Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.
J Neurol Sci. 2010 May 15;292(1-2):104-6. doi: 10.1016/j.jns.2010.02.006. Epub 2010 Mar 11.
A 26-month-old child presented with an unusual combination of growth retardation, renal proximal tubulopathy, hypoparathyroidism, and episodic encephalopathy with fever and lethargy. Muscle biopsy revealed defects of mitochondrial respiratory chain enzyme complexes I, III, and IV, but no ragged-red fibers or cytochrome c oxidase deficient fibers. Analysis of muscle mitochondrial DNA (mtDNA) showed a heteroplasmic 7663 base pair (bp) single deletion with a perfect 10 bp direct sequence repeat at the boundaries. At age 3 years and 9 months, the child developed sepsis and acute deterioration of her encephalopathy leading to death. This case expands the phenotypic diversity of mitochondrial disorders in pediatric patients and reinforces the importance of biochemical analyses of muscle biopsies in patients suspected of having a mitochondrial disorder.
一个 26 个月大的孩子表现出生长迟缓、肾近端小管病变、甲状旁腺功能减退症和伴有发热和嗜睡的阵发性脑病的不寻常组合。肌肉活检显示线粒体呼吸链酶复合物 I、III 和 IV 的缺陷，但没有破碎红纤维或细胞色素 c 氧化酶缺陷纤维。肌肉线粒体 DNA (mtDNA) 分析显示，存在异质性 7663 个碱基对 (bp) 的单一缺失，边界处有完美的 10 bp 直接重复序列。在 3 岁零 9 个月时，患儿发生脓毒症，脑病急性恶化，导致死亡。该病例扩展了儿科患者线粒体疾病的表型多样性，并强调了对疑似线粒体疾病患者进行肌肉活检生化分析的重要性。
