摘要： 目的 探讨线粒体脑病临床、影像学及病理学特点。方法与结果 女性患者，52 岁。因发作性肢体抽搐、麻木共3 次入院，临床表现为局灶性癫发作、智能障碍，双侧锥体束征阳性。影像学检查均考虑为缺血性卒中及脑萎缩，脑电图显示中至重度异常波形。脑脊液红细胞计数1.04 × 10⁶/L，中性粒细胞比例、蛋白定量和免疫球蛋白IgG 水平升高，氯化物水平降低；血清超敏C 反应蛋白和红细胞沉降率升高。组织病理学显示皮质内部分神经元肿胀，星形胶质细胞反应性增生及毛细血管数目增加；肿胀及形态正常的神经元胞质内均有Mito 染色阳性颗粒物质存在，反应性星形胶质细胞胶质纤维酸性蛋白表达阳性。电子显微镜观察，神经元胞质内大量异常线粒体堆积，形态、大小不一，线粒体嵴变平或延长并旋绕成同心圆状，线粒体内出现嗜锇小体和类结晶样包涵体。结论 线粒体脑病临床少见，易误诊为缺血性卒中，对线粒体病的诊断需进行临床表现、血清酶学、生化指标、肌肉组织活检及分子生物学等多项检查。

关键词: 线粒体脑肌病, 免疫组织化学, 显微镜检查, 电子, 病理学

Abstract: Objective To investigate the clinical, imaging and pathological characteristics of one case of mitochondrial encephalopathy. Methods  The data of physical examination, electromyopraphy(EMG), cranial CT and MRI, electroencephalography (EEG), serologic examination, and light microscopy and electron microscopy of muscle biopsy specimens of one case of mitochondrial encephalopathy were collected. The related literatures were reviewed. Results  A 52-year-old female patient was admitted with an 8-month of seizures, numbness of the limbs for three times. The clinical manifestations were mainly focal seizures with intelligence disturbance and positive bilateral pyramidal tract sign. The imaging examination was considered to be ischemic stroke and cerebral atrophy. EEG revealed moderate and severe abmormal brain wave. In cerebrospinal fluid (CSF) examination, the intracranial pressure (ICP) was initially 2.01 kPa and finally 1.03 kPa, red blood cell count 1.04 × 10 ⁶/L, white blood cell count 5 × 10 ⁶/L (with an increase in neutrophilic granulocyte proportion), protein 0.70 g/L, chlorides 103.30 mmol/L and IgG 51.90 mg/L. Serum high-sensitivity C-reactive protein (hsCRP) was 15.40 mg/L, and erythrocyte sedimentation rate (ESR) 23 mm/h. Brain biopsy revealed cortical neuron swelling, loss of natural conical shape. The number of capillary increased and astrocytes proliferated reactively. Immunohistochemical examination showed that there were positive Mito granular materials inside the swelling and normal cytoplasm of neurons. The proliferative astrocytes were positive for glial fibrillany acid protein (GFAP). The electronic microscopic examination revealed that a large number of abnormal mitochondria various in shape and size were accumulated between subsarcolemma and myofibrilla. The mitochondrial cristae were flattened or prolonged and twining in concentricity. Osmiophilic bodies and crystalloid inclusion bodies were found in mitochondria. Conclusion  Mitochondrial encephalopathy is a rare disease which may be misdiagnosed as ischemic stroke. The diagnosis of mitochondrial disease must be based upon clinical manifestations and laboratory examinations including serum enzymology, biochemistry, moleculal biochemistry, muscular biopsy, etc.

Key words: Mitochondrial encephalomyopathies, Immunohistochemistry, Microscopy, electron, Pathology