Enfermedades raras con crisis epilépticas / Rare diseases with epileptic seizures

Las enfermedades raras (ER) con epilepsia son un grupo heterogéneo de entidades en las que existe frecuentemente una causa genética. En una mayoría de casos, la epilepsia que aparece en estos pacientes puede encuadrarse dentro de las “Encefalopatías Epilépticas y del Desarrollo”, mostrando fenotipos clínicos en los que existe una interacción entre epilepsia a menudo refractaria con regresión y afectación del neurodesarrollo, en un contexto de síndromes epilépticos más o menos definidos. Las causas genéticas subyacentes hoy en día pueden identificarse con precisión en muchos casos, permitiendo un acercamiento terapéutico precoz e individualizado en un contexto de Medicina de Precisión. Existen múltiples ejemplos pero es particularmente significativo el de la epilepsia ligada a SCN1A, incluyendo el síndrome de Dravet. En muchos casos la mutación específica permite delinear la historia natural futura, por lo que puede ofrecerse una guía anticipatoria exhaustiva que cubre múltiples necesidades del paciente más allá del uso específico de fármacos.(AU)

Rare diseases with epilepsy are a heterogeneous group of entities in which there is frequently a genetic cause. In the majority of cases, the epilepsy that appears in these patients can be classified as “Developmental and Epileptical Encephalopathies”, showing clinical phenotypes in which there is an interaction between often refractory epilepsy with regression and impairment of neurodevelopment, in a context of epileptic syndromes more or less defined. The underlying genetic causes can today be precisely identified in many cases, allowing an early and individualized therapeutic approach in a Precision Medicine context. There are multiple examples, but epilepsy linked to SCN1A is particularly significant, including Dravet syndrome. In many cases, the specific mutation allows the future natural history to be delineated, so comprehensive anticipatory guidance can be offered that covers multiple patient needs beyond the specific use of drugs.(AU)

Diagnóstico precoz de enfermedades neuromusculares potencialmente tratables: orientación clínica / Early diagnosis of potentially treatable neuromuscular diseases: clinical guidance

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Fenotipos conductuales: revisión de algunos síndromes no habituales / Behavioral phenotypes: review of some uncommon syndromes

INTRODUCCIÓN: Se denomina fenotipo conductual (FC) a la conducta y perfil cognitivo asociados de modo específico a un síndrome, habitualmente de origen genético. DESARROLLO: Numerosos síndromes clásicos muestran FC asociados bien conocidos en la bilbliografía, pero existen síndromes menos conocidos que presentan FC característicos. Los FC muestran habitualmente la presencia de discapacidad intelectual y/o trastorno de espectro autista, con adición de neuroconducta y déficits neuropsicológicos específicos. Existe un número creciente de diagnósticos de síndromes genéticos con patología de neurodesarrollo debido a la difusión de técnicas de estudio como los CGH-arrays y la secuenciación masiva. El estudio de genes críticos y mutaciones específicas para establecer el correlato genotipo-fenotipo conductual en cada síndrome puede ser complicado. Se revisan diversos síndromes con FC característicos poco citados en la bibliografía, con correlatos genotipo-fenotipo interesantes y paradigmáticos. CONCLUSIONES: El FC ha perdido parte del valor diagnóstico que tenía en la época previa a la difusión de las técnicas de diagnóstico genético, pero mantiene un importante valor dentro del pronóstico y manejo individualizado

INTRODUCTION: The behavior and cognitive profile specifically associated with a syndrome, usually of genetic origin, is called behavioral phenotype (BP). DEVELOPMENT: Many classic syndromes show wellknown associated BP in the bibliography, but there are less known syndromes that have characteristic BP. These BP usually show the presence of intellectual disability and/or autism spectrum disorder, with addition of neurobehavior and specific neuropsychological deficits. There is an increasing number of diagnoses of genetic syndromes with neurodevelopmental pathology due to the diffusion of study techniques such as arrays CGH and massive sequencing. The study of critical genes and specific mutations to establish the behavioral phenotype-genotype correlate in each syndrome can be complicated. We review various characteristic BP syndromes that are poorly cited in the bibliography, with interesting and paradigmatic genotype-phenotype correlates. CONCLUSIONS: BP has lost part of the diagnostic value that it had in the days prior to diffusion of genetic diagnostic techniques, but it maintains an important value within prognosis and individualized management

Visual Impairment Due to Lissencephaly.

Lissencephaly is a rare disorder due to abnormal neural migration, causing neurological impairment and clinically characterised by mental retardation and epilepsy. Any disturbance of the visual pathway can cause loss of vision. The authors describe a case of a 6-year-old boy referred to the ophthalmologist presenting poor bilateral vision. This child had no other known medical conditions, and neurological examination was completely normal. Only when a magnetic resonance imaging was made that a lissencephaly-pachygyria with band heterotopia mostly occipital was noted. Cortical defects should be considered in order to diagnosis some visual defects in children.

Evolución de la natalidad en España. Análisis de la tendencia de los nacimientos entre 1941 y 2010 / Birth rates evolution in Spain. Birth trends in Spain from 1941 to 2010

OBJETIVO: Analizar las tendencias de los nacimientos en España y sus comunidades autónomas (CC. AA.) en 70 años (1941-2010). MÉTODOS: Se calcularon las tasas brutas de natalidad por cada 1.000 personas/año por CC. AA. utilizando modelos de regresión de Joinpoint. Se identificaron los puntos de cambio en la tendencia así como sus porcentajes anuales de cambio (PAC). RESULTADOS: La distribución de los 38.160.305 nacimientos ocurridos en los 70 años transcurridos entre 1941 y 2010 representa cambios evolutivos de gran importancia, tanto a nivel nacional como entre las distintas comunidades. Existe un patrón general para el total nacional, en el que se identifican 5 puntos de inflexión, con cambios en la tendencia y en el PAC. Se identifican diferencias entre las CC. AA. CONCLUSIÓN: El análisis de las tendencias de la natalidad y los porcentajes anuales de cambio deberían permitir a las autoridades sanitarias planificar adecuadamente los recursos asistenciales pediátricos en nuestro país

OBJECTIVES: The aim of this study was to analyse trends of births in Spain and its Autonomous Communities (CCAA) over a 70 year period (1941-2010). METHODS: The crude birth rates per 1,000 inhabitants/year were calculated by CCAA using Joinpoint regression models. Change points in trend and annual percentage of change (APC) were identified. RESULTS: The distribution of 38,160,305 births between 1941 and 2010 shows important changes in trends both nationally and among the CCAA. There is a general pattern for the whole country, with 5 turning points being identified with changes in trend and annual percentage change (APC). Differences are also found among regions. CONCLUSION: The analysis of trends in birth rates and the annual rates of change should enable public health authorities to properly plan pediatric care resources in our country

[Birth rates evolution in Spain. Birth trends in Spain from 1941 to 2010]. / Evolución de la natalidad en España. Análisis de la tendencia de los nacimientos entre 1941 y 2010.

OBJECTIVES: The aim of this study was to analyse trends of births in Spain and its Autonomous Communities (CCAA) over a 70 year period (1941-2010). METHODS: The crude birth rates per 1,000 inhabitants/year were calculated by CCAA using Joinpoint regression models. Change points in trend and annual percentage of change (APC) were identified. RESULTS: The distribution of 38,160,305 births between 1941 and 2010 shows important changes in trends both nationally and among the CCAA. There is a general pattern for the whole country, with 5 turning points being identified with changes in trend and annual percentage change (APC). Differences are also found among regions. CONCLUSION: The analysis of trends in birth rates and the annual rates of change should enable public health authorities to properly plan pediatric care resources in our country.

[Idiopathic generalized epilepsies with absence seizures with valproic acid treatment: neuropsychological disorders]. / Epilepsia generalizada idiopatica con ausencias tipicas tratada con acido valproico: alteraciones neuropsicologicas.

AIM: To analyze the neuropsychological profile of children with absence seizures treated with valproate. SUBJECTS AND METHODS: Sample of 34 children from 7 to 12 years with absence seizures treated with valproate (median dose: 30 mg/kg/day) and 28 controls. We get the neuropsychological profile by applying the Wechsler Intelligence Scale for Children-Revised (WISC-R) and Luria-DNI Battery. RESULTS: Children with absence seizures manifest verbal IQ significantly lower (p < 0.05) than the control group but within normal. The neuropsychological profile Luria-DNI is significantly lower (p < 0.05) than the control group in all areas except in regulation verbal, kinesthetic, visual perception, comprehension and understanding simple grammar. This is a serious deterioration profile in the areas of logical memory, short-term memory, arithmetic, numerical structure, reading, writing, naming, and articulation. Children with absence seizures have a significant memory deficit. Memory profile measured with the Luria-DNI Battery and the WISC-R appears generally deteriorated when compared with the control group (p < 0.001) although there is a paradoxical preservation of shape memory. The short-term auditory and visual memory and logical memory are particularly affected. In the epileptic group, the attentional profile (estimated by the 'third factor of the WISC-R') is generally deteriorated when compared with the control group. CONCLUSIONS: We consider in children with this diagnosis and treatment, the neuropsychological profile described to strengthen deficient neuropsychological and psychoeducational areas. Above, we claim the need, in the consultations of neuropediatrics, the neuropsychlogists to ensure the systematic analysis of neuropsychological and cognitive difficulties both at the time of the diagnosis and follow-up of epilepsy.

First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: case observations from the Hunter Outcome Survey (HOS).

Hunter syndrome (mucopolysaccharidosis type II [MPS II], OMIM309900) is a rare X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulphatase, resulting in accumulation of glycosaminoglycans (GAGs), multisystem organ failure and early death. Enzyme replacement therapy (ERT) with idursulfase is commercially available since 2007. Early access programs were established since 2005. However, limited information on the effects of ERT in young children is available to date. The aim of this analysis was therefore to determine the effects of ERT on patients younger than 5 years of age. We report data from six Spanish patients with confirmed Hunter syndrome who were younger than 5 years at the start of ERT, and had been treated with weekly intravenous infusions of idursulfase between 6 and 14 months. Baseline and treatment data were obtained from the Hunter Outcome Survey (HOS). HOS is an international database of MPS II patients on ERT or candidates to be treated, that collects data in a registry manner. HOS is supported by Shire Human Genetic Therapies, Inc. (Cambridge, MA, USA). At baseline, all patients showed neurological abnormalities, including ventriculomegaly, hydrocephaly, cerebral atrophy, perivascular changes and white matter lesions. Other signs and symptoms included thoracic deformity, otitis media, joint stiffness and hepatosplenomegaly, demonstrating that children under 5 years old can also be severely affected. ERT reduced urinary GAG levels, and reduced spleen (n = 2) and liver size (n = 1) after only 8 months. Height growth was maintained within the normal range during ERT. Joint mobility either stabilized or improved during ERT. In conclusion, this case series confirms the early onset of signs and symptoms of Hunter syndrome and provides the first evidence of ERT beneficial effects in patients less than 5 years of age. Similar efficacy and safety profiles to those seen in older children can be suggested, although further studies including a direct comparison with older patients would still be required.

Convulsiones benignas durante gastroenteritis leve por rotavirus / Benign convulsions with mild rotavirus gastroenteritis

Introducción. Las convulsiones benignas durante gastroenteritis leve (CBG) son una entidad poco diagnosticada en países occidentales, caracterizada por crisis ictales afebriles, a menudo más de una, en el transcurso de una infección gastrointestinal sin afectación hidroelectrolítica grave. El virus más comúnmente implicado es el rotavirus. Se trata de una entidad benigna a pesar de la agrupación de crisis, y no requiere habitualmente exploraciones complementarias ni tratamiento antiepiléptico mantenido. Pacientes y métodos. Se aportan siete casos de CBG por rotavirus en pacientes con edades comprendidas entre 6 y 27 meses. Resultados. Cuatro de los pacientes presentaron más de una crisis, y todas las convulsiones hipermotoras fueron generalizadas. La gastroenteritis por rotavirus fue leve y sólo en uno de los casos había motivado ingreso antes de la aparición de la crisis. En todos los casos en los que se realizó punción lumbar o neuroimagen, éstas fueron normales. El electroencefalograma fue normal en todos los casos, excepto en un paciente con ondas agudas frontales, que desaparecieron en un control posterior. Ningún paciente ha mostrado recurrencia de crisis ni alteración en su desarrollo. Conclusiones. Las CBG por rotavirus estén posiblemente infradiagnosticadas y quizás clasificadas entre otras entidades como crisis febriles atípicas, estatus febriles o epilepsias parciales benignas de infancia temprana. Debe tenerse en cuenta la existencia de esta entidad de curso benigno para un correcto manejo y pronóstico (AU)

Introduction. Benign convulsions with mild gastroenteritis (CwG) are a rare diagnosis in Western countries, and it is characterized by afebrile seizures, almost times more than once, during a gastroenteritis without severe hydroelectrolitic affection. The most frequent implied virus is rotavirus. This is a benign disease, in spite of cluster seizures, and neither complementary explorations nor antiepileptic treatment is required. Patients and methods. Seven cases between 6 and 27 months aged of CwG due to rotavirus are reported. Results. Four patients had more than one seizure, and all convulsions were generalized hypermotor type. Rotavirus gastroenteritis was mild in all cases; only one patient was admitted for hospitalizationbefore seizures appearance. There were no findings in all cases with lumbar punction or brain neuroimaging. Electroencephalogram was normal in all cases, except in one patient who showed frontal acute waves, which disappeared in a later examination. No patients have shown seizure recurrence or development delay. Conclusions. CwG due to rotavirus are possibly infradiagnosed, and perhaps classified as atypical febrile seizures, febrile status or early infancy benign partial epilepsy. This benign diagnosis should be considered for a correct management and prognosis (AU)

[Benign convulsions with mild rotavirus gastroenteritis]. / Convulsiones benignas durante gastroenteritis leve por rotavirus.

INTRODUCTION: Benign convulsions with mild gastroenteritis (CwG) are a rare diagnosis in Western countries, and it is characterized by afebrile seizures, almost times more than once, during a gastroenteritis without severe hydroelectrolitic affection. The most frequent implied virus is rotavirus. This is a benign disease, in spite of cluster seizures, and neither complementary explorations nor antiepileptic treatment is required. PATIENTS AND METHODS: Seven cases between 6 and 27 months aged of CwG due to rotavirus are reported. RESULTS: Four patients had more than one seizure, and all convulsions were generalized hypermotor type. Rotavirus gastroenteritis was mild in all cases; only one patient was admitted for hospitalization before seizures appearance. There were no findings in all cases with lumbar punction or brain neuroimaging. Electroencephalogram was normal in all cases, except in one patient who showed frontal acute waves, which disappeared in a later examination. No patients have shown seizure recurrence or development delay. CONCLUSIONS: CwG due to rotavirus are possibly infradiagnosed, and perhaps classified as atypical febrile seizures, febrile status or early infancy benign partial epilepsy. This benign diagnosis should be considered for a correct management and prognosis.

[Estimation of the prevalence of cerebral palsy in the Autonomous Community of Castilla y León (Spain) using a disabilities register]. / Estimación de la prevalencia de parálisis cerebral en la comunidad de Castilla y León mediante el registro de minusvalías.

INTRODUCTION: The prevalence of cerebral palsy in Western countries is estimated to be around 2 cases/1,000 inhabitants. The objective of this study was to estimate the prevalence of cerebral palsy in the Autonomous Community of Castilla y León and to assess potential differences among the nine provinces of this region. PATIENTS AND METHODS: The number of patients with CP in 1999, separated by provinces and by age groups, was obtained from the Community Sectorial Program for Persons with Disabilities. These data originally came from handicap evaluations carried out in each base center. Prevalences were calculated using population data from the National Institute of Statistics. RESULTS: A total of 335 patients aged 0-13 years were registered as having a diagnosis of cerebral palsy in 1999. The prevalence of cerebral palsy was 1.05 cases/1,000 inhabitants aged 0-13 years. Statistically significant differences were found in the prevalence of cerebral palsy among provinces (p < 0.0001). The highest prevalence was found in Salamanca, with 1.87 cases/1,000 inhabitants, while the lowest prevalence was found in Segovia, with 0.33 cases/ 1,000 inhabitants. CONCLUSIONS: The prevalence of cerebral palsy in childhood in Castilla y León was lower than that reported in western countries. Substantial differences were found among provinces. The prevalence of cerebral palsy is probably underreported in some provinces. These differences could be due to a disparity in diagnostic criteria, especially in young children.

Estimación de la prevalencia de parálisis cerebral en la comunidad de Castilla y León mediante el registro de minusvalías / Estimation of the prevalence of cerebral palsy in the Autonomous Community of Castilla y León (Spain) using a disabilities register

Introducción La prevalencia de parálisis cerebral en países occidentales se estima en torno a 2 casos/1.000 habitantes. El objetivo de este estudio es estimar la prevalencia de parálisis cerebral en Castilla y León, y sus posibles diferencias entre las nueve provincias de la comunidad autónoma. Pacientes y métodos Se obtuvo el número de casos de parálisis cerebral en el año 1999, por provincia, y estratificados por grupos de edad, provenientes del Plan Regional Sectorial de Atención a las Personas con Discapacidad. Estos datos proceden originalmente de las evaluaciones para el reconocimiento de minusvalía realizadas en cada centro base correspondiente. Se calcularon las prevalencias con los datos de población provenientes del Instituto Nacional de Estadística. Resultados Existían 335 pacientes de 0 a 14 años registrados con diagnóstico de parálisis cerebral en el año 1999. La prevalencia de parálisis cerebral en ese grupo de edad fue de 1,05 casos/1.000 habitantes. Existen diferencias estadísticamente significativas en la cuantía de las prevalencias entre provincias (p < 0,0001). La que tenía mayor prevalencia fue Salamanca, con 1,87 casos/1.000 habitantes, mientras que Segovia, con 0,33, fue la de menor prevalencia registrada. Conclusiones La prevalencia en edad pediátrica de parálisis cerebral en Castilla y León, muestra una cifra inferior a las referidas en países occidentales. Existen importantes diferencias entre provincias. Es probable que los datos infravaloren la prevalencia de parálisis cerebral, en particular, en ciertas provincias. La disparidad de los criterios diagnósticos puede ser fuente de estas diferencias, sobre todo en edades tempranas

Introduction The prevalence of cerebral palsy in Western countries is estimated to be around 2 cases/1,000 inhabitants. The objective of this study was to estimate the prevalence of cerebral palsy in the Autonomous Community of Castilla y León and to assess potential differences among the nine provinces of this region. Patients and methods The number of patients with CP in 1999, separated by provinces and by age groups, was obtained from the Community Sectorial Program for Persons with Disabilities. These data originally came from handicap evaluations carried out in each base center. Prevalences were calculated using population data from the National Institute of Statistics. Results A total of 335 patients aged 0-13 years were registered as having a diagnosis of cerebral palsy in 1999. The prevalence of cerebral palsy was 1.05 cases/1,000 inhabitants aged 0-13 years. Statistically significant differences were found in the prevalence of cerebral palsy among provinces (p < 0.0001). The highest prevalence was found in Salamanca, with 1.87 cases/1,000 inhabitants, while the lowest prevalence was found in Segovia, with 0.33 cases/ 1,000 inhabitants. Conclusions The prevalence of cerebral palsy in childhood in Castilla y León was lower than that reported in western countries. Substantial differences were found among provinces. The prevalence of cerebral palsy is probably underreported in some provinces. These differences could be due to a disparity in diagnostic criteria, especially in young children

[Echogenic material in fetal gallbladder: prenatal diagnosis and postnatal follow-up]. / Material ecogénico en vesícula biliar fetal: diagnóstico prenatal y seguimiento posnatal.

OBJECTIVE: To study the prevalence of echogenic material in fetal gallbladder and to analyze its pathological relevance, the perinatal factors involved and the postnatal outcome of detected cases. PATIENTS AND METHODS: We performed a prospective study of ultrasonographic examination of 9235 fetuses in the third trimester of gestation. Perinatal data were collected. Postnatal ultrasonography was performed in identified cases. RESULTS: Fetal biliary echogenic material was found in 0.45 % of all pregnancies, with 42 identified fetuses. A single echogenic image was found in four fetuses (9 %), two or more echogenic images were found in seven fetuses (17 %) and biliary sludge was found in 31 fetuses (74 %). All diagnoses were made between weeks 29 and 38 of gestation. No link was found with maternal factors or perinatal abnormalities. Postnatal follow-up was carried out in 39 neonates; of these, five neonates (13 %) showed biliary sludge, although all five were asymptomatic. In further follow-up examinations, ultrasound studies were normal. CONCLUSIONS: Fetal biliary echogenic material was found in one out of every 200 fetuses. No relationship was found with perinatal abnormalities. The prognosis of fetal gallstones and biliary sludge is favorable.

Material ecogénico en vesícula biliar fetal: diagnóstico prenatal y seguimiento posnatal / Echogenic material in fetal gallbladder: prenatal diagnosis and postnatal follow-up

Objetivo: Estudiar la prevalencia de la detección de material ecogénico biliar fetal, y analizar su significado patológico, factores perinatales relacionados y evolución posnatal de los casos detectados. Pacientes y métodos: Se realizó un estudio prospectivo ecográfico en 9.235 fetos durante el tercer trimestre de gestación. Se recogieron diversos datos perinatales en los casos detectados, y se realizó ecografía posnatal. Resultados: Se encontró material ecogénico biliar fetal en el 0,45 por ciento de todas las gestaciones, con 42 fetos identificados. Una imagen ecogénica única se detectó en 4 casos (9 por ciento); dos o más imágenes ecogénicas se encontraron en 7 pacientes (17 por ciento) y se halló barro biliar en 31 casos (74 por ciento). Todos los diagnósticos se realizaron entre las semanas 29 y 38 de gestación. No se mostró relación con los factores maternos o la patología perinatal. Se sometieron a seguimiento posnatal 39 recién nacidos. En cinco de ellos (13 por ciento) se encontró barro biliar, aunque todos se mostraban asintomáticos. Este hallazgo desapareció en controles posteriores. Conclusiones: Uno de cada 200 fetos muestra material ecogénico biliar fetal. No parece haber relación con enfermedades perinatales. El pronóstico de esta entidad es favorable (AU)

Estudio de la demanda de asistencia pediátrica en el servicio de urgencias de un hospital general de segundo nivel / Study of pediatric care demand in the emergency service of a general second level hospital

Objetivo: Analizar las características de la demanda de asistencia de pacientes en edad pediátrica del Servicio de Urgencias del Hospital Río Carrión (Palencia). Pacientes y métodos: Estudio retrospectivo de las demandas de asistencia urgente de pacientes menores de 14 años en el citado centro hospitalario durante un año (1999). Se recogieron datos referidos al paciente y la atención médica recibida.Resultados: 5.489 pacientes demandaron asistencia durante 1999 (15,0 niños/día). 55,7 por ciento fueron varones. Diciembre y julio fueron los meses con mayor número de visitas. Los días festivos y los lunes fueron los días con mayor presión. Entre las 20:00 y las 22:00 h existió un incremento en la demanda. El motivo de consulta más frecuente fueron los traumatismos (32,4 por ciento), seguido de la fiebre (17,7 por ciento). Respecto la distribución general por sexos, solo la consulta por dificultad respiratoria mostró diferencias significativas (66,9 por ciento varones; p < 0,005). 37 por ciento de las consultas fueron de niños menores de 24 meses. 55,9 por ciento de los pacientes provenían de ámbito urbano. 57,6 por ciento no consultaron previamente en Atención Primaria (AP). Existe un predominio de traumatismos entre 12-13 años (p < 0,0001) y en ámbito rural (p < 0,001). Tras análisis de regresión logística, se evidenció que los pacientes de ámbito rural, los no traumáticos, los que consultaron previamente en AP y los pacientes con dificultad respiratoria presentan mayor riesgo de ingreso. Conclusiones: Predominan las consultas de menores de 4 años, de ámbito urbano, sin consulta previa en AP. Existen más consultas de varones, pero no es achacable a patología traumática (AU)

Enfermedad de Wolman en dos hermanos / Wolman disease in two brothers

La enfermedad de Wolman (EW) es un raro trastorno metabólico por déficit de la lipasa ácida lisosomal. La evolución es fatal en el primer año de vida. Se presentan los casos de dos hermanos (con otros dos hermanos sanos entre ellos) hijos de padres consanguíneos. Ambos presentaron vómitos y estancamiento ponderal en la segunda semana de vida, así como hepatosplenomegalia y anemia progresivas. La tomografia computarizada mostró calcificaciones suprarrenales en el segundo paciente, pero no en el primero. La biopsia hepática del primer caso fue sugerente de EW. En el segundo se realizaron estudios de actividad enzimática que confirmaron el diagnóstico. Los pacientes fallecieron, en los primeros tres meses de vida (AU)

Hemorragia intraventricular neonatal pordéficit de factor V / Intraventricular hemorrhage in a newborn due to factor V deficiency

El déficit congénito de factor V es una rara coagulopatía autosómica recesiva cuya sintomatología suele aparecer tras el período neonatal. Se describe el caso de un neonato sin antecedentes patológicos obstétricos que presentó hemorragia intraventricular espontánea. El estudio de coagulación se encontraba alterado, encontrándose déficit grave de factor V. El estado de heterozigosis en padres se demostró al hallar concentraciones medias de factor V en ambos (AU)

[Intraventricular hemorrhage in a newborn caused by factor V deficiency]. / Hemorragia intraventricular neonatal por déficit de factor V.

Congenital factor V deficiency is an unusual recessive autosomal coagulopathy. Symptoms usually appear after the neonatal period. We report the case of a newborn infant with no obstetric antecedents who presented spontaneous intraventricular hemorrhage. Coagulation studies showed alterations, and we found severe factor V deficiency. Heterozygosity of the parents was revealed by reduced factor V levels in both.