RESUMEN
Niemann-Pick disease type C (NPC) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various movement disorders (ataxia, chorea, dystonia, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and seizures. A recent case report demonstrated a delay in diagnosis of eight years when a patient with NPC presented with psychosis. This article reviewed all cases seen at the Mayo Clinic with a possible diagnosis of NPC between 1976 and 2000. Of the 52 possible cases, five had an established diagnosis of adult onset NPC. Of these, two presented with psychosis and were not diagnosed with NPC for 5 and 15 years, respectively. NPC may initially present in adulthood with psychosis, and when psychosis is associated with VSGP, various dyskinesias, and seizures, NPC should be suspected.
Asunto(s)
Edad de Inicio , Enfermedades de Niemann-Pick/complicaciones , Enfermedades de Niemann-Pick/diagnóstico , Trastornos Psicóticos/diagnóstico , Trastornos Psicóticos/etiología , Adulto , Femenino , Humanos , Persona de Mediana Edad , Factores de TiempoRESUMEN
The diagnosis of mania in the geriatric population is uncommon. However, it comprises significant healthcare utilization and cost requirements, which are expected to increase in the near future with the projected increase in the geriatric population. The authors review literature pertaining to geriatric mania and discuss epidemiology, psychopathology, neuropathology, differential diagnosis, evaluation, treatment, and outcomes. Literature searches were performed by GratefulMed for the years 1960-1997, with secondary- and tertiary-source follow-up. It is clear from this review that geriatric mania is a complex illness with many possible etiologies and treatments. Much more research needs to be conducted in all of the areas reviewed.