RESUMEN
Coenzyme Q10 (CoQ10) deficiency can manifest diversely, from isolated myopathy to multisystem involvement. Immune dysregulation has not been reported as a feature of the disease. We report a four-year old girl with failure to thrive, recurrent infections, developmental delay with hypotonia, and CoQ10 deficiency with impaired immune function, which improved after CoQ10 and immunoglobulin replacement therapy. Immune dysfunction in CoQ10 deficiency should be considered and treated appropriately.
Asunto(s)
Ataxia/inmunología , Ataxia/metabolismo , Inmunidad/fisiología , Enfermedades Mitocondriales/inmunología , Enfermedades Mitocondriales/metabolismo , Debilidad Muscular/inmunología , Debilidad Muscular/metabolismo , Ubiquinona/análogos & derivados , Ubiquinona/deficiencia , Ataxia/diagnóstico , Ataxia/tratamiento farmacológico , Preescolar , Terapia de Reemplazo Enzimático , Femenino , Humanos , Inmunoglobulina G/sangre , Inmunoglobulina G/inmunología , Subgrupos Linfocitarios/inmunología , Subgrupos Linfocitarios/metabolismo , Enfermedades Mitocondriales/diagnóstico , Enfermedades Mitocondriales/tratamiento farmacológico , Debilidad Muscular/diagnóstico , Debilidad Muscular/tratamiento farmacológico , Resultado del Tratamiento , Ubiquinona/inmunología , Ubiquinona/metabolismo , Ubiquinona/uso terapéuticoRESUMEN
Teenagers with normal hearing, reading, and learning abilities yielded normative data on time-compressed speech, either the Revised CID sentences or 3rd-order sentential approximations. There were 6 Ss, either all boys or all girls, in each of 12 subgroups combining age (median ages: 13, 15, 17 yrs), gender (M or F), SPL of test (45 or 60 db SPL), type of material ( RCIDs or sentential approximations), and percent time compression (0, 40, or 60%). The expected poorer performance was found with sentential approximations, either increased time compression, and with decreased level. This study provides normative data for teenagers' performance on tests of time-compressed sentential material.