Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia
Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia
复制标题
家族性脊髓灰质炎、线粒体肌病和乳酸血症
作者：
Y. Shapira;S. Cederbaum;P. Cancilla;D. Nielsen;B. Lippe
在两个患有肢带肌无力和阵发性头痛的兄弟姐妹中，从幼儿期开始呕吐，后来发展为进行性神经退行性疾病，两个孩子都死了。在一名儿童中，皮质类固醇引起持续1年的大脑和肌肉症状的改善。该患者血液、尿液和脊髓液乳酸盐水平升高，同时静息时心输出量和耗氧量增加。几种肌纤维的特征在于用三色染色的“参差不齐的红色”外观。电镜下肌膜下和肌原纤维间线粒体氧化酶反应产物过量与异常线粒体聚集体相关。大脑显示皮质变性和坏死的局灶性区域，伴有相邻的神经胶质增生或水肿。铁钙化沉积物是突出的苍白球。另一个兄弟在尸检时大脑也有类似的变化。这种家族性多系统疾病，特别是涉及大脑，骨骼肌和心脏，似乎代表了一些线粒体氧化机制的缺陷。
In two siblings with limb-girdle muscle weakness and episodic headaches and vomiting from early childhood, progressive neurologic degeneration later developed, and both children died. In one child, corticosteroids induced improvement in both cerebral and muscular symptoms that lasted 1 year. This patient had elevated blood, urine, and spinal fluid lactate levels, together with increased cardiac output and oxygen consumption at rest. Several muscle fibers were characterized by a “ragged red” appearance with the trichrome stain. Subsarcolemmal and intermyofibrillar excess of mitochondrial oxidative enzyme reaction product was correlated with abnormal mitochondrial aggregates by electron microscopy. The brain revealed focal areas of cortical degeneration and necrosis with adjacent gliosis or edema. Ferrocalcific deposits were prominent in the globus pallidus. The other sibling had similar changes in the brain at autopsy. This familial multisystem disorder especially involving the brain, skeletal muscle, and heart appears to represent a defect in some mitochondrial oxidative mechanism.