Laloi-Michelin M, Virally M, Jardel C, Meas T, Ingster-Moati I, Lombès A, Massin P, Chabriat H, Tielmans A, Mikol J, Guillausseau P J
Department of Internal Medicine-Diabetes and Metabolic Diseases, Hôpital Lariboisière, Paris, France.
Diabetes Metab. 2006 Apr;32(2):182-6. doi: 10.1016/s1262-3636(07)70267-7.
Kearns Sayre syndrome (KSS) is a mitochondrial disorder characterized by the emergence before age 20 of progressive external ophthalmoplegia, pigmentary retinopathy, together with other heterogeneous clinical manifestations, including cardiac conduction defects, muscle abnormalities and endocrinopathies. KSS is associated with large heteroplasmic deletions in mitochondrial DNA. We report the case of a 43-year-old woman, with diabetes mellitus as a first manifestation at age 19. Later, she exhibited bilateral ptosis and external ophthalmoplegia with progressive worsening. DNA analysis identified a large mitochondrial DNA (mtDNA) deletion, which confirmed the diagnosis of KSS. By reporting this case with diabetes mellitus as first manifestation, we aim at emphasizing problems of diagnosis in these subtypes of mitochondrial diabetes.
卡恩斯-塞尔综合征（KSS）是一种线粒体疾病，其特征为在20岁之前出现进行性眼外肌麻痹、色素性视网膜病变，以及其他多种临床表现，包括心脏传导缺陷、肌肉异常和内分泌疾病。KSS与线粒体DNA的大片异质性缺失有关。我们报告了一例43岁女性病例，她在19岁时首次出现糖尿病症状。后来，她出现双侧上睑下垂和进行性加重的眼外肌麻痹。DNA分析发现了一个大片段线粒体DNA（mtDNA）缺失，从而确诊为KSS。通过报告这例以糖尿病为首发表现的病例，我们旨在强调这些线粒体糖尿病亚型的诊断问题。
