ABSTRACT
Diversos estudios estiman que el retraso mental afecta a un 1-3 % de la población, y en cerca de un 50 % de los casos se desconoce la etiología. La incertidumbre sobre la etiología, y la recurrencia, hacen que la prevención del retraso mental presente graves repercusiones de tipo terapéutico, social e incluso económicas. La clave principal es lograr un diagnóstico preciso, probando una hipótesis clínica mediante la realización de las pruebas genéticas adecuadas. Debido al creciente desarrollo de la tecnología en el campo de la genética, y a la disponibilidad de nuevas pruebas, en este artículo se revisan e integran los criterios establecidos en las guías consensuadas de diferentes sociedades científicas (pediátricas, neurológicas y genéticas) respecto a su utilización en el diagnóstico del retraso mental y del retraso del desarrollo (AU)
Different studies show that mental retardation affects 1-3 % of the population, and in about 50 % of the cases the aetiology is unknown. The uncertainty on the aetiology, and recurrence, means that prevention of mental retardation can have serious, therapeutic, social, and even economic repercussions. The key is to obtain an accurate diagnosis, proving a clinical hypothesis by the accomplishment of the most suitable genetic tests. Due to the increasing development of the technology in the field of the genetics, and the availability of new tests, this article reviews the criteria established in the practice guidelines from different scientific societies (paediatric, neurological and genetic) with respect to their use in diagnosis and integrates them from the point of view of their use in mental retardation and developmental delay (AU)
Subject(s)
Humans , Male , Female , Child , Intellectual Disability/diagnosis , Intellectual Disability/genetics , Chromosome Aberrations , Diagnosis, Differential , Angelman Syndrome/genetics , Genetic Diseases, Inborn/complications , Genetic Diseases, Inborn/etiology , Genetic Techniques , Central Nervous System/physiopathology , X Chromosome/geneticsABSTRACT
Different studies show that mental retardation affects 1-3% of the population, and in about 50 % of the cases the aetiology is unknown. The uncertainty on the aetiology, and recurrence, means that prevention of mental retardation can have serious, therapeutic, social, and even economic repercussions. The key is to obtain an accurate diagnosis, proving a clinical hypothesis by the accomplishment of the most suitable genetic tests. Due to the increasing development of the technology in the field of the genetics, and the availability of new tests, this article reviews the criteria established in the practice guidelines from different scientific societies (paediatric, neurological and genetic) with respect to their use in diagnosis and integrates them from the point of view of their use in mental retardation and developmental delay.
Subject(s)
Developmental Disabilities/diagnosis , Developmental Disabilities/genetics , Intellectual Disability/diagnosis , Intellectual Disability/genetics , Algorithms , Child , Clinical Protocols , HumansABSTRACT
Perinatal arterial stroke is a significant cause of neurological deficit, including mental retardation, delayed motor development, epilepsy, and severe cognitive impairment. Most strokes occur in term neonates, due to thromboembolism from an intracranial or extracranial vessel associated with a risk factor such as asphyxia at birth and heart, hematological or infectious diseases. An association with instrumental delivery has not been clearly demonstrated, although several cases have been described in the literature. The incidence of stroke in the perinatal period is estimated to be 1/4000 term neonates per year. We describe three new cases of stroke in term neonates with instrumental delivery and describe the etiopathogenesis, diagnosis and outcome of this entity.
Subject(s)
Birth Injuries/complications , Stroke/etiology , Brain/pathology , Delivery, Obstetric/adverse effects , Humans , Infant, Newborn , Magnetic Resonance Imaging , Male , Obstetrical Forceps/adverse effects , Stroke/diagnosisABSTRACT
El infarto arterial perinatal representa una importante causa de déficit neurológicos que incluyen retraso mental, del desarrollo motor, epilepsia y defectos cognitivos graves. La mayoría de los infartos ocurren en recién nacidos a término, por un tromboembolismo desde un vaso intracraneal o extracraneal asociado a un factor de riesgo tal como asfixia al nacimiento, enfermedades cardíacas, hematológicas o infecciosas. La asociación con el parto instrumental no ha sido claramente demostrada, aunque existen casos descritos en la literatura especializada. La incidencia en el período perinatal se estima en uno de cada 4.000 recién nacidos a término y año. Se describen tres nuevos casos en recién nacidos a término con antecedentes de parto instrumental y se revisa la etiopatogenia, el diagnóstico y la evolución de esta entidad
Perinatal arterial stroke is a significant cause of neurological deficit, including mental retardation, delayed motor development, epilepsy, and severe cognitive impairment. Most strokes occur in term neonates, due to thromboembolism from an intracranial or extracranial vessel associated with a risk factor such as asphyxia at birth and heart, hematological or infectious diseases. An association with instrumental delivery has not been clearly demonstrated, although several cases have been described in the literature. The incidence of stroke in the perinatal period is estimated to be 1/4000 term neonates per year. We describe three new cases of stroke in term neonates with instrumental delivery and describe the etiopathogenesis, diagnosis and outcome of this entity
Subject(s)
Male , Infant, Newborn , Humans , Birth Injuries/complications , Stroke/etiology , Stroke/diagnosis , Delivery, Obstetric/adverse effects , Magnetic Resonance Imaging , Obstetrical Forceps/adverse effects , Telencephalon/pathologyABSTRACT
La mielitis transversa aguda es una enfermedad medular inflamatoria aguda caracterizada por disfunción aguda o subaguda motora, sensitiva y autonómica. La incidencia es baja, estimándose en 1-4 casos por 106 habitantes/año y en nuestro medio esta patología es excepcional, habiéndose comunicado la mayoría en pacientes inmunodeprimidos. Se describen dos nuevos casos en niños inmunocompetentes y se revisa la etiopatogenia, el diagnóstico y la evolución de esta entidad (AU)
Subject(s)
Male , Infant , Child, Preschool , Humans , Myelitis, Transverse , Medication Errors , Medication Errors , Acetaminophen , Immunocompetence , Drug Overdose , Analgesics, Non-Narcotic , AcetaminophenABSTRACT
Acute transverse myelitis is an acute inflammatory medullar disease characterized by acute or subacute motor, sensory and autonomic dysfunction. The incidence is low and is estimated at 1-4 cases/10(6) inhabitants per year. In Spain, the disorder is exceptional and most reported cases have occurred in immunodepressed patients. We describe two new cases of transverse myelitis in immunocompetent children and review the etiopathogenesis, diagnosis and outcome of this disorder.
Subject(s)
Myelitis, Transverse , Child, Preschool , Humans , Immunocompetence , Infant , Male , Myelitis, Transverse/diagnosis , Myelitis, Transverse/etiologyABSTRACT
CASE REPORT: A young patient with epilepsy and limbic encephalitis unrelated to neoplasm. RESULTS: The patient in a subacute fashion showed frequent partial seizures with neuropsychological deficits mainly in recent memory capability, with an no simultaneous affectation of both temporal lobe and adjacent structures. After 6 years there was no evidence of underlying malignancy.
Subject(s)
Epilepsy/physiopathology , Limbic Encephalitis/diagnosis , Limbic Encephalitis/pathology , Neoplasms , Adolescent , Adult , Brain/pathology , Female , Humans , Infant , Limbic Encephalitis/physiopathology , Memory DisordersABSTRACT
Caso clínico. Paciente con epilepsia causada por una encefalitis límbica no relacionada con un proceso tumoral. Resultados. A lo largo de la evolución, y de forma subaguda, la paciente mostró crisis parciales y áreas variables de afectación de los lóbulos temporales, no simultáneas, que abocaron a una atrofia de las estructuras límbicas y áreas adyacentes y que dieron lugar a un estado de déficit neuropsicológico permanente, fundamentalmente en la memoria reciente verbal y visual. Tras 6 años de evolución, no se ha podido demostrar la coexistencia con un proceso neoplásico (AU)
Case report. A young patient with epilepsy and limbic encephalitis unrelated to neoplasm. Results. The patient in a subacute fashion showed frequent partial seizures with neuropsychological deficits mainly in recent memory capability, with an no simultaneous affectation of both temporal lobe and adjacent structures. After 6 years there was no evidence of underlying malignancy (AU)
