Werneck L C, Abdalla H, Lohr A
Departamento de Clínica Médica, Universidade Federal do Paraná, Curitiba.
Arq Neuropsiquiatr. 1987 Sep;45(3):288-94. doi: 10.1590/s0004-282x1987000300009.
The case of 12 years-old boy with seizures, headache, severe vomit and focal neurological signs is reported. These episodes had several recurrences and regression with little neurologic deficits. In the investigation it was found: lactic acidosis; stroke like episodes and calcification in the basal ganglia on computerized axial tomography; ragged red fibers on muscle biopsy and decreased of cytochrome C oxidase in the muscle tissue. A revision about mitochondrial disorders with involvement of the central nervous system and muscle is made, with emphasis on diagnosis and recognition of MELAS.
报告了一名12岁男孩出现癫痫发作、头痛、严重呕吐和局灶性神经体征的病例。这些发作有多次复发和缓解，几乎没有神经功能缺损。在检查中发现：乳酸酸中毒；计算机断层扫描显示基底节有类似中风的发作和钙化；肌肉活检发现破碎红纤维，肌肉组织中细胞色素C氧化酶减少。对涉及中枢神经系统和肌肉的线粒体疾病进行了综述，重点是线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）的诊断和识别。
