Oxidative phosphorylation defect associated with primary adrenal insufficiency

被引:22
作者
North, K
Korson, MS
Krawiecki, N
Shoffner, JM
Holm, IA
机构
[1] CHILDRENS HOSP, DIV GENET, DEPT MED, BOSTON, MA 02115 USA
[2] EMORY UNIV, SCH MED, DEPT GENET & MOLEC MED, ATLANTA, GA USA
关键词
D O I
10.1016/S0022-3476(96)80136-3
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
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.
引用
收藏
页码:688 / 692
页数:5
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