Mihai Cristina Maria, Catrinoiu Doina, Toringhibel Marius, Stoicescu Ramona Mihaela, Hancu Anca
Pediatric Department for Diabetes, Nutrition and Metabolic Disorders in Children, 'Ovidius' University Constanta, Faculty of Medicine, 900591 Constanta, Romania.
J Med Case Rep. 2009 Nov 3;3:101. doi: 10.1186/1752-1947-3-101.
Kearns-Sayre syndrome is a mitochondrial myopathy that demonstrates chronic progressive ophthalmoplegia with onset before the age of 20 and pigmentary degeneration of the retina.
We report the case of an 18-year-old Romanian man with short stature, external ophthalmoplegia, palpebral ptosis, myopathy, sensorineural hearing impairment, cerebellar ataxia, cardiac conduction defect, diabetes mellitus, hypoparathyroidism and hyperaldosteronism. The patient's evolution showed progressive insufficiency of the renal tubule: hyperphosphaturia, hyperaminoaciduria and, later, glucosuria (de Toni-Debré-Fanconi syndrome), a syndrome, to date, rarely diagnosed in association with complete Kearns-Sayre syndrome. The final diagnosis was delayed for several years and was only established when he developed diabetes mellitus. Southern blot analysis and polymerase chain reaction amplification revealed the presence of a deletion in the mitochondrial DNA.
DESPITE THE RARITY OF THIS SYNDROME, THE DIAGNOSIS WAS EASILY MADE DUE TO THE PRESENCE OF THE CLASSIC TRIAD: external ophthalmoplegia, pigmentary retinopathy and onset in a patient younger than 20 years old. In our opinion, a search for Kearns-Sayre syndrome in all patients with de Toni-Debré-Fanconi syndrome is a valuable medical routine.
凯-塞尔综合征是一种线粒体肌病，表现为慢性进行性眼肌麻痹，发病年龄在20岁之前，伴有视网膜色素变性。
我们报告一例18岁罗马尼亚男性患者，有身材矮小、眼球外肌麻痹、眼睑下垂、肌病、感音神经性听力障碍、小脑共济失调、心脏传导缺陷、糖尿病、甲状旁腺功能减退和醛固酮增多症。患者病情进展显示肾小管进行性功能不全：高磷酸盐尿、高氨基酸尿，随后出现糖尿（德托尼-德布雷-范科尼综合征），该综合征迄今为止很少与完全性凯-塞尔综合征相关联诊断。最终诊断延迟了数年，直到他患上糖尿病时才得以确立。Southern印迹分析和聚合酶链反应扩增显示线粒体DNA存在缺失。
尽管该综合征罕见，但由于存在典型三联征：眼球外肌麻痹、色素性视网膜病变以及发病年龄小于20岁，诊断并不困难。我们认为，对所有德托尼-德布雷-范科尼综合征患者进行凯-塞尔综合征筛查是一项有价值的医疗常规操作。
