Riggs J E, Klingberg W G, Flink E B, Schochet S S, Balian A A, Jenkins J J
Department of Neurology, West Virginia University School of Medicine, Morgantown.
Neurology. 1992 Jan;42(1):128-30. doi: 10.1212/wnl.42.1.128.
A 3-year-old boy presenting with convulsions and carpopedal spasm had hypomagnesemia and hypermagnesuria due to congenital magnesium-losing nephropathy. Despite chronic oral and intermittent intravenous magnesium supplementation, he remained chronically hypomagnesemic. At age 4, he developed a progressive proximal myopathy and dilated hypertrophic cardiomyopathy that ultimately contributed to his death at age 14 years. Skeletal and cardiac muscle specimens showed a mitochondrial myopathy with increased numbers of enlarged, structurally abnormal mitochondria. Muscle magnesium content was markedly decreased. Chronic oral and intermittent intravenous magnesium supplementation may be inadequate to prevent the progressive cardioskeletal myopathy associated with the chronic magnesium deficiency of congenital magnesium-losing nephropathy.
一名3岁男孩出现惊厥和手足搐搦，因先天性失镁性肾病导致低镁血症和高镁尿症。尽管长期口服并间断静脉补充镁剂，但他仍长期处于低镁血症状态。4岁时，他出现进行性近端肌病和扩张型肥厚性心肌病，最终于14岁死亡。骨骼肌和心肌标本显示为线粒体肌病，线粒体数量增多、增大且结构异常。肌肉镁含量明显降低。长期口服并间断静脉补充镁剂可能不足以预防与先天性失镁性肾病慢性镁缺乏相关的进行性心骨骼肌病。
