Castro-Gago Manuel, Blanco-Barca Manuel Oscar, Gómez-Lado Carmen, Eirís-Puñal Jesús, Campos-González Yolanda, Arenas-Barbero Joaquín
Servicio de Neuropediatría, Hospital Clínico Universitario, Facultad de Medicina, Universidad de Santiago de Compostela, La Choupana s/n, 15706 Santiago de Compostela, Spain.
Brain Dev. 2009 Apr;31(4):322-5. doi: 10.1016/j.braindev.2008.05.009. Epub 2008 Jul 9.
We report an infant with complex I deficiency of the mitochondrial respiratory chain whose most conspicuous symptom at presentation was an Ohtahara syndrome. Review of the literature suggest that association of these two conditions is extremely rare. Despite the few cases reported, in our view Ohtahara syndrome should be considered as one of the forms of presentation of mitochondrial dysfunction.
我们报告了一名患有线粒体呼吸链复合体I缺陷的婴儿，其就诊时最明显的症状是大田原综合征。文献回顾表明，这两种病症的关联极为罕见。尽管报道的病例很少，但我们认为大田原综合征应被视为线粒体功能障碍的表现形式之一。
