RESUMEN
We report a case of Goldenhar syndrome and hereditary tyrosinemia type 1 [HTT1], to our knowledge an association not previously described. This case further increases the diversity of observations and clinical descriptions of patients with this complex syndrome. We discuss pathogenetic aspects, and demonstrate further evidence of the effectiveness of 2-[2-nitro-4-trifluoromethyl benzoyl]-1,3-cyclohexanedione in the treatment of HTT1
Asunto(s)
Humanos , Femenino , Tirosinemias/diagnóstico , 4-Hidroxifenilpiruvato Dioxigenasa , Errores Innatos del Metabolismo de los Aminoácidos , Síndrome de Goldenhar/etiologíaRESUMEN
We report a case of Goldenhar syndrome and hereditary tyrosinemia type 1 [HTT1], to our knowledge an association not previously described. This case further increases the diversity of observations and clinical descriptions of patients with this complex syndrome. We discuss pathogenetic aspects, and demonstrate further evidence of the effectiveness of 2-[2-nitro-4-trifluoromethyl benzoyl]-1,3-cyclohexanedione in the treatment of HTT1