Asunto(s)
Encéfalo/fisiopatología , Adulto , Ácido Aspártico/análogos & derivados , Ácido Aspártico/metabolismo , Ataxia/congénito , Ataxia/patología , Ataxia/fisiopatología , Encéfalo/metabolismo , Encéfalo/patología , Creatina/metabolismo , Electroencefalografía/métodos , Electromiografía/métodos , Femenino , Humanos , Leucoencefalopatías/patología , Leucoencefalopatías/fisiopatología , Imagen por Resonancia Magnética , Espectroscopía de Resonancia Magnética , MasculinoAsunto(s)
Hipotonía Muscular/etiología , Espasmos Infantiles/etiología , Ubiquinona/análogos & derivados , Salud de la Familia , Femenino , Humanos , Recién Nacido , Hipotonía Muscular/complicaciones , Hipotonía Muscular/patología , Fenotipo , Espasmos Infantiles/complicaciones , Espasmos Infantiles/patología , Nervio Sural/patología , Nervio Sural/ultraestructura , Ubiquinona/deficienciaRESUMEN
The authors describe peripheral nerve involvement in a 12-month-old boy with Cree leukodystrophy. Nerve conduction and genetic studies were performed during investigation of his leukodystrophy. Mutation analysis of the eukaryotic initiation factor 2B5 gene detected homozygosity of the R195 mutation, confirming the diagnosis of Cree leukodystrophy. Median and posterior tibial motor nerve conduction study results were normal, but sensory responses in the median nerves were unobtainable bilaterally, in keeping with a sensory axonal neuropathy. Somatosensory-evoked potentials were absent in the upper extremities and delayed in the lower extremities, confirming sensory nerve involvement. This degree of sensory nerve involvement has not been previously reported in patients with eukaryotic initiation factor 2B5-related disorders. Peripheral neuropathy should be looked for both clinically and with electrodiagnostic studies in patients with eukaryotic initiation factor 2B-related disorders.