RESUMEN
INTRODUCTION: Attention deficit hyperactivity disorder (ADHD) is one of the most prevalent neurodevelopmental disorders. Other neurodevelopmental disorders may appear as a comorbidity or mimicking ADHD itself. DEVELOPMENT: This study reviews the high prevalence of other neurodevelopmental disorders (specific learning difficulties, communication disorders, etc.) in patients with ADHD. Moreover, the possible differential diagnoses include the same neurodevelopmental disorders that can occur as a comorbidity. Based on the literature, the study evaluates the role of clinical evaluation and neuropsychology in distinguishing between comorbidity and mimicry. CONCLUSIONS: The clinical evaluation could be insufficient for the comorbid diagnosis of neurodevelopmental disorders. In these cases, a neuropsychological evaluation is generally required, since it can also offer alternative diagnostic hypotheses about the symptoms observed and may therefore be a valuable aid for the differential diagnosis.
TITLE: Neurodesarrollo y fenocopias del trastorno por deficit de atencion/hiperactividad: diagnostico diferencial.Introduccion. El trastorno por deficit de atencion/hiperactividad (TDAH) es uno de los trastornos del neurodesarrollo mas prevalentes. Otros trastornos del neurodesarrollo pueden aparecer de forma comorbida o mimetizar el propio TDAH. Desarrollo. Se revisa la elevada prevalencia de otros trastornos del neurodesarrollo (trastornos especificos del aprendizaje, trastornos de la comunicacion...) en los pacientes con TDAH. Por otro lado, entre los posibles diagnosticos diferenciales se situan los mismos trastornos del neurodesarrollo que pueden aparecer de forma comorbida. Se valorara, de acuerdo a la bibliografia, el papel de la valoracion clinica y la neuropsicologia en la distincion entre comorbilidad y mimetismo. Conclusiones. La valoracion clinica podria ser insuficiente para el diagnostico comorbido de los trastornos del neurodesarrollo. En estos casos, la valoracion neuropsicologica es generalmente necesaria; esta puede igualmente ofrecer hipotesis diagnosticas alternativas de la sintomatologia observada y, por tanto, ser util para el diagnostico diferencial.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastornos del Neurodesarrollo/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Comorbilidad , Diagnóstico Diferencial , Humanos , Trastornos del Neurodesarrollo/epidemiología , Examen Neurológico , Pruebas Neuropsicológicas , Fenotipo , Prevalencia , Evaluación de SíntomasRESUMEN
INTRODUCTION: Neurodevelopmental disorders cover a heterogeneous group of disorders such as intellectual disability, autism spectrum disorders or specific learning difficulties, among others. The neurobiological and clinical variables seem to clearly justify the recent inclusion of attention deficit hyperactivity disorder (ADHD) as a neurodevelopmental disorder in the international classifications. DEVELOPMENT: Neurodevelopmental disorders are characterised by their dimensional nature and the distribution of the different symptoms in the population. These aspects are reviewed, specifically from the perspective of the clinical features and the neuropsychology of ADHD. The dimensional symptomatic nature of ADHD contrasts with the diagnostic criteria of this disorder according to different classifications or clinical guidelines. It also contrasts with the data collected by means of different complementary examinations (scales, tests, etc.). CONCLUSIONS: It is essential to understand the clinical continuum within each neurodevelopmental disorder (including ADHD), among the different neurodevelopmental disorders, and among the neurodevelopmental disorders and normality for their research, diagnosis and management. The development of instruments that provide support for this dimensional component is equally significant.
TITLE: Trastorno por deficit de atencion/hiperactividad: perspectiva desde el neurodesarrollo.Introduccion. Los trastornos del neurodesarrollo engloban a un grupo heterogeneo de trastornos como la discapacidad intelectual, el trastorno del espectro autista o los trastornos especificos del aprendizaje, entre otros. La reciente inclusion en las clasificaciones internacionales del trastorno por deficit de atencion/hiperactividad (TDAH) dentro de los trastornos del neurodesarrollo parece claramente justificada atendiendo a variables neurobiologicas y clinicas. Desarrollo. El caracter dimensional y la distribucion de diferentes sintomas en la poblacion caracterizan a la mayoria de los trastornos del neurodesarrollo. Se revisan estos aspectos, particularmente desde la sintomatologia y neuropsicologia en el TDAH. El caracter sintomatico dimensional del TDAH contrasta con los criterios diagnosticos de este trastorno de acuerdo a diferentes clasificaciones o guias clinicas. Contrasta igualmente con los datos recogidos a traves de diferentes exploraciones complementarias (escalas, tests...). Conclusiones. El entendimiento del continuo clinico dentro de cada trastorno del neurodesarrollo (incluido el TDAH), entre los diferentes trastornos del neurodesarrollo, y entre los trastornos del neurodesarrollo y la normalidad, es esencial para la investigacion, el diagnostico y el abordaje de todos ellos. El desarrollo de instrumentos que avalen este componente dimensional es igualmente trascendental.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Trastornos del Neurodesarrollo , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Niño , HumanosRESUMEN
INTRODUCTION: Attention deficit hyperactivity disorder (ADHD) is one of the most frequent neurodevelopmental disorders in the child population. Its treatment is complex and must include psychoeducational, environmental and pharmacological measures. In recent years, the main novelties as regards its pharmacological treatment have been the appearance of lisdexamphetamine and extended-release guanfacine. AIMS: The increase in the number of drugs available for the treatment of ADHD makes it possible to treat and cover a very wide range of different clinical situations. The purpose of this review is to perform an analysis of the literature on the two drugs. DEVELOPMENT: The study determines the strong points of both treatments, with special attention given to their mechanism of action, their tolerability and their efficacy. CONCLUSIONS: Extended-release guanfacine enables the professional to treat situations that are poorly covered by stimulants, such as children with irritability and tics, with a significant profile characterised by moderate efficacy and good tolerability and safety. The appearance of lisdexamphetamine has brought about a very important change because, according to the literature, it is a drug that, from the clinical point of view, is both complete and effective in improving the symptoms of ADHD. Moreover, it has a good safety profile.
TITLE: Actualizacion en el tratamiento farmacologico del trastorno por deficit de atencion/hiperactividad: lisdexanfetamina y guanfacina de liberacion retardada.Introduccion. El trastorno por deficit de atencion/hiperactividad (TDAH) es uno de los trastornos del neurodesarrollo mas frecuentes en la poblacion infantil. Su tratamiento es complejo y debe incluir medidas psicoeducativas, ambientales y farmacologicas. En los ultimos años, las principales novedades respecto a su tratamiento farmacologico son la aparicion de la lisdexanfetamina y la guanfacina de liberacion retardada. Objetivo. El aumento del numero de farmacos disponibles para el tratamiento del TDAH permite tratar y cubrir situaciones clinicas muy diversas. El proposito de la presente revision es realizar un analisis de la bibliografia sobre ambos farmacos. Desarrollo. Se establecen los puntos fuertes de ambos tratamientos, atendiendo especialmente a su mecanismo de accion, a su tolerabilidad y a su eficacia. Conclusiones. La guanfacina de liberacion retardada permite tratar situaciones escasamente cubiertas con los estimulantes, tales como los niños con irritabilidad y tics, con un perfil significativo de moderada eficacia y una buena tolerabilidad y seguridad. La aparicion de la lisdexanfetamina ha supuesto un cambio muy importante porque, segun la bibliografia, se trataria de un farmaco completo y efectivo, desde el punto de vista clinico, para mejorar los sintomas del TDAH. Ademas, posee un buen perfil de seguridad.
Asunto(s)
Agonistas de Receptores Adrenérgicos alfa 2/uso terapéutico , Trastorno por Déficit de Atención con Hiperactividad/tratamiento farmacológico , Estimulantes del Sistema Nervioso Central/uso terapéutico , Guanfacina/uso terapéutico , Dimesilato de Lisdexanfetamina/uso terapéutico , Preparaciones de Acción Retardada , HumanosRESUMEN
INTRODUCTION: The development of structural magnetic resonance scanning and new methods of analysis has made it possible to explore, in a hitherto unknown way, the neuroanatomical bases of attention deficit hyperactivity disorder (ADHD). Yet, little is known about the relation between the clinical symptoms and the neuropsychological dysfunctions characterising ADHD and the neuroanatomical alterations that are observed. AIM: To explore the relation between neuroanatomy, clinical features and neuropsychology in ADHD. DEVELOPMENT: At group level, there are a number of marked differences between the brain of children, adolescents and adults with ADHD and the brain of subjects with a typical development. These differences are observed cross-sectionally and longitudinally in all the measurements, both in the grey matter and in the white matter. Although still scarce, there is an increasing body of evidence showing that these differences are related with the core symptoms of the disorder and with the degree of clinical dysfunction. They also appear to be associated with cognitive functioning (mainly attention and inhibitory control). CONCLUSIONS: The relation among the different levels of analysis in the study of ADHD bring research closer to the clinical features and allows a better understanding and management of the disorder. Although progress is undoubtedly being made in this field, there are still many questions that need exploring in greater depth. There is a need for a better understanding of the association between the neuroanatomical measurements and each dimension of the symptoms, and their relationship with other neuropsychological processes that are also involved in the disorder.
TITLE: Neuroanatomia del trastorno por deficit de atencion/hiperactividad: correlatos neuropsicologicos y clinicos.Introduccion. El desarrollo de la resonancia magnetica estructural y de nuevos metodos de analisis ha permitido examinar, como nunca antes, las bases neuroanatomicas del trastorno por deficit de atencion/hiperactividad (TDAH). No obstante, poco se sabe todavia sobre la relacion de los sintomas clinicos y las disfunciones neuropsicologicas caracteristicas del TDAH con las alteraciones neuroanatomicas observadas. Objetivo. Explorar la relacion entre neuroanatomia, clinica y neuropsicologia en el TDAH. Desarrollo. A nivel de grupo, existen diferencias marcadas entre el cerebro de niños adolescentes y adultos con TDAH y el cerebro de personas con desarrollo tipico. Estas diferencias se observan transversal y longitudinalmente en todas las medidas, tanto de la sustancia gris como de la sustancia blanca. Aunque todavia escasa, cada vez existe mayor evidencia que señala que estas diferencias se relacionan con los sintomas nucleares del trastorno y con el grado de disfuncion clinica. Tambien parecen asociarse con el funcionamiento cognitivo (principalmente, atencion y control inhibitorio). Conclusiones. La relacion entre los distintos niveles de analisis de estudio del TDAH acerca la investigacion a la clinica y permite comprender y tratar mejor el trastorno. Aunque el avance en este campo es innegable, todavia son muchas las cuestiones que hay que explorar y profundizar en mayor detalle. Se requiere comprender mejor la asociacion entre las medidas neuroanatomicas y cada dimension sintomatologica, y la relacion con otros procesos neuropsicologicos tambien implicados en el trastorno.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/patología , Encéfalo/diagnóstico por imagen , Neuroanatomía , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico por imagen , Encéfalo/patología , Humanos , Imagen por Resonancia Magnética , Pruebas Neuropsicológicas , Sustancia Blanca/diagnóstico por imagen , Sustancia Blanca/patologíaRESUMEN
Attention deficit hyperactivity disorder (ADHD) is a heterogeneous, symptomatically complex disorder. Its cardinal symptom, the presence of dysexecutive problems, emotional dysregulation of many of them and its own comorbidity, among others, will condition its clinical expression and the dysfunction. Classifying ADHD as a 'disorder' calls for an accurate assessment of the terms 'dysfunction' or 'repercussion'. The progress made in the classification and quantification of the symptoms characterising ADHD should be applied to measuring and objectifying dysfunction. Considering dysfunction as a simple interference, however clear it may be, could lead to an overestimation of the diagnosis of this disorder. Just as its estimation is essential for a diagnosis, it is also necessary for the correct evaluation of the efficacy of the therapeutic interventions, especially in the medium and long term. Further studies are needed in this sense to appraise the efficacy of the treatments, whether pharmacological or not, in different domains (social relationship, learning, self-esteem, quality of life, accidents, etc.).
TITLE: Disfuncion en el trastorno por deficit de atencion/hiperactividad: evaluacion y respuesta al tratamiento.El trastorno por deficit de atencion/hiperactividad (TDAH) es un trastorno heterogeneo y complejo sintomaticamente. Su sintomatologia cardinal, la presencia de problemas disejecutivos, la desregulacion emocional de muchos de ellos y la propia comorbilidad, entre otros, condicionaran su expresion clinica y la disfuncion. La tipificacion del TDAH como 'trastorno' requiere una evaluacion precisa del termino 'disfuncion' o 'repercusion'. Los avances en la tipificacion y cuantificacion de la sintomatologia caracteristica del TDAH deberian trasladarse a la medicion y objetivacion de la disfuncion. La estimacion de la disfuncion como una simple interferencia, por clara que sea, podria llevar a una sobreestimacion del diagnostico de este trastorno. Del mismo modo que es ineludible su estimacion para el diagnostico, es igualmente necesaria para la correcta evaluacion de la eficacia de las intervenciones terapeuticas, especialmente a medio y largo plazo. Son necesarios estudios adicionales en este sentido para valorar la eficacia de los tratamientos, sean farmacologicos o no, en diferentes dominios (relacion social, aprendizaje, autoestima, calidad de vida, siniestralidad ).
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/terapia , Trastorno por Déficit de Atención con Hiperactividad/fisiopatología , Niño , Humanos , Resultado del TratamientoRESUMEN
We present the case of a nine-year-old boy with Tourette syndrome and reading disorder with a history of a severe infectious process in the late neonatal period. Brain MRI showed a left parietal malacotic cavity and diffusion tensor imaging and tractography showed a striking disruption of the white matter bundle that joins the left parietal region with the ipsilateral frontal region with involvement of the left superior longitudinal fasciculus and of the left arcuate fasciculus. Although Tourette syndrome and reading disorder are fundamentally hereditary neuropsychiatric disorders, they can also occur secondary to cerebral alterations like those existing in this boy. The introduction of modern neuroimaging techniques in patients with neuropsychiatric disorders (or the risk of developing them) can be very useful in the diagnosis and prognosis in the future.
Asunto(s)
Anomalías Múltiples , Dislexia/complicaciones , Lóbulo Frontal/anomalías , Lóbulo Parietal/anomalías , Síndrome de Tourette/complicaciones , Anomalías Múltiples/diagnóstico , Niño , Dislexia/diagnóstico , Humanos , Masculino , Síndrome de Tourette/diagnósticoRESUMEN
The neurocutaneous syndrome known by the acronym PHACE consists of the association of a segmental facial hemangioma with, among other entities, posterior fossa anomalies, cerebrovascular anomalies, cardiac involvement/aortic coarctation, and eye abnormalities. When ventral developmental defects are also present, the syndrome is referred to as PHACES. We report the prenatal and postnatal MRI findings in a case of PHACES with involvement of the right posteroinferior cerebellar artery. This case is exceptional because, to our knowledge, it is the first to report the findings at both prenatal and postnatal MRI and because of the unique vascular anomaly that widens the spectrum of possible intracranial arterial anomalies in this syndrome.
Asunto(s)
Coartación Aórtica/diagnóstico , Anomalías del Ojo/diagnóstico , Imagen por Resonancia Magnética , Síndromes Neurocutáneos/diagnóstico , Adulto , Femenino , Humanos , Recién Nacido , Embarazo , Diagnóstico PrenatalRESUMEN
INTRODUCTION: Advances in neuroimaging in the last decade have allowed a number of new findings about attention deficit hyperactivity disorder (ADHD) to be obtained. Quickly developing technology, together with the progress being made in genetics and neurochemical research, suggests a dysfunction of the fronto striatal circuit that involves the prefrontal cortex and its relationship with the basal, thalamic and cerebellar nuclei as the pathophysiological foundation of this disorder. On the other hand, neuroimaging in the future may complement clinical evaluation, which will favour more accurate diagnoses and allow the subtypes and even the mode of treatment and its monitoring to be identified. AIMS AND DEVELOPMENT: The aim of this study was to review the more significant literature on neuroimaging and ADHD and to discuss the usefulness and drawbacks of the different modes of neuroimaging techniques that can be applied with a view to gaining an improved and deeper knowledge of ADHD in the future. CONCLUSIONS: Although the development of neuroimaging in ADHD is a promising area, at the present time its diagnostic value is very restricted. One of the greatest difficulties in this respect concerns the clinical, genetic and pathophysiological heterogeneity of the disorder. Hence, given the inexistence of a specific marker, future studies will have to search for several markers that have a suitable value in the diagnosis, prognosis and/or treatment of the different subtypes of ADHD.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Encéfalo , Diagnóstico por Imagen , Trastorno por Déficit de Atención con Hiperactividad/patología , Trastorno por Déficit de Atención con Hiperactividad/fisiopatología , Encéfalo/patología , Encéfalo/fisiopatología , Mapeo Encefálico , Humanos , Imagen por Resonancia Magnética , Tomografía de Emisión de Positrones , Tomografía Computarizada de Emisión de Fotón ÚnicoRESUMEN
INTRODUCTION: Methylphenidate (MTF) is effective for the treatment of attention deficit/hiperactivity disorder (ADHD). Osmotic-release MTF (MTF-O) allows a sustained effect along the day on attention and behaviour in patient with ADHD with a single dose. AIM: To confirm the sustained effectiveness of the MTF-O from the clinical point of view, in the family circle: PATIENTS AND METHODS: Study of 266 patients with ADHD. They were aged between 5 and 17 years. Distribution for sex 3/1 (boys/girls). Treatment with MTF-O was added and retired in two successive weekends, alternating the days. During these four days the following scales were filled at different hours: quantified criteria of DSM-IV-TR, modified ICG-M, and translated and modified Depremb-R. RESULTS: The following finds were observed under treatment: a statistically significant decrease in inattention, hyperactivity and impulsiveness (p < 0.01); a clinical improvement when getting up and going to bed by means of Depremb-R scale (p < 0.01); a reduction of the symptomatic intensity in the criteria of DSM-IV-TR, in the morning and in the afternoon (p < 0.01); a global improvement in attention and behaviour when getting up, lunchtime, dinner, and before going to bed according to the modified ICG-M. CONCLUSION: MTF-O improves characteristic symptoms of ADHD from the first hours of the morning until the hour of going to bed according to family assessment.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/tratamiento farmacológico , Sistemas de Liberación de Medicamentos , Metilfenidato , Adolescente , Trastorno por Déficit de Atención con Hiperactividad/fisiopatología , Niño , Preescolar , Femenino , Humanos , Masculino , Metilfenidato/administración & dosificación , Metilfenidato/uso terapéutico , Ósmosis , Escalas de Valoración Psiquiátrica , Encuestas y Cuestionarios , Resultado del TratamientoRESUMEN
INTRODUCTION: Larsen syndrome is characterised by untreatable congenital dislocation of multiple body joints, along with marked foot deformities. These patients have a flattened face with a short nose, a broad depressed nasal bridge and a prominent forehead. In this clinical note our aim is to report two cases that coursed with spinal cord compromise. CASE REPORTS: Case 1: an 18-month-old female with congenital dislocation of knees and hips. The patient had a flat face, sunken root of nose, and carp mouth. Magnetic resonance imaging of the spine showed severe cervical kyphosis secondary to malformation and hypoplasia of the cervical vertebral bodies and important compression of the spinal cord. Clinically, there were also signs of upper motor neuron syndrome, which was especially prominent in the lower limbs. Case 2: a 14-year-old male with a characteristic face and dislocation of the head of the radius. The patient presented amyotrophy of the muscles in the right hand and clinical signs of lower motor neuron syndrome due to neuronal damage secondary to spinal malformations. CONCLUSIONS: Larsen syndrome is an infrequent osteochondrodysplasia. Alteration of the spine is common and may give rise to spinal cord compression with varying clinical repercussions which require surgical treatment in the early years of the patient's life.
Asunto(s)
Anomalías Múltiples/diagnóstico , Huesos Faciales/anomalías , Deformidades Congénitas del Pie/diagnóstico , Luxaciones Articulares/congénito , Compresión de la Médula Espinal/diagnóstico , Adolescente , Femenino , Humanos , Lactante , Masculino , SíndromeRESUMEN
INTRODUCTION AND DEVELOPMENT: Numerous trials have demonstrated the efficacy of stimulants on age-inappropriate levels of inattention, impulsivity and hyperactivity of patients with attention deficit/hyperactivity disorder (ADHD). Different externalizing (aggressive, conduct, oppositional) and internalizing (emotional) associated features can also get improved with stimulants. Effect of stimulant medication can be observed in different objective laboratory-neuropsychological test too, especially in Continuous Performance Tests (CPT). CPT have a good specificity and sensibility in diagnosis of ADHD although they are not diagnostic themselves. Errors of omissions and commissions are more frequent in ADHD patients than in controls. Responses to these tests improve under methylphenidate. General recommendations in ADHD treatment include systematic monitoring of medication effects from clinical point of view. CONCLUSIONS: CPT offer different advantages in this monitoring: good validity, objective measures and easy administration. Psychological measures, particularly CPT, can support clinical diagnosis and pharmacological monitoring in patients with ADHD.
Asunto(s)
Estimulantes del Sistema Nervioso Central/uso terapéutico , Trastornos del Conocimiento/tratamiento farmacológico , Metilfenidato/uso terapéutico , Niño , Trastornos del Conocimiento/diagnóstico , Humanos , Pruebas NeuropsicológicasRESUMEN
AIM: To report a new case of a little-known congenital myopathy. Cap myopathy is a rare congenital disease caused by an alteration in the structure of the fibre, with disorganised myofibrils at the edges. Since it was first described, only a few cases have been reported in the literature. CASE REPORT: We describe the case of a 16-year-old patient with a history of neonatal hypotonia and psychomotor retardation. At the age of 4 years, the patient presented myopathic facies with atrophied pectoral muscles, winged scapula and lumbar hyperlordosis. A myopathic pattern was observed in the electromyogram. A muscle biopsy showed a very marked predominance of type I fibres, atrophy in part of the population of this type and 20% of them had cap-shaped subsarcolemmal accumulations, which were intensely positive with DPNH and SDH; in the ultrastructural study they correspond to disorganised peripheral myofibrils with preservation of the Z band and the absence of A bands. These alterations are similar to those described in what is known as cap disease or cap myopathy. Today, the patient has mild proximal tetraparesis and moderate restrictive respiratory failure.
Asunto(s)
Fibras Musculares de Contracción Lenta/patología , Hipotonía Muscular/congénito , Músculo Esquelético/anomalías , Miofibrillas/ultraestructura , Anomalías Múltiples/genética , Progresión de la Enfermedad , Músculos Faciales/anomalías , Estudios de Seguimiento , Humanos , Recién Nacido , Discapacidad Intelectual/genética , Masculino , Fibras Musculares de Contracción Lenta/enzimología , Hipotonía Muscular/patología , Proteínas Musculares/análisis , Músculo Esquelético/embriología , Músculo Esquelético/enzimología , Músculo Esquelético/patología , Atrofia Muscular/patología , Cuadriplejía/etiología , Insuficiencia Respiratoria/etiología , Sarcolema/ultraestructura , Coloración y EtiquetadoRESUMEN
INTRODUCTION AND DEVELOPMENT: Asperger syndrome is a pervasive developmental disorder characterized by social impairments, restricted interests, and repetitive behaviours. It is not associated with delay in language development as others pervasive developmental disorders. Diagnosis should be made based on a complete clinical history and psychological assessment; specific diagnostic instruments are useful. CONCLUSION: Asperger syndrome has no cure, but clinical features and those secondary to comorbid conditions could improve with an early diagnosis and correct individualized interventions.
Asunto(s)
Síndrome de Asperger , Trastornos del Conocimiento/epidemiología , Trastornos del Lenguaje/epidemiología , Trastornos del Habla/epidemiología , Síndrome de Asperger/diagnóstico , Síndrome de Asperger/epidemiología , Síndrome de Asperger/terapia , Niño , Terapia Cognitivo-Conductual , Comorbilidad , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Humanos , Conducta Social , Percepción SocialRESUMEN
INTRODUCTION: Leukoencephalopathy with vanishing white matter is an autosomal recessive hereditary disease that was first reported in 1997. Some time later the genetic anomalies responsible for the disease were identified, these being different mutations in any of the five genes that code for the five subunits of the translation initiation factor, eIF2B. Since then, the clinical spectrum of this condition has proved to be much broader and far more frequent than was initially believed. We report on a case of the classical clinical form, which is to our knowledge the first to be published in Spain to date. CASE REPORT: A 5-year-old female who presented gait instability that recently got worse following a mild traumatic head injury. The examination revealed overall cerebellar ataxia and generalised spasticity. Magnetic resonance imaging (MRI) showed diffuse and symmetrical involvement of the white matter of the brain with the presence of cavities in which the signal intensity and the proton spectrum were similar to those of cerebrospinal fluid. The genetic study revealed a mutation of the gene that codes for eIF2B-epsilon. CONCLUSIONS: A suggestive MRI scan, even in an atypical presentation, would be enough to rule out a mutation of the genes that code for eIF2B. This would make it possible to reach an early diagnosis of this disease, which is probably more prevalent than is currently thought. This would allow genetic counselling to be conducted and would help to establish a genotype-phenotype correlate that would also make it possible to offer an estimated prognosis.
Asunto(s)
Encefalopatías/diagnóstico , Ataxia Cerebelosa/diagnóstico , Preescolar , Femenino , Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias/diagnóstico , HumanosRESUMEN
INTRODUCTION AND AIMS: Vascular malformations are the most frequent cause of intracranial haemorrhage (IH) after the neonatal period that are not due to traumatic injury. Arteriovenous malformations (AVM) are the vascular malformations that most often give rise to symptoms in infancy and are the most common cause of IH in children over one year of age. CASE REPORTS: We reviewed the medical records of all patients under the age of 16 years diagnosed with AVM from the year 2000 to the present. Four cases aged between 7 and 15 years were found, all of whom were examined with computerised tomography and/or magnetic resonance imaging and cerebral arteriography scans. One patient started with headaches and another had learning disabilities. The other two began with IH, the most common clinical manifestations of which were a diminished level of awareness and vomiting. The final diagnosis was established by means of arteriography in all cases. Surgical treatment was carried out in three cases (using surgery, catheter embolisation and stereotaxic radiosurgery) and the patients' progress following the intervention was excellent. CONCLUSIONS: Spontaneous haemorrhage constitutes the most common presenting symptom of AVM. However, there are sometimes earlier manifestations that are a challenge to diagnosis and which should be the target of future research, since preventing IH would lead to a drastic reduction in the morbidity and mortality rate of AVM.