Asunto(s)
Inmunoglobulinas Intravenosas/uso terapéutico , Degeneración Cerebelosa Paraneoplásica/tratamiento farmacológico , Anciano , Antineoplásicos/efectos adversos , Carboplatino/efectos adversos , Femenino , Humanos , Neoplasias Ováricas/complicaciones , Neoplasias Ováricas/tratamiento farmacológico , Paclitaxel/efectos adversos , Polineuropatías/inducido químicamenteRESUMEN
We describe a patient with acute combined demyelinating disease of the central and peripheral nervous systems associated with the A8344G mutation in the mitochondrial tRNA lysine gene. A 7-year-old boy presented with acute onset of palpitations, tinnitus, ataxia, bilateral sixth nerve palsy, and flaccid quadriparesis. Serum creatine kinase and lactate were mildly increased. Electromyography showed demyelinating sensory and motor polyneuropathy. Brain magnetic resonance imaging demonstrated demyelination in the left thalamus and magnetic resonance spectroscopy revealed a lactate peak corresponding to this lesion. Histologic analysis of the muscle showed cytochrome c-oxidase-deficient fibers and ragged red fibers. Respiratory chain analyses revealed deficiencies of complexes I and IV. Molecular genetic analyses of the muscle showed an A8344G (MERRF) mutation in mitochondrial tRNA lysine. To the best of our knowledge, this is the first description of this mutation associated with acute combined demyelinating disease of the central and peripheral nervous systems.
Asunto(s)
Predisposición Genética a la Enfermedad/genética , Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias/genética , Enfermedades del Sistema Nervioso Periférico/genética , ARN de Transferencia de Lisina/genética , Enfermedades del Nervio Abducens/genética , Ataxia/genética , Niño , Análisis Mutacional de ADN , Electromiografía , Marcadores Genéticos/genética , Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias/patología , Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias/fisiopatología , Humanos , Síndrome MERRF/genética , Imagen por Resonancia Magnética , Masculino , Músculo Esquelético/metabolismo , Músculo Esquelético/patología , Músculo Esquelético/fisiopatología , Mutación/genética , Enfermedades del Sistema Nervioso Periférico/patología , Enfermedades del Sistema Nervioso Periférico/fisiopatología , Cuadriplejía/genéticaRESUMEN
Three unrelated, sporadic patients with muscle coenzyme Q10 (CoQ10) deficiency presented at 32, 29, and 6 years of age with proximal muscle weakness and elevated serum creatine kinase (CK) and lactate levels, but without myoglobinuria, ataxia, or seizures. Muscle biopsy showed lipid storage myopathy, combined deficiency of respiratory chain complexes I and III, and CoQ10 levels below 50% of normal. Oral high-dose CoQ10 supplementation improved muscle strength dramatically and normalized serum CK.
