Zaffanello M, Zamboni G
Department of Paediatrics, University of Verona, Verona, Italy.
Minerva Pediatr. 2005 Jun;57(3):143-6.
Mitochondrial cytopathy is a multisystemic disease that requires different pharmacological and specialist approaches; although most therapies are usually of scarce effectiveness. We describe a clinical management of a very young girl with Pearson's syndrome that developed the symptoms of Kearns-Sayre syndrome. Many of symptoms were temporarily improved by the replacement therapy with hydrocortisone introduced to treat the partial adrenal insufficiency. During her life, she showed an ample clinical spectrum of symptoms because of multiple organs involvements: firstly bone marrow and, thereafter, brain, retina, inner ear, and kidney. Partial adrenal insufficiency, rarely described in mitochondrial disorders, was a distinctive characteristic of this case. When our patient was treated with hydrocortisone, in addition to ubiquinone and carnitine, the episodes of decompensation regressed and an improvement of the adrenal insufficiency, but only temporary reversion of the weakness of muscle, ophthalmoplegia and of the fatigue, were testified. Nevertheless, after a brief period of recovery, she developed the de Toni-Debré-Fanconi syndrome and the reappearance of the neurological symptoms.
线粒体细胞病是一种多系统疾病，需要不同的药物治疗和专业方法；尽管大多数治疗通常效果不佳。我们描述了一名患有皮尔逊综合征的非常年轻女孩的临床管理情况，她后来出现了卡恩斯-塞尔综合征的症状。通过引入氢化可的松替代疗法治疗部分肾上腺功能不全，许多症状得到了暂时改善。在她的一生中，由于多个器官受累，她表现出了广泛的临床症状谱：首先是骨髓，随后是大脑、视网膜、内耳和肾脏。部分肾上腺功能不全在线粒体疾病中很少被描述，是该病例的一个独特特征。当我们的患者接受氢化可的松治疗时，除了辅酶Q和肉碱外，失代偿发作有所缓解，肾上腺功能不全有所改善，但仅肌肉无力、眼肌麻痹和疲劳出现了暂时的好转。然而，在短暂的恢复后，她又出现了德托尼-德布雷-范科尼综合征和神经症状的复发。
