RESUMEN
The authors present a case of "surfer's myelopathy," a rarely described syndrome characterized by nontraumatic paraparesis/paraplegia in novice surfers and theorized to result from spinal cord ischemia secondary to surfing-related positional hyperextension. Imaging and clinical course of the youngest known affected individual are discussed, including evidence of acute spinal cord infarction on diffusion-weighted magnetic resonance imaging, a finding not previously described in the literature.
Asunto(s)
Imagen de Difusión por Resonancia Magnética/métodos , Isquemia de la Médula Espinal/diagnóstico , Deportes , Adolescente , Diagnóstico Diferencial , Femenino , Humanos , Isquemia de la Médula Espinal/etiología , Isquemia de la Médula Espinal/rehabilitación , SíndromeRESUMEN
Cognitive disorders in children have traditionally been described in terms of clinical phenotypes or syndromes, chromosomal lesions, metabolic disorders, or neuropathology. Relatively little is known about how these disorders affect the chemical reactions involved in learning and memory. Experiments in fruit flies, snails, and mice have revealed some highly conserved pathways that are involved in learning, memory, and synaptic plasticity, which is the primary substrate for memory storage. These can be divided into short-term memory storage through local changes in synapses, and long-term storage mediated by activation of transcription to translate new proteins that modify synaptic function. This review summarizes evidence that disruptions in these pathways are involved in human cognitive disorders, including neurofibromatosis type I, Coffin-Lowry syndrome, Rubinstein-Taybi syndrome, Rett syndrome, tuberous sclerosis-2, Down syndrome, X-linked alpha-thalassemia/mental retardation, cretinism, Huntington disease, and lead poisoning.