RESUMEN
Patients with multiple sclerosis (MS) may develop a peripheral neuropathy, sometimes attributed to nutritional deficiency. Other patients present with a demyelinating neuropathy which is presumed to be the result of an autoimmune process that affects both the central and peripheral nervous systems. We report a case of concurring MS and demyelinating neuropathy, without a positive family history, in whom genetic testing proved the neuropathy to be hereditary and not autoimmune. Hereditary neuropathy should be a consideration in sporadic cases of peripheral neuropathy and MS.
Asunto(s)
Enfermedad de Charcot-Marie-Tooth/genética , ADN/análisis , Enfermedades Desmielinizantes/genética , Esclerosis Múltiple/genética , Adulto , Enfermedad de Charcot-Marie-Tooth/diagnóstico , Enfermedades Desmielinizantes/diagnóstico , Diagnóstico Diferencial , Potenciales Evocados/fisiología , Femenino , Genotipo , Humanos , Imagen por Resonancia Magnética , Esclerosis Múltiple/diagnósticoRESUMEN
Myasthenia gravis is caused by antibodies against acetylcholine receptors and is treated with inhibition or elimination of antibody production. We report a 43-year-old myasthenic female who was symptomatic until she developed proteinuria from nephrotic syndrome, which caused a marked drop in acetylcholine receptor antibody titer with remission of myasthenia. Treatment of the nephrotic syndrome produced exacerbation of her myasthenia and a rise in antibody level. This patient's improvement is the result of antibody elimination during proteinuria in nephrotic syndrome.