RESUMO
Kearns-Sayer syndrome, a rare mitochondrial disorder, is composed of chronic progressive external ophthalmoplegia, atypical retinal pigmentation and complete heart block, and also causes numerous neurologic or endocrinologic symptoms. On muscle biopsy, a "ragged red fiber" was seen with Gomori trichrome stain, On electron microscopy, aggregations of abnormal mitochondria were demonstrated, confirming the diagnosis of mitochondrial myopathy. We report a case of Kearns-Sayer syndrome we have experienced.
Assuntos
Biópsia , Diagnóstico , Bloqueio Cardíaco , Microscopia Eletrônica , Mitocôndrias , Doenças Mitocondriais , Miopatias Mitocondriais , Oftalmoplegia Externa Progressiva Crônica , Pigmentação , RetinaldeídoRESUMO
Assuntos
Animais , Cricetinae , 9,10-Dimetil-1,2-benzantraceno , Carcinogênese , Carcinoma in Situ , Carcinoma de Células Escamosas , Citoplasma , Epigenômica , Epitélio , Ilhas , Óleo Mineral , Neoplasias Bucais , Mucosa , Prognóstico , Fator de Crescimento Transformador alfa , Fator de Crescimento Transformador beta , Fatores de Crescimento TransformadoresRESUMO