presence of amphiphilic interactions promotes a face-to-face parallel arrangement of neighbor molecules, which induces improved electronic coupling and therefore enhances the charge transport ability and photoconducting properties of this type of materials. Time of flight and photoconducting measurements are used to determine the impact of the amphiphilic and lipophilic interactions on their possible performance in optoelectronic devices.

Descriptive study of symptomatic epilepsy by age of onset in patients with a 3-year follow-up at the Neuropaediatric Department of a reference centre. / Estudio descriptivo de las epilepsias sintomáticas según edad de inicio controladas durante 3 años en una Unidad de Neuropediatría de referencia regional.

OBJECTIVE: We conducted a descriptive study of symptomatic epilepsy by age at onset in a cohort of patients who were followed up at a neuropaediatric department of a reference hospital over a 3-year period PATIENTS AND METHODS: We included all children with epilepsy who were followed up from January 1, 2008 to December 31, 2010 RESULTS: Of the 4595 children seen during the study period, 605 (13.17%) were diagnosed with epilepsy; 277 (45.79%) of these had symptomatic epilepsy. Symptomatic epilepsy accounted for 67.72% and 61.39% of all epilepsies starting before one year of age, or between the ages of one and 3, respectively. The aetiologies of symptomatic epilepsy in our sample were: prenatal encephalopathies (24.46% of all epileptic patients), perinatal encephalopathies (9.26%), post-natal encephalopathies (3.14%), metabolic and degenerative encephalopathies (1.98%), mesial temporal sclerosis (1.32%), neurocutaneous syndromes (2.64%), vascular malformations (0.17%), cavernomas (0.17%), and intracranial tumours (2.48%). In some aetiologies, seizures begin before the age of one; these include Down syndrome, genetic lissencephaly, congenital cytomegalovirus infection, hypoxic-ischaemic encephalopathy, metabolic encephalopathies, and tuberous sclerosis. CONCLUSIONS: The lack of a universally accepted classification of epileptic syndromes makes it difficult to compare series from different studies. We suggest that all epilepsies are symptomatic because they have a cause, whether genetic or acquired. The age of onset may point to specific aetiologies. Classifying epilepsy by aetiology might be a useful approach. We could establish 2 groups: a large group including epileptic syndromes with known aetiologies or associated with genetic syndromes which are very likely to cause epilepsy, and another group including epileptic syndromes with no known cause. Thanks to the advances in neuroimaging and genetics, the latter group is expected to become increasingly smaller.

[Changes in the demand for paediatric neurology care in a spanish tertiary care hospital over a 20-year period]. / Evolución de la demanda asistencial neuropediátrica en un hospital español de tercer nivel a lo largo de 20 años.

OBJECTIVE: The purpose of this study is to determine the profile of the demand for paediatric neurology care in a Spanish tertiary hospital over the past 20 years. METHOD: We studied epidemiological data, reasons for consultation, diagnoses and complementary tests from all patients examined by our Paediatric Neurology Unit in its 20 years of service (from May 1990 to March 2010). We also reviewed data from patients whose first visit took place within the last five years (2005-2010) and compared them to data obtained from a prior study carried out in this Unit from 1990 to 1995. To compare the first 5 years (group 1) with the last 5 years (group 2), we calculated confidence intervals, P<.05, for the frequency distribution (%) in each category. RESULTS: Main reasons for consultation and principal diagnoses for the 12726 patients evaluated in the 20-year period, as well as results from group 1 (2046 patients) and group 2 (4488 patients) corresponding to first and the last 5 years of activity respectively, are presented with their confidence intervals in a series of tables. CONCLUSIONS: Variations in the reasons for consultation, diagnoses and complementary tests over time reflect changes determined by medical, scientific and social progress, and organisational changes specific to each hospital. This explains the difficulty of comparing different patient series studied consecutively, which are even more pronounced between different hospitals.

Our experience with the aetiological diagnosis of global developmental delay and intellectual disability: 2006-2010.

INTRODUCTION: Global developmental delay (GDD) and intellectual disability (ID) are common reasons for consultation in paediatric neurology. Results from aetiological evaluations of children with GDD/ID vary greatly, and consequently, there is no universal consensus regarding which studies should be performed. MATERIAL AND METHOD: We review our experience with determining aetiological diagnoses for children with GDD/ID who were monitored by the paediatric neurology unit over the 5-year period between 2006 and 2010. RESULTS: During the study period, 995 children with GDD/ID were monitored. An aetiological diagnosis was established for 309 patients (31%), but not in 686 (69%), despite completing numerous tests. A genetic cause was identified in 142 cases (46% of the total aetiologies established), broken down as 118 cases of genetic encephalopathy and 24 of metabolic hereditary diseases. Our data seem to indicate that diagnosis is easier when GDD/ID is associated with cerebral palsy, epilepsy, infantile spasms/West syndrome, or visual deficit, but more difficult in cases of autism spectrum disorders. Genetic studies provide an increasing number of aetiological diagnoses, and they are also becoming the first step in diagnostic studies. Array CGH (microarray-based comparative genomic hybridisation) is the genetic test with the highest diagnostic yield in children with unexplained GDD/ID. DISCUSSION: The cost-effectiveness of complementary studies seems to be low if there are no clinically suspected entities. However, even in the absence of treatment, aetiological diagnosis is always important in order to provide genetic counselling and possible prenatal diagnosis, resolve family (and doctors') queries, and halt further diagnostic studies.

Prenatal encephalopathies of unknown origin. Our 19-years experience. To what extent must genetic and biochemical studies be carried out?

INTRODUCTION: We examine those prenatal encephalopathies with clinical or neuroimaging data of encephalopathy before the birth. They affect a significant number of children seen by paediatric neurologists. They can be of disruptive origin (due to vascular problems, drugs, toxins or congenital infections), and genetically determined. We include cases of autism spectrum disorder and mental retardation with no history of perinatal of postnatal damages. MATERIAL AND METHODS: We analysed our 19 year neuro-paediatric data base in search of prenatal encephalopathies and their diagnostic origin. We also analyse the studies made in the cases with a diagnosis of unknown origin. RESULTS: The 19 year period of study in the data base included 11,910 children, and 1596 (13.5%) were considered as prenatal encephalopathies; 1307 children (81.4%) had a diagnosis of unknown origin, despite many investigations being done in a large number of them. DISCUSSION: Most of the children included in this study suffer a rare disease, and whether they are identified or not, they increasingly require an early diagnosis. Peroxisomal, mitochondrial, lysosomal diseases, carbohydrate glycosylation deficiency syndrome and other inborn error of metabolism, congenital infections and genetic encephalopathies, can be clinically indistinguishable in early life and require specific studies to identify them. Early diagnosis requires strategies using step-wise systematic studies, giving priority to those diseases that could be treated, and in many cases using an individualised approach. We believe that the potential benefits of early diagnosis, including savings on further studies, genetic counselling and prenatal diagnosis, overcome the financial costs.

Optic neuritis in paediatric patients: Experience over 27 years and a management protocol. / Neuritis óptica en pediatría: experiencia en 27 años y protocolo de actuación.

INTRODUCTION AND OBJECTIVE: In this article, we present our experience on optic neuritis (ON) and provide a diagnostic/therapeutic protocol, intended to rule out other aetiologies (particularly infection), and a fact sheet for parents. MATERIAL AND METHODS: We conducted a descriptive, retrospective study of patients with ON over a 27-year period (1990-2017). A review of the available scientific evidence was performed in order to draft the protocol and fact sheet. RESULTS: Our neuropaediatrics department has assessed 20,744 patients in the last 27 years, of whom 14 were diagnosed with ON: 8 had isolated ON, 1 had multiple sclerosis (MS), 1 had clinically isolated syndrome (CIS), 3 had acute disseminated encephalomyelitis, and 1 had isolated ON and a history of acute disseminated encephalomyelitis one year previously. Patients' age range was 4-13 years; 50% were boys. Eight patients were aged over 10: 7 had isolated ON and 1 had MS. Nine patients had bilateral ON, and 3 had retrobulbar ON. MRI results were normal in 7 patients and showed involvement of the optic nerve only in 2 patients and optic nerve involvement + central nervous system demyelination in 5. Thirteen patients received corticosteroids. One patient had been vaccinated against meningococcus-C the previous month. Progression was favourable, except in the patient with MS. A management protocol and fact sheet are provided. CONCLUSIONS: ON usually has a favourable clinical course. In children aged older than 10 years with risk factors for MS or optic neuromyelitis (hyperintensity on brain MRI, oligoclonal bands, anti-NMO antibody positivity, ON recurrence), the initiation of immunomodulatory treatment should be agreed with the neurology department. The protocol is useful for diagnostic decision-making, follow-up, and treatment of this rare disease with potentially major repercussions. The use of protocols and fact sheets is important.

[Pediatric cerebrovascular accident secondary to fibromuscular dysplasia]. / Accidente cerebrovascular pediátrico secundario a displasia fibromuscular.

We present the case of a 13 year-old patient diagnosed with fibromuscular dysplasia (FMD) by angiographic study, with "string of beads" image of internal carotid, after undergoing two ischemic strokes in nine days. Conservative treatment with acetylsalicylic acid at antiaggregant doses was decided. Twenty months later the clinical progress is favorable without presenting any new episodes. FMD is a very uncommon cause of stroke in childhood. Little is known about its etiology. In spite of it usually being an asymptomatic disease, it must be considered in cases of repeated or inexplicable strokes. Its prognosis and treatment is controversial, due to the limited number of pediatric patients with this pathology.

[Benign intracranial hypertension: experience over 18 years]. / Hipertensión intracraneal benigna. Experiencia en 18 años.

INTRODUCTION: There are transient intracranial hypertension cases, recognizable by bulging fontanelle in infants and by papilloedema in children. We present our experience in benign intracranial hypertension (BIH) cases, excluding traumatic brain injuries, encephalitis and meningitis. RESULTS: Among the entire neuropaediatric database, with 10,720 children in 18 years, 31 cases had the diagnosis of BIH. Sixteen aged between 2.3 and 8.9 months (75% males), all of them with transient bulging fontanelle, and 15 aged between 4.4 and 13.7 years (73.3% females), all of them with papilloedema which was subsequently resolved. A total of 75% of infants had recently finished corticosteroid treatment for bronchitis. In the older children, there was 1 case associated with excessive vitamin A intake and 1 mastoiditis. Transfontanelle ultrasonography or CT was performed on all infants and CT or MRI in every child. Lumbar puncture was also performed on 7 infants and on 13 children. Infants developed favourably in a few days, and children did so between 1 week and 5 months, some with treatment. DISCUSSION: BIH usually has a favourable outcome, although it may take longer in children than in infants, but it can have serious visual repercussions, even blindness, so ophthalmological control is necessary. It is normally diagnosed by exclusion of other intracranial hypertension causes. MRI and lumbar puncture must be done on all children or infants who do not progress favourably. Acetazolamide and furosemide, corticosteroids, repeated lumbar punctures and optic nerve sheath fenestration should be considered in those who do not progress well.

Efficacy of Ologen matrix implant in Ahmed Glaucoma Valve Implantation.

To determine the efficacy and safety of the Ologen collagen matrix adjunctive to Ahmed valve surgery. A randomized prospective multicentre clinical trial involving 58 patients that were followed for one year. Conventional surgery with Ahmed valve was performed in 31 eyes (Control group/CG) and in 27 Ologen (Ologen group/OG) was placed over the valve's plate. Baseline data: age, corneal thickness, intraocular pressure(IOP) and antiglaucoma medications.Postoperative data (days 1, 7 and months 1, 3, 6 and 12): IOP, antiglaucoma medications, visual acuity and complications were recorded. Frequency of hypertensive phase, complete and qualified success and survival rate were studied. No differences were found between CG and OG in the baseline data. The only difference between groups was a significantly lower IOP at day 1. No other differences were found in the follow-up between groups. Hypertensive phase (56%CG and 55%OG, p = 0,947), complete success 28,6%CG and 30,4%OG (p = 0,88) and qualified success 96,4% and 95,9%(p = 0,794). Survival rates at 1 year were 76,7%(CG) and 69,2%(OG)(p = 0,531). 38,7% of patients in the CG suffered some complication during follow-up and 61,5% in OG(p = 0,086). Ologen does not increase safety or efficacy in Ahmed valve surgery at one-year follow-up. This is the first study that shows no benefit of Ologen adjunctive to this surgery.

[Central sleep apnea syndrome as the first sign of type I Chiari malformation]. / Síndrome de apnea central del sueño como primera manifestación de malformación de Chiari tipo I.

INTRODUCTION: Type I Chiari malformation consists on the caudal displacement of cerebellar tonsils through the foramen magnum. It is often asymptomatic, although it may display symptoms as a result of cerebellum, brainstem, high cervical spinal cord or the lower cranial nerve, involvement. OBJECTIVE: We report our experience over the last 16 years. We have identified 16 patients with type I Chiari malformation. Only 2 cases showed common type I Chiari symptoms and just one had respiratory disorder as the first clinical sign. CLINICAL CASE: A 15 year old girl presented with a 5 years' history of chronic daily cough aggravated by exercise. Snoring and sleep apnea had been noted by her mother for 1 year. The girl eventually suffered from migraine and diurnal hypersomnolence. The physical and neurological examination was normal with the only exception being the absence of bilateral nauseous reflex. A nocturnal polysomnography study demonstrated a pseudoperiodic pattern with apnea pauses associated to cycles of deep breathing, resulting in severe gasometric repercussion and bradycardia. Magnetic resonance imaging of the brain showed Chiari I malformation. Non-invasive mechanical ventilation treatment significantly improved the clinical symptoms and gasometric analysis. DISCUSSION: Surgical posterior fossa decompression is discussed. Early decompression before appearance of irreversible neurological damage is recommended. It is associated with a significant reduction in the number of central apneas and sleep arousals. Surgical intervention is recommended in symptomatic patients and in cases of radiographic Chiari malformation or syrinx progression.

Lifestyles guide and glaucoma (II). Diet, supplements, drugs, sleep, pregnancy, and systemic hypertension. / Guía de estilos de vida y glaucoma (II). Dieta, suplementos, drogas, sueño, embarazo e hipertensión arterial.

PURPOSE: To establish evidence based guidelines to advise patients on the relationship between habits, diet, certain circumstances, diseases and glaucoma. METHODS: Review of all published articles on glaucoma and sports or other activities. The papers were classified according to the level of scientific evidence based on the Oxford Centre for Evidence-based Medicine classification. RESULTS: The evidence on the relationship between diet or supplements and the incidence or progression of glaucoma is insufficient to make a general recommendation for glaucoma patients. Although some studies on normal tension glaucoma suggest that Gingko biloba could reduce glaucoma progression, the results do not allow a general recommendation for all these patients. Similarly, the evidence on the usefulness of vitamin supplements is not conclusive. The studies on smoking do not clearly demonstrate the relationship between this habit and incidence of glaucoma. Marihuana is not a useful treatment for glaucoma. Although the results on the relationship between sleep apnoea and glaucoma are heterogeneous, it is recommended that patients with moderate to intense apnoea are tested for glaucoma. Pregnancy does not influence the course of the disease, but several hypotensive drugs may be harmful for the foetus. Nocturnal systemic hypotension is a risk factor for glaucoma progression. CONCLUSIONS: Certain habits, circumstances, or diseases may have an influence on the onset or progression of glaucoma. It is important to have adequate information about the scientific evidence in the publications in order to properly advise patients.

Lifestyles guide and glaucoma (i). Sports and activities. / Guía de estilos de vida y glaucoma (i). Deporte y actividades.

PURPOSES: The increase in quality and life expectancy, often leads to many patients asking the glaucoma specialist whether some sports, activities or hobbies would affect their illness. The aim of this article is to establish guidelines for patients, based on the scientific evidence of published papers. METHODS: Review of all published articles on glaucoma and sports or other activities. The papers were classified according to the level of scientific evidence based on the Oxford Centre for Evidence-Based Medicine classification. RESULTS: Aerobic sports are beneficial for the patient. Yoga indoor sports or relaxation techniques should be avoided if Valsalva manoeuvres are performed or the head is placed very low. Also, the patients must avoid sudden changes in height. Intense heat does not seem to lead to progression of glaucoma, but intense cold can affect patients with vascular dysregulation. Activities using the near vision slightly reduce the intraocular pressure. The use of wind instruments may raise intraocular pressure, depending on the technique used. CONCLUSIONS: Certain sports and activities may have an influence on the onset or progression of glaucoma. Glaucoma specialists should have adequate information about the scientific evidence in the publications, in order to properly advise the patients.

[Myths and evidence on the use of botulinum toxin: neuropharmacology and dystonia]. / Mitos y evidencias en el empleo de la toxina botulinica: neurofarmacologia y distonias.

INTRODUCTION: Botulinum toxin type A (BTA) is a bacterial endotoxin, whose therapeutic use has had a dramatic impact on different neurological disorders, such as dystonia and spasticity. AIM: To analyze and summarize different questions about the use of BTA in our clinical practice. DEVELOPMENT: A group of experts in neurology developed a list of topics related with the use of BTA. Two groups were considered: neuropharmacology and dystonia. A literature search at PubMed, mainly for English language articles published up to June 2016 was performed. The manuscript was structured as a questionnaire that includes those questions that, according to the panel opinion, could generate more controversy or doubt. The initial draft was reviewed by the expert panel members to allow modifications, and after subsequent revisions for achieving the highest degree of consensus, the final text was then validated. Different questions about diverse aspects of neuropharmacology, such as mechanism of action, bioequivalence of the different preparations, immunogenicity, etc. were included. Regarding dystonia, the document included questions about methods of evaluation, cervical dystonia, blepharospasm, etc. CONCLUSION: This review does not pretend to be a guide, but rather a tool for continuous training of residents and specialists in neurology, about different specific areas of the management of BTA.

TITLE: Mitos y evidencias en el empleo de la toxina botulinica: neurofarmacologia y distonias.Introduccion. La toxina botulinica de tipo A (TBA) ha supuesto una verdadera revolucion terapeutica en neurologia, y en la actualidad es el tratamiento rutinario en las distonias focales y la espasticidad. Objetivo. Plantear, revisar y responder cuestiones controvertidas en relacion con la neurofarmacologia de la TBA y su uso en las distonias en la practica clinica habitual. Desarrollo. Un grupo de expertos en trastornos del movimiento reviso una lista de temas controvertidos relacionados con la farmacologia de la TBA y su uso en las distonias. Revisamos la bibliografia e incluimos articulos relevantes especialmente en ingles, pero tambien, si su importancia lo merece, en castellano y en frances, hasta junio de 2016. El documento se estructuro como un cuestionario que incluyo las preguntas que podrian generar mayor controversia o duda. El borrador inicial del documento fue revisado por los miembros del panel y se realizaron las modificaciones necesarias hasta alcanzar el mayor grado de consenso. Incluimos preguntas sobre diferentes aspectos de la neurofarmacologia, especialmente el mecanismo de accion, la bioequivalencia de los diferentes preparados y la inmunogenicidad. En relacion con el subapartado de las distonias, se incluyeron aspectos sobre la evaluacion y el tratamiento de las distonias focales. Conclusiones. Esta revision no pretende ser una guia, sino una herramienta practica destinada a neurologos y medicos internos residentes interesados en esta area, dentro de diferentes ambitos especificos del manejo de la TBA.

[Facial paralysis reported in a paediatric emergency department: actuation protocol reviewed and verified]. / Parálisis facial en urgencias de pediatría: actualización de nuestro protocolo y autoevaluación.

INTRODUCTION: As result of our aim to improve the quality standard of our emergency system, work has been carried out in relation to the development and monitorization of effective clinical protocols in the department of paediatric practice. PATIENTS AND METHODS: An evidence based review approach was taken to design a clinical protocol about Bell's palsy condition for the paediatric emergency department. Previous protocol approved in March 2003 was reviewed accordingly with the new designed protocol's quality standards. The Bell's palsy cases reported since March 2003 until June 2006 to paediatric emergency department were analyzed. RESULTS: A total of 27 patients affected by Bell's palsy were reported to the hospital's emergency department. Facial expression was described in 85.19% of the cases. Cranial nerves normal function was reported in 77.78%. Fundoscopic examination was described in 77.78% and otoscopic findings in 44.44%; the absence of herpes vesicles was analyzed only in 11.11%. All patients received steroid therapy (prednisone) and the treatment resulted in the complete recovery. The mean time to resolution was 58.6 days. CONCLUSIONS: In order to improve hospital's quality standards, clinical protocols should be designed and verified regularly to ensure the proper performance. Medical auditing also contributes to improve effectiveness in health attendance.

Clinical, fundoscopic, tomographic and angiographic characteristics of dome shaped macula classified by bulge height. / Estudio de las características clínicas, fundoscópicas, tomográficas y angiográficas de la mácula en domo según la altura de protrusión macular.

OBJECTIVE: To classify dome shaped macula cases by their bulge height (BH). To analyse the characteristics associated with the groups formed by this classification. METHODS: Observational, descriptive and cross-sectional study on 15 selected eyes with dome shaped macula and high myopia. Using Caillaux method and optical coherence tomography images, 3groups were determined by their BH: low (50-350 µ), medium (351-650 µ), and high (>650 µ), and a study of visual acuity, axial length, presence of subfoveal serous detachment, and images by fluorescein angiography and optic coherence tomography, as main variables. The confidence interval was 95%. RESULTS: By using the chi-squared test, the study showed that a BH higher than 400 µ was associated with lower visual acuity, presence of subfoveal serous detachment, and greater atrophy of the retinal pigment epithelium measured by disc diameters (P<.05). CONCLUSIONS: The medium and high BH showed a positive correlation with the presence of foveal serous detachment and a lower visual acuity.

[Atypical growth of an intracranial lipoma]. / Crecimiento atípico en un lipoma intracraneal.

TITLE: Crecimiento atípico en un lipoma intracraneal.

[A study of the demand for health care in hereditary-metabolic diseases in a Spanish tertiary care hospital]. / Estudio de la demanda asistencial de las enfermedades metabolico-hereditarias en un hospital español de tercer nivel.

AIM: To determine the characteristics of the demand for health care in hereditary-metabolic diseases in a Spanish tertiary care hospital. PATIENTS AND METHODS: We conducted a retrospective descriptive study involving a review of the epidemiological data, reasons for visiting, diagnoses and complementary studies of the patients treated by a metabolic disease unit over a period of 6 years and 11 months. RESULTS: Altogether 1012 patients were evaluated. There was a predominance of males (52%) and of patients under the age of 1 year (42.09%). 71.44% of them were under 6 years old. Approximately half of the patients (50.3%) came from hospitals (wards, outpatients, neonatology, emergency department, neuropaediatrics and intensive care), followed by the neonatal screening programme (20.36%) and primary care (14.82%). The most frequent reasons for visiting and diagnoses can be seen in their respective tables. CONCLUSIONS: The study of the demand for health care in hereditary-metabolic diseases is useful as a means to detect needs in their field and to try to adapt care to meet them. Medical, scientific and social progress makes it necessary to have an expert in metabolism present in reference clinical units. As members of multidisciplinary teams alongside other specialists, they will contribute towards accomplishing a suitable presumptive diagnosis, diagnosis, management and follow-up. It is necessary to keep them constantly up-to-date and ensure adequate training of new experts in metabolism, since this is the best way to deliver optimal care for those with metabolic illnesses, which are usually rare diseases.

TITLE: Estudio de la demanda asistencial de las enfermedades metabolico-hereditarias en un hospital español de tercer nivel.Objetivo. Conocer las caracteristicas de la demanda asistencial de las enfermedades metabolico-hereditarias en un hospital español de tercer nivel. Pacientes y metodos. Estudio descriptivo retrospectivo en el que se revisan los datos epidemiologicos, los motivos de consulta, los diagnosticos y los estudios complementarios de los pacientes atendidos por la unidad de enfermedades metabolicas durante un periodo de 6 años y 11 meses. Resultados. Se valoraron un total de 1.012 pacientes. Hay un predominio de varones (52%) y de pacientes menores de 1 año (42,09%). El 71,44% son menores de 6 años. Los pacientes provienen en un 50,3% del ambito hospitalario (planta, consultas externas, neonatologia, urgencias, neuropediatria y cuidados intensivos), seguido del programa de cribado neonatal (20,36%) y de atencion primaria (14,82%). Conclusiones. El estudio de la demanda asistencial de las enfermedades metabolico-hereditarias es util para detectar necesidades en su campo y tratar de adecuar la asistencia a estas. Los avances medicos, cientificos y sociales hacen necesaria la existencia del experto en metabolismo en unidades clinicas de referencia, integrado en equipos multidisciplinares con otros especialistas, para una adecuada sospecha, diagnostico, manejo y seguimiento. Debe estar en continua actualizacion y garantizar la adecuada formacion de nuevos expertos en metabolismo, la mejor via para una optima atencion de los pacientes afectados de enfermedades metabolicas, habitualmente enfermedades raras.