RESUMEN
Among the hereditary affections of the nervous system associated with deafness, a rare condition called "progressive pontobulbar palsy with deafness" has been described. In this slowly progressive condition, hearing loss and vestibular are-flexia are almost always the first symptoms, occurring in late childhood or early adulthood. Only 18 cases-some sporadic, several familial-have been published without a full report of pathological findings. The clinical and pathological data of two new cases-one familial, one sporadic-are described here. There are differences from other forms of bulbar paralysis, lower motor neuron diseases, and some spinocerebellar hereditary affections. In view of the homochrony and homotypy in familial cases and the pathological findings, progressive pontobulbar palsy with deafness appears to be an abiotrophic process wih autosomal recessive inheritance.
Asunto(s)
Sordera/patología , Parálisis/patología , Adolescente , Encéfalo/patología , Tronco Encefálico/patología , Niño , Nervios Craneales/patología , Femenino , Humanos , Reflejo Anormal/patología , Vestíbulo del LaberintoRESUMEN
Progressive ponto-bulbar palsy with deafness is a rare disease. It seems to be an abiotrophic process with autosomal recessive inheritance in most instances. Only one autopsy case had been briefly described (Lelong et al., 1941). The clinical features and the pathological findings of a new case are reported. The structures primarily involved are the grey matter of the brain stem and the spinal cord, including to some extent the optic tracts and most of the fiber tracts in the brain stem with exception of the pyramidal tracts.
Asunto(s)
Encefalopatías/patología , Sordera/complicaciones , Parálisis/complicaciones , Patología , Síndrome/patología , Adolescente , Encefalopatías/genética , Tronco Encefálico/patología , Parálisis Bulbar Progresiva/patología , Sordera/genética , Sordera/patología , Femenino , Humanos , Formación Reticular/patología , Médula Espinal/patología , Vías Visuales/patologíaAsunto(s)
Calcinosis/complicaciones , Hematoma Subdural/complicaciones , Anciano , Encefalopatías/complicaciones , Encefalopatías/diagnóstico por imagen , Encefalopatías/cirugía , Calcinosis/diagnóstico por imagen , Calcinosis/cirugía , Angiografía Cerebral , Enfermedad Crónica , Hematoma Subdural/diagnóstico por imagen , Hematoma Subdural/cirugía , Humanos , Masculino , Tomografía Computarizada por Rayos XRESUMEN
Three new cases of chronic vitamin A intoxication are reported and a review of the literature with special reference to chronic intoxication in adolescents and adults is presented. The most prominent features are intracranial hypertension, skin and hair deviations, pain in the musculoskeletal system, and fatigue. Intracranial hypertension occurs in 50% of chronic intoxications, but is not invariably linked with the other symptoms. Young women are the major age group represented. There seems to be no relation between the severity of the clinical picture and the vitamin A serum level. Discontinuance of vitamin A intake is sufficient for cure.