RESUMEN
Leukodystrophies are a group of genetic diseases with diverse clinical features and prominent involvement of the central nervous system white matter. We describe a 27-year-old man who presented with a progressive neurological disease, and striking involvement of the brainstem and symmetrical white matter lesions on MR scanning. Having excluded several other causes of leukodystrophy, we confirmed Alexander disease when a genetic panel showed a probable pathogenic variant in GFAP: p.Leu359Pro. Clinicians should suspect Alexander disease in people with a progressive neurological motor decline who has pyramidal and bulbar signs and compatible neuroimaging.
Asunto(s)
Enfermedad de Alexander , Médula Cervical , Masculino , Humanos , Adulto , Enfermedad de Alexander/complicaciones , Enfermedad de Alexander/diagnóstico por imagen , Enfermedad de Alexander/genética , Proteína Ácida Fibrilar de la Glía/genética , Médula Cervical/patología , Tronco Encefálico/diagnóstico por imagen , Tronco Encefálico/patología , Imagen por Resonancia Magnética/métodosAsunto(s)
Mordeduras y Picaduras de Insectos , Trastornos Parkinsonianos , Avispas , Animales , Ganglios Basales/diagnóstico por imagen , Ganglios Basales/patología , Humanos , Mordeduras y Picaduras de Insectos/complicaciones , Mordeduras y Picaduras de Insectos/patología , Trastornos Parkinsonianos/etiologíaRESUMEN
ABSTRACT. We reported a case of a 61-year-old male patient with anacusis, cerebellar syndrome, myoclonus, and frontal signs. The brain magnetic resonance imaging showed bilateral striated hyperintensity of the fluid-attenuated inversion recovery and restricted diffusion in the diffusion-weighted imaging and hypointense areas corresponding to the apparent diffusion coefficient in the cerebral cortex. The autopsy revealed positive immunohistochemistry for the PrPSc protein. Creutzfeldt-Jakob disease presenting with hearing loss is unusual.
RESUMO. Relatamos o caso de um paciente do sexo masculino, 61 anos, com anacusia, síndrome cerebelar, mioclonia e sinais frontais. A ressonância magnética cerebral mostrou hiperintensidade estriada bilateral do fluid-attenuated inversion recovery (FLAIR) e difusão restrita no diffusion-weighted imaging (DWI) e áreas hipointensas correspondendo ao coeficiente de difusão aparente no córtex cerebral. A autópsia revelou imuno-histoquímica positiva para a proteína PrPSc. A doença de Creutzfeldt-Jakob que se apresenta com perda auditiva é incomum.