RESUMO
Presentamos el caso de una paciente joven con diagnóstico clínico y genético de síndrome de Kearns-Sayre (SKS). Como hallazgos, destacaban blefaroptosis, limitación de la motilidad extrínseca ocular, retinopatía en sal y pimienta así como insuficiencia mitral leve. La anatomía patológica indicaba citopatía mitocondrial y el estudio genético detectó deleción y duplicación en heteroplasmia del ADN mitocondrial. El SKS es un raro trastorno neuromuscular, caracterizado por la tríada oftalmoplejía externa progresiva, retinopatía pigmentaria y bloqueo cardíaco. La detección temprana del SKS es clave para evitar potenciales complicaciones cardíacas
The clinical case and genetic diagnosis of Kearns-Sayre syndrome (KSS) is described in a young patient. The findings included: ptosis, ocular motility disturbances, pigmentary retinopathy, as well as mitral insufficiency. A muscle biopsy revealed mitochondrial cytopathyand heteroplasmic mitochondrial DNA deletions. KSS is a rare neuromuscular disorder defined by a characteristic triad of progressive external ophthalmoplegia, pigmentary retinopathy and atrioventricular block. Early detection is essential to avoid potential cardiac complications
Assuntos
Humanos , Feminino , Criança , Síndrome de Kearns-Sayre/complicações , Síndrome de Kearns-Sayre/diagnóstico , Síndrome de Kearns-Sayre/genética , Oftalmologia/educação , Oftalmologia/métodos , Retinopatia Hipertensiva/diagnóstico , Blefaroptose/diagnóstico , Síndrome de Kearns-Sayre/metabolismo , Síndrome de Kearns-Sayre/prevenção & controle , Oftalmologia/instrumentação , Retinopatia Hipertensiva/complicações , Movimentos Oculares/genética , Blefaroptose/complicaçõesRESUMO
The clinical case and genetic diagnosis of Kearns-Sayre syndrome (KSS) is described in a young patient. The findings included: ptosis, ocular motility disturbances, pigmentary retinopathy, as well as mitral insufficiency. A muscle biopsy revealed mitochondrial cytopathyand heteroplasmic mitochondrial DNA deletions. KSS is a rare neuromuscular disorder defined by a characteristic triad of progressive external ophthalmoplegia, pigmentary retinopathy and atrioventricular block. Early detection is essential to avoid potential cardiac complications.
