North K, Korson M S, Krawiecki N, Shoffner J M, Holm I A
Department of Medicine, Children's Hospital, Boston, Massachusetts 02115, USA.
J Pediatr. 1996 May;128(5 Pt 1):688-92. doi: 10.1016/s0022-3476(96)80136-3.
An 18-month-old girl with an oxidative phosphorylation defect had neonatal onset of chronic lactic acidosis, lipid storage myopathy, bilateral cataracts, and primary adrenal insufficiency. Chronic lactic acidosis responded to treatment with dichloroacetate. Sequential muscle biopsies demonstrated resolution of the lipid storage myopathy associated with the return to normal muscle free carnitine levels. This case demonstrates a new clinical phenotype associated with a defect in oxidative phosphorylation and the need to consider mitochondrial disorders in the differential diagnosis of primary adrenal insufficiency in childhood.
一名患有氧化磷酸化缺陷的18个月大女孩在新生儿期出现慢性乳酸酸中毒、脂质贮积性肌病、双侧白内障和原发性肾上腺功能不全。慢性乳酸酸中毒对二氯乙酸治疗有反应。连续的肌肉活检显示，随着肌肉游离肉碱水平恢复正常，脂质贮积性肌病得到缓解。该病例显示了一种与氧化磷酸化缺陷相关的新临床表型，以及在儿童原发性肾上腺功能不全的鉴别诊断中需要考虑线粒体疾病。
