以孤立性生长发育迟缓为表现的卡恩斯-塞尔综合征。
Kearns-Sayre syndrome presenting as isolated growth failure.
作者信息
Holloman Conisha Mone, Wolfe Lynne A, Gahl William A, Boerkoel Cornelius F
机构信息
Undiagnosed Diseases Program, Office of the Director and NHGRI, NIH, Bethesda, Maryland, USA.
出版信息
BMJ Case Rep. 2013 Feb 18;2013:bcr2012007272. doi: 10.1136/bcr-2012-007272.
Abstract
Failure to thrive arises from a heterogeneous group of paediatric disorders including defects in energy metabolism such as mitochondrial diseases. Illustrating this, we describe a girl with poor growth who eluded diagnosis until she developed characteristics of Kearns-Sayre syndrome. Her history emphasises that defects of energy metabolism can present as isolated growth failure.
摘要
生长发育不良源于多种儿科疾病，包括能量代谢缺陷，如线粒体疾病。为说明这一点，我们描述了一名生长发育迟缓的女孩，她一直未被诊断出来，直到出现了卡恩斯-塞尔综合征的特征。她的病史强调，能量代谢缺陷可表现为单纯的生长发育迟缓。
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