线粒体脑肌病合并脂质沉积性肌病1例报告并文献复习

目的 探讨线粒体脑肌病和肉毒碱缺乏的关系.方法 报道1例合并脂质沉积性肌病的线粒体脑肌病患者的临床和病理特点,并复习相关文献.结果 患者主要表现为癫痫大发作和四肢无力,激素治疗效果好.肌肉病理改变特点是许多肌纤维内可见细小空泡,被脂滴填充和较多不典型破碎红纤维(RRF).电镜下见大量脂肪滴,呈串珠样和片状分布;并出现线粒体增多和结构异常,可见嗜锇小体的形成.结论 此患者可以诊断为线粒体脑肌病合并脂质沉积性肌病,其发病机制可能是线粒体呼吸链的氧化缺陷使脂酰辅酶A过度聚集,导致继发性肉毒碱的缺陷.

Mitochondrial encephalomyopathy combined With lipid storage myopathy:1 case report with literature review

Objective To describe the clinical and pathological features of a patient mitochondrial encephalomyopathy combined with lipid storage myopathy.The relationship of mitochondrial encephalomyopathy and carnitine deficiency is explored.Methods First we collect the patient's clinical information and results of accessory examinations.were collected.Biceps biopsy was done and the histology,histochemistry of enzymes and observe the changes of ultrastructures were carried out.Results Clonic-tonic epilepsy and weakness of limbs were the main clinical features of the patient.The pathological features of bicep showed there were many fibers containing numerous vacuoles which were stained by oil red O and atypical ragged-red fibers.In electronmicroscopy,the prominent abnormality was the presence of many lipid droplets.In longitudinal sections,they presented as parallel rows.Some muscle fibers contained mitochondria that were found in some muscle fibers that were various in size and shape and Osmiophilic globuli could be seen.Conclusions This patient is diagnosed as mitochondrial encephalomyopathy combined with lipid storage myopathy.Excessive accumulation of acyl-coenzyme A which lead to carnitne deficiency is suggested to be the pathogenic process.