Mazziotta M R, Ricci E, Bertini E, Dionisi Vici C, Servidei S, Burlina A B, Sabetta G, Bartuli A, Manfredi G, Silvestri G
Department of Metabolism, Bambino Gesù Hospital, Rome, Italy.
J Pediatr. 1992 Dec;121(6):896-901. doi: 10.1016/s0022-3476(05)80335-x.
A 3-month-old girl was admitted to the hospital because of hypotonia and frequent vomiting. She had severe metabolic acidosis and her liver function was abnormal. Hepatomegaly and rapidly progressive liver failure developed, and she died at 4 months of age. Two half-siblings from a different mother had died in infancy of an undiagnosed myopathy. The liver was fatty and hepatocytes were filled with large and small lipid droplets. Other tissues were morphologically normal. The respiratory chain enzymes containing subunits encoded by mitochondrial DNA were markedly decreased in liver, partially decreased in muscle, but normal in other tissues. Southern blot analysis showed 90% depletion of mitochondrial DNA in liver, 53% depletion in muscle, and normal amounts in other tissues. This is the second case of fatal infantile liver failure associated with mitochondrial DNA depletion. This pathogenetic mechanism should be considered in infants with multiple respiratory chain defects and variable tissue expression.
一名3个月大的女孩因肌张力减退和频繁呕吐入院。她患有严重的代谢性酸中毒，肝功能异常。出现肝肿大和快速进展的肝功能衰竭，于4个月龄时死亡。来自不同母亲的两个同父异母的兄弟姐妹在婴儿期死于未确诊的肌病。肝脏呈脂肪样，肝细胞充满大小不等的脂滴。其他组织形态正常。肝脏中含有线粒体DNA编码亚基的呼吸链酶显著减少，肌肉中部分减少，但其他组织正常。Southern印迹分析显示肝脏中线粒体DNA缺失90%，肌肉中缺失53%，其他组织含量正常。这是第二例与线粒体DNA缺失相关的致命性婴儿肝功能衰竭病例。对于有多种呼吸链缺陷和不同组织表达的婴儿，应考虑这种发病机制。
