RESUMEN
A 4-year-old girl was hospitalized for psychomotor delay, low vision, and horizontal nystagmus. She was found to have bilateral chorioretinal atrophic scars and 2 large occipital porencephalic cavities. High plasma ornithine levels led to the presumed diagnosis of gyrate atrophy of the choroid and retina. After 6 months of arginine-restricted diet and high-dose pyridoxine (300 mg/d), there was no change of plasma ornithine level or ocular findings. To our knowledge, this is the first report showing an association of porencephaly with gyrate atrophy of the choroid and retina.
Asunto(s)
Encefalopatías/etiología , Enfermedades de la Coroides/etiología , Atrofia Girata/etiología , Degeneración Retiniana/etiología , Atrofia , Encefalopatías/patología , Preescolar , Enfermedades de la Coroides/patología , Femenino , Atrofia Girata/complicaciones , Atrofia Girata/patología , Atrofia Girata/terapia , Humanos , Imagen por Resonancia Magnética , Degeneración Retiniana/patologíaRESUMEN
Oral lysine administration to three patients with B6-nonresponsive gyrate atrophy reduced plasma ornithine concentrations by 21-31% within 1-2 days. No further reduction was noted with time.