Robain O, Richardet J M, Le Balle J C, Arsenio-Nunes M L, Brissaud H E
Sem Hop. 1981;57(5-6):296-301.
The authors give a very complete description of the Kearns and Sayre syndrome : external ophthalmoplegia, pigmentary retinitis, cardiac conduction disorders, cerebellar syndrome, hypacusis, reduced height, raised CSF protein levels, mitochondrial anomalies in muscle, skin, and conjunctivae, and low density zones on scanning. They emphasize the not-infrequent association of endocrine anomalies : hypoparathyroidism, which may be the first manifestation of the disease, and diabetes. The etiology of this syndrome, which occurs sporadically and starts in infancy, is still unknown.
作者对卡恩斯-塞尔综合征进行了非常全面的描述：眼外肌麻痹、色素性视网膜炎、心脏传导障碍、小脑综合征、听力减退、身高降低、脑脊液蛋白水平升高、肌肉、皮肤和结膜中的线粒体异常以及扫描时的低密度区。他们强调了内分泌异常并不罕见的关联：甲状旁腺功能减退，这可能是该疾病的首发表现，以及糖尿病。这种综合征散发发生且始于婴儿期，其病因仍然未知。
