RESUMEN
The authors report on five patients (three female, two male) with multiple brain calcifications, infantile celiac disease, and epilepsy. The clinical, neuroradiological, neurophysiological, EEG and evolutional aspects are assessed. The authors propose that all patients with brain calcifications which cannot be traced to other known pathologies should undergo diagnostic tests for a malabsorption syndrome; analogously, patients affected with infantile celiac disease should undergo EEG, followed by a neuroradiological examination if the EEG pattern is found to be altered.
Asunto(s)
Encefalopatías Metabólicas/diagnóstico , Calcinosis/diagnóstico , Enfermedad Celíaca/diagnóstico , Epilepsia/diagnóstico , Adolescente , Encéfalo/patología , Encéfalo/fisiopatología , Encefalopatías Metabólicas/fisiopatología , Calcinosis/fisiopatología , Enfermedad Celíaca/fisiopatología , Corteza Cerebral/patología , Corteza Cerebral/fisiopatología , Niño , Diagnóstico Diferencial , Electrocardiografía , Epilepsia/fisiopatología , Potenciales Evocados/fisiología , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Tomografía Computarizada por Rayos XRESUMEN
Recent neurophysiological studies have identified a characteristic profile in the case of certain progressive infantile encephalopathies which, together with clinical data, may assist with the diagnosis. The authors report a case of juvenile ceroid lipofuscinosis (Spielmeyer-Vogt disease) and stress the importance of carrying out neurophysiological investigations for diagnostic purposes and for controlling the progression of the disease. The effect of antioxidant therapy (sodium selenite and vitamin E) on these investigations and on the natural evolution of the disease is also discussed.
Asunto(s)
Electrorretinografía , Potenciales Evocados Visuales/fisiología , Lipofuscinosis Ceroideas Neuronales/genética , Lipofuscinosis Ceroideas Neuronales/fisiopatología , Encéfalo/patología , Corteza Cerebral/patología , Corteza Cerebral/fisiopatología , Niño , Consanguinidad , Electroencefalografía , Femenino , Fondo de Ojo , Humanos , Cuerpos de Inclusión/ultraestructura , Microscopía Electrónica , Lipofuscinosis Ceroideas Neuronales/patologíaAsunto(s)
Corteza Cerebral/fisiopatología , Epilepsias Parciales/etiología , Epilepsia Tipo Ausencia/etiología , Hemiplejía/congénito , Adolescente , Encéfalo/diagnóstico por imagen , Niño , Preescolar , Electroencefalografía , Epilepsias Parciales/diagnóstico , Epilepsia Tipo Ausencia/diagnóstico , Femenino , Hemiplejía/complicaciones , Hemiplejía/diagnóstico , Humanos , Lactante , Masculino , Tomografía Computarizada por Rayos XRESUMEN
The brainstem-evoked response audiometry (BERA) is probably the most common approach to hearing assessment in high-risk and developmentally handicapped infants. It is usually suggested, however, that BERA should not be the sole assessment method. In an attempt to determine an effective supplement to BERA, the present study evaluated a classical conditioning procedure with developmentally impaired babies. Within this procedure, different tones served as conditioned stimuli while an air-puff was used as the unconditioned stimulus. Results indicate that this procedure could be successfully applied with almost all of the babies.
