Neurological toxicity after phenytoin infusion in a pediatric patient with epilepsy: influence of CYP2C9, CYP2C19 and ABCB1 genetic polymorphisms.

Pharmacogenetic studies have shown that genetic defects in drug-metabolizing enzymes encoded by CYP2C9, CYP2C19 genes and by the transporter ABCB1 gene can influence phenytoin (PTH) plasma levels and toxicity. The patient reported here is a 2-year-old girl with a medical history of cryptogenic (probably symptomatic) epilepsy, who had her first focal seizure with secondary generalization at 13 months of age. She initially received oral valproate treatment and three months later, she was prescribed an oral oxcarbazepine treatment. At 20 months of age, she was admitted to the Emergency Department because of generalized convulsive Status Epilepticus needing to be immediately treated with rectal diazepam (0.5 mg kg(-1)), intravenous diazepam (0.3 mg kg(-1)), and intravenous phenytoin with an initial-loading dose of 15 mg kg(-1). However, two hours after the initial-loading dose of PTH, the patient developed dizziness, nystagmus, ataxia and excessive sedation. Other potential causes of PTH toxicity were excluded such as drug interactions, decreased albumin or lab error. Therefore, to explain the neurological toxicity, PTH plasma levels and CYP2C9, CYP2C19 and ABCB1 genetic polymorphisms were analyzed. Initial plasma PTH levels were higher than expected (69 mg l(-1); normal range: 10-20 mg l(-1)), and the patient was homozygous for the CYP2C9*2 allele, heterozygous for the CYP2C19*4 allele and homozygous for the 3435C and 1236C ABCB1 alleles. Present findings support the previously established relationship between CYP2C9 and CYP2C19 genetic polymorphisms and the increased risk to develop PTH toxicity owing to high plasma concentrations. Nevertheless, although the association of these genes with PTH-induced adverse effects has been well-documented in adult populations, this is the first report examining the influence of these genetic polymorphisms on PTH plasma levels and toxicity in a pediatric patient.

[Genetic and clinical diagnosis of Angelman syndrome. Case Reviews]. / Síndrome de Angelman: diagnóstico genético y clínico. Revisión de nuestra casuística.

INTRODUCTION: Angelman syndrome is characterised by mental retardation, epilepsy, speech impairment, facial dysmorphism and a characteristic behavioural phenotype. Diagnostic clinical criteria have been defined by consensus since 1995. It is caused by deficiency or inactivation of the UB3A gene. There is a percentage of cases which satisfy these clinical features but have negative genetic testing. We consider it necessary to analyse the patient characteristics and possible phenotype-genotype correlations. MATERIAL AND METHODS: All cases which were treated between 1981 and 2007 in a neurology unit and fulfilled the clinical criteria were included. Genetic diagnosis was made by methylation testing and fluorescent in situ hybridization. RESULTS: Thirteen patients were studied, nine with positive genetic testing and four with negative testing who completed the clinical criteria. The average age at diagnosis was 37 months. Eleven cases showed acquired microcephaly. Flat occiput, mouth and maxillary malformations, hypopigmentation, a happy appearance and hyperactivity were practically constant characteristics. Speech and walking ability were the areas which showed most deficit. Twelve cases had epilepsy. Three of the cases with normal genetic testing showed less microcephaly and better psychomotor development, particularly in walking ability. CONCLUSIONS: The phenotypical characteristics of the syndrome should be known before requesting specific genetic testing and to make a diagnosis even in cases with negative genetic. The phenotype characteristics that describe Angelman syndrome were verified. Deletion cases had a worse outcome.

[Acute polyneuropathies in a hospital in the south of Spain: ten years' experience]. / Polineuropatias agudas en un hospital del sur de España: diez años de experiencia.

INTRODUCTION: Guillain-Barre syndrome is the most frequent cause of acute flaccid paralysis in children. AIM: To describe the characteristics of patients diagnosed with acute polyneuropathies and their long-term progress. PATIENTS AND METHODS: We conducted a retrospective descriptive analysis of children under 14 years of age admitted to our hospital between January 2004 and December 2014. Clinical, demographic and neurophysiological variables were collected together with other imaging tests. RESULTS: Twenty-six patients, with a mean age of 3.83 years, were diagnosed with acute polyneuropathies, four of them of Moroccan origin. Twenty of them (76%) had a history of previous infection. The mean time elapsed since the onset of the symptoms until admission to hospital was 9.2 days, and from admission until beginning with gamma globulins it was 1.6 days. The clinical signs and symptoms prior to diagnosis were of a very heterogeneous nature. They all presented muscular weakness; 90% displayed areflexia; and 30% showed involvement of the cranial nerves. All of them (100%) received intravenous gamma globulins, and 38.4% were given systemic corticosteroids. Two patients presented chronification of the pathology. There was no mortality in the series. CONCLUSIONS: The patients included in our study presented very unspecific symptoms in the early phases, which initially led to alternative diagnoses. To avoid this delay in the diagnosis, it is essential to perform an exhaustive physical examination that includes the myotatic reflexes and to maintain a high level of suspicion of the disease even with normal results in the complementary tests if they are performed at an early stage. We detected a greater number of cases of axonal polyneuropathy, which can possibly be explained by the high number of patients of Moroccan origin who were treated.

TITLE: Polineuropatias agudas en un hospital del sur de España: diez años de experiencia.Introduccion. El sindrome de Guillain-Barre es la causa mas frecuente de paralisis flacida aguda en niños. Objetivo. Describir caracteristicas de los pacientes diagnosticados de polineuropatias agudas y su evolucion a largo plazo. Pacientes y metodos. Analisis descriptivo retrospectivo de los menores de 14 años ingresados en nuestro hospital entre enero de 2004 y diciembre de 2014. Se recogieron variables clinicas, demograficas, neurofisiologicas y otras pruebas de imagen. Resultados. Veintiseis pacientes, con una mediana de edad de 3,83 años, fueron diagnosticados de polineuropatias agudas, cuatro de ellos de origen marroqui. Veinte (76%) tenian antecedentes de infeccion previa. El tiempo medio desde el inicio de los sintomas hasta su ingreso fue de 9,2 dias y, desde este hasta el inicio de gammaglobulinas, de 1,6 dias. La sintomatologia que precedio al diagnostico fue de caracter muy heterogeneo. Todos presentaron debilidad muscular; el 90%, arreflexia; y el 30%, afectacion de los pares craneales. El 100% recibio gammaglobulinas intravenosas, y el 38,4%, corticoides sistemicos. Presentaron cronificacion de la patologia dos pacientes. No hubo mortalidad en la serie. Conclusiones. Los pacientes incluidos en nuestro estudio presentaron en fases tempranas sintomas muy inespecificos que llevaron a diagnosticos alternativos iniciales; para evitar este retraso diagnostico, resulta fundamental realizar una exhaustiva exploracion fisica que incluya los reflejos osteotendinosos y mantener un alto indice de sospecha de la enfermedad aun con normalidad en las pruebas complementarias si estas son precoces. Detectamos un mayor numero de polineuropatia axonal, posiblemente explicado por el elevado numero de pacientes atendidos de origen marroqui.

[Optic neuritis in childhood. A pediatric series, literature review and treatment approach]. / Neuritis optica en la infancia. Casuistica, revision de la bibliografia y propuesta de tratamiento.

INTRODUCTION: In children, the most common form of optic neuritis usually occurs after an infectious disease with papilledema, usually bilateral and has a good prognosis. Conversion to multiple sclerosis is low. AIM: To present clinical and laboratory case of optic neuritis in pediatrics features. PATIENTS AND METHODS: Seventeen clinical cases of optic neuritis in children and young people aged 4-14 years, referred from 2000 to 2015 were analyzed. RESULTS: The median age of the series was 11 years. They predominated the female patients and infectious history was uncommon; in five of 17 patients was bilateral engagement and four cases evolved with retrobulbar optic neuritis. Magnetic resonance imaging showed hyperintensity on T2 in the optic nerves affected in five patients. The study of cerebrospinal fluid and oligoclonal bands was normal in all cases. Patients treated with intravenous methylprednisolone had good recovery. It was found subsequent evolution to multiple sclerosis only in three cases. CONCLUSIONS: In our series, the cases that evolved multiple sclerosis showed no clinical differences although they had a higher number of hyperintense lesions on magnetic resonance imaging. This fact, described in previous studies, supports our diagnostic and therapeutic scheme in an attempt to approach the optimal management of this disease.

TITLE: Neuritis optica en la infancia. Casuistica, revision de la bibliografia y propuesta de tratamiento.Introduccion. En la edad pediatrica, la forma mas frecuente de neuritis optica se presenta generalmente despues de un cuadro infeccioso, con edema de papila, que suele ser bilateral y tiene buen pronostico. La conversion a esclerosis multiple es infrecuente. Objetivo. Presentar las caracteristicas clinicas y de laboratorio de una serie pediatrica de neuritis optica. Pacientes y metodos. Se analiza una serie de 17 casos de neuritis optica en niños y jovenes de 4 a 14 años, referidos entre los años 2000 y 2015. Resultados. La edad mediana de la serie fue de 11 años. Predominaron los pacientes de sexo femenino y el antecedente infeccioso fue poco frecuente; en cinco pacientes, la afectacion fue bilateral, y cuatro casos se presentaron como neuritis optica retrobulbar. La resonancia magnetica mostro hiperintensidad en T2 en los nervios opticos afectados en cinco pacientes. El estudio del liquido cefalorraquideo y bandas oligoclonales fue normal en todos los casos. Los pacientes, tratados con metilprednisolona intravenosa, tuvieron buena recuperacion. Solo en tres casos se comprobo una evolucion posterior a esclerosis multiple. Conclusiones. En esta serie, los casos que evolucionaron a esclerosis multiple no mostraron diferencias clinicas, aunque si presentaron mayor cantidad de lesiones hiperintensas en la resonancia magnetica. Este hecho, descrito en trabajos previos, apoya nuestro esquema diagnostico y terapeutico en un intento por acercarnos al manejo optimo de esta patologia.

[Autosomal recessive GTPCH 1 deficiency: the importance of the analysis of neurotransmitters in cerebrospinal fluid]. / Deficit de GTPCH 1 autosomico recesivo: importancia del analisis de los neurotransmisores en el liquido cefalorraquideo.

INTRODUCTION: A deficiency of the enzyme guanosine triphosphate cyclohydrolase I (GTPCH 1) causes a reduction in the synthesis of tetrahydrobiopterin (BH4), a cofactor that is essential in the synthesis of tyrosine, dopamine and serotonin. It is an infrequent disease that produces psychomotor delay or regression and movement disorders, although treatment can improve or even correct the clinical signs and symptoms. CASE REPORT: We report the case of a girl with autosomal recessive GTPCH deficiency, who was diagnosed at 14 months by means of an analysis of the cerebrospinal fluid with pterin, HVA and 5-HIAA deficiency, and positive phenylalanine overload test and genetic study. The clinical features began at the age of 5 months with intermittent upper limb and brain tremors, both at rest and intentional, that disappeared after a month. Psychomotor development was normal, mild axial hypotonia being found in the examination while the complementary tests that were performed were normal. The patient later presented psychomotor regression with loss of head control, diminished active movements, difficulty in bimanual manipulation, hypomimia and severe global hypotonia, which was the reason for the study of a progressive encephalopathy. Following the diagnosis of GTPCH deficiency, replacement therapy was established with levodopa/carbidopa, OH tryptophan and BH4, with excellent progress made in motor and cognitive functioning. Today, the patient is 5 years old, has an adequate psychomotor development for her age, is in the third year of preschool education and has caught up with the level of the rest of her classmates. CONCLUSION: In this case attention must be drawn to the extremely satisfactory motor and cognitive improvement of the patient after starting replacement therapy, as in many cases the cognitive level is usually affected on a permanent basis.

TITLE: Deficit de GTPCH 1 autosomico recesivo: importancia del analisis de los neurotransmisores en el liquido cefalorraquideo.Introduccion. El deficit de la enzima trifosfato de guanosina ciclohidrolasa 1 (GTPCH 1) origina una disminucion de la sintesis de la tetrahidrobiopterina (BH4), cofactor indispensable en la sintesis de la tirosina, la dopamina y la serotonina. Es una enfermedad poco frecuente que produce un retraso o regresion psicomotora y trastornos del movimiento, y en la que el tratamiento puede mejorar o incluso corregir la clinica. Caso clinico. Niña afecta de deficit de GTPCH con herencia autosomica recesiva, diagnosticada a los 14 meses con estudio del liquido cefalorraquideo con deficit de pterinas, HVA y 5-HIAA, test de sobrecarga de fenilalanina y estudio genetico positivos. La clinica comenzo a los 5 meses con temblor cefalico y de las extremidades superiores, en reposo e intencional, intermitente, que desaparecio en un mes. El desarrollo psicomotor era normal, destacaba una hipotonia axial leve en la exploracion y las pruebas complementarias realizadas fueron normales. Posteriormente presento regresion psicomotora con perdida del sosten cefalico, disminucion de los movimientos activos, dificultad para la manipulacion bimanual, hipomimia e hipotonia global grave, lo que motivo el estudio de una encefalopatia progresiva. Tras el diagnostico de deficit de GTPCH, inicio tratamiento sustitutivo con levodopa/carbidopa, OH triptofano y BH4, con muy buena evolucion tanto motora como cognitiva. Actualmente, la paciente tiene 5 años, presenta un desarrollo psicomotor adecuado a su edad, cursa tercer curso de educacion infantil y ha alcanzado el nivel de su clase. Conclusion. Hay que destacar en este caso la mejoria tan satisfactoria, tanto motora como cognitiva, tras iniciar el tratamiento sustitutivo, ya que el nivel cognitivo suele quedar afectado en muchos casos.

[Infantile spinal atrophy: our experience in the last 25 years]. / 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.

Enhancement of surface inspection by Moiré interferometry using flexible reference gratings.

We have extended the use of shadow Moiré technique to be implemented in simple curved surfaces by using a flexible grating. Dynamic visual inspection of surface micro-damages is significantly favored by the use of well adapted pliable gratings compared to the use of flat reference gratings. The experimental set-up consists of a plastic foil with a printed Ronchi grating stretched between three points which adapts to any cylindrical or conical convex surface independently of the relative orientation grating/surface. Static quantification of defects profiles is also possible with an attached CCD camera. Visual detection of defects in the range of ~30 microm in depth is obtainable.

[Kinsbourne syndrome: review of our cases]. / Síndrome de Kinsbourne: revisión de nuestra casuística.

INTRODUCTION: The childhood opsoclonus-myoclonus or Kinsbourne syndrome, is a uncommon process, of acute or subacute beginning, which affects infant and children. It's course is characterized by opsoclonus, polimyoclonias and cerebellar ataxia. The disease is frequently associated to neuroblastoma (46%). MATERIAL AND METHODS: We present a retrospective study on 9 patients, emphasizing the clinical presentation and the evolution aspects. RESULTS AND CONCLUSIONS: We found changes in the EEG in three cases. Most surprising is the scarce incidence of neuroblastoma, which has been found only in a one out of nine patients. We found three cases with relapse during the treatment or on withdrawal and one of them relapsed twice again. The evolution has been variable, since 5/9 patient have presented some type of mild or moderate neuro-psychological sequelae. Out of three patient with relapses, two presented permanent neurological sequelae. A patient which suffered three relapses, is also the one which presents more serious sequelae.

[Acute disseminated encephalomyelitis: epidemiological, clinical, and outcome analysis in 16 patients]. / 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.

[Complex febrile seizures: study of the associated pathology and practical use of complementary tests]. / 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.

[Gastroenteritis-related seizures: study of incidence and clinical analysis]. / 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.

Response to methylphenidate by adult and pediatric patients with attention-deficit/hyperactivity disorder: the Spanish multicenter DIHANA study.

BACKGROUND: The purpose of this multicenter Spanish study was to evaluate the response to immediate-release methylphenidate by children and adults diagnosed with attention-deficit/hyperactivity disorder (ADHD), as well as to obtain information on current therapy patterns and safety characteristics. METHODS: This multicenter, observational, retrospective, noninterventional study included 730 patients aged 4-65 years with a diagnosis of ADHD. Information was obtained based on a review of medical records for the years 2002-2006 in sequential order. RESULTS: The ADHD predominantly inattentive subtype affected 29.7% of patients, ADHD predominantly hyperactive-impulsive was found in 5.2%, and the combined subtype in 65.1%. Overall, a significant lower Clinical Global Impression (CGI) score and mean number of DSM-IV TR (Diagnostic and Statistical Manual of Mental Disorders Fourth Edition, Text Revision) symptoms by subtype were found after one year of treatment with immediate-release methylphenidate; CGI decreased from 4.51 to 1.69, symptoms of inattention from 7.90 to 4.34, symptoms of hyperactivity from 6.73 to 3.39, and combined subtype symptoms from 14.62 to 7.7. Satisfaction with immediate-release methylphenidate after one year was evaluated as "very satisfied" or "satisfied" by 86.90% of the sample; 25.75% of all patients reported at least one adverse effect. At the end of the study, 41.47% of all the patients treated with immediate-release methylphenidate were still receiving it, with a mean time of 3.80 years on therapy. CONCLUSION: Good efficacy and safety results were found for immediate-release methylphenidate in patients with ADHD.

[Borderline phenotype of Pelizaeus-Merzbacher disease]. / Fenotipo frontera de la enfermedad de Pelizaeus-Merzbacher.

TITLE: Fenotipo frontera de la enfermedad de Pelizaeus-Merzbacher.

[Epileptic spasms without hypsarrhythmia. A new case report and review of the literature]. / Espasmos epilepticos sin hipsarritmia. Aportacion de un nuevo caso y revision de la bibliografia.

INTRODUCTION: The term 'epileptic spasm' must be used to refer to a type of seizure that is typically found in childhood. Clinically, it is expressed as brief axial contractions, in flexion, extension or mixed, which can be symmetrical or asymmetrical and usually appear in clusters. The best-known epileptic syndrome associated with the appearance of grouped spasms is West's syndrome. They may also appear in other generalised epilepsies, epilepsies with periodic spasms or even seizures that are similar to grouped spasms in certain partial epilepsies. CASE REPORT: A 6-month-old girl with paroxysmal episodes of cluster spasms, for whom no pattern of hypsarrhythmia was observed in the electroencephalogram. The physical examination, neuroimaging and metabolic studies did not offer any pathological findings of interest. The psychomotor development of the patient prior to the onset of the seizures was normal. Following treatment with several different antiepileptic drug regimes, finally control over the seizures was accomplished with a combination of valproic acid and vigabatrine. CONCLUSIONS: There are cases like this, with cluster spasms, which fall within the age bracket at which West's syndrome typically occurs and which, nevertheless, do not present the electroencephalographic characteristics of hypsarrhythmia (neither typical nor atypical) or neuropsychological impairment. In these patients it is not clear whether we are dealing with a variant related with West's syndrome or not, since two of the three criteria required for its diagnosis are not fulfilled.

Mielitis transversa focal posvaricelosa tardía: a propósito de un caso. Revisión y puesta al día / Focal delayed post-chickenpox myelitis. Case report. A review and update

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Atrofia muscular espinal: revisión de nuestra casuística en los últimos 25 años / Infantile spinal atrophy: Our experience in the last 25 years

OBJETIVOS: Conocer la incidencia de la atrofia espinal infantil (AME) en nuestra población y estudiar la distribución genética y las características epidemiológicas y clínicas, el nivel de cuidados y su evolución. MATERIAL Y MÉTODO: Estudio descriptivo retrospectivo de los pacientes atendidos en nuestro hospital en los últimos 25 a˜nos (1987-2013), con diagnóstico clínico y neurofisiológico de AME. RESULTADOS: Se halló a 37 pacientes, lo que supone una incidencia aproximada de 1/10.000 recién nacidos vivos. Predominaba el sexo masculino (relación varón/mujer: 1,6/1). El tipo de AME diagnosticado más frecuentemente fue el tipo I (26 casos), seguido del tipo II (9 casos), un caso de AME tipo III, y otro caso de spinal muscular atrophy with respiratory distress type 1 (SMARD 1). La alteración genética más frecuente fue la deleción en homocigosis de exones 7 y 8 del gen SMN1, en 31 casos, mientras que 5 pacientes presentaban una genética atípica. La mediana de supervivencia para el tipo I fue de 8,0 meses y de 15,8 años para el tipo ii. CONCLUSIONES: La incidencia en nuestra población permanece estable en torno a 1/10.000. La mayoría de los casos presenta una genética típica con predominio de varones. En aproximadamente 1/10 pacientes la alteración genética fue diferente de la clásica. La prevalencia de AME no relacionadas con el gen SMN fue de 1/37. El nivel de cuidados se ha incrementado en los últimos años, en consonancia con las demandas sociales y asistenciales

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