摘要
目的探讨核黄素反应性脂质沉积性肌病(LSM)的临床、病理及基因突变特征。方法分析两例核黄素反应性LSM患者的临床资料。结果本组两例患者表现为慢性起病的四肢和躯干肌无力,不能耐受疲劳,例2累及吞咽功能,例1累及咀嚼功能。两例肌肉活检发现肌纤维内大量脂肪沉积,未见肌纤维坏死和再生,改良Gomori三色染色、琥珀酸脱氢酶染色未发现线粒体酶活性缺失。两例患者均有2个以上位点突变,有明确临床意义的突变均为ETFDH外显子改变,应用核黄素治疗后两例明显好转。结论本病多累及躯干和四肢肌,表现为肌无力和疲劳不耐受;病理特征为肌肉脂肪沉积,基因突变多为ETFDH改变。核黄素单一治疗对本病有显著疗效。
Objective To explore the clinical, pathological and gene mutation＇ s features of Riboflavin reactive lipid deposition diseaseMethods Retrospective analysis of the clinical data of 2 cases of riboflavin reactive lipid deposition disease .Rseults Both the 2 patients presented with chronic onset of the limbs and trunk muscle weakness and could not tolerate fatigue. The first case is involving the swallowing, the second involving the chewing. Muscle Biopsy study showed markedly increased lipid droplets in muscle fibers. Muscle fiber necrosis and regeneration were not found. Mitoehondrial dysfunction was not detected in modified Gomori trichrome and sueeinate dehydrogenase stains.Both the two patients had 3 or more mutations in the gene of ETFDH. The clear clinical significance of mutations in its exons. Both the two patients had a dramatic response to riboflavin treatment and were improved significantly. Conclusion The disease mostly involving the trunk and limps muscle, manifested as muscle weakness and fatigue intolerance; pathological features presents with lipid deposition in muscle fibers;gene mutation is mostly ETFDH mutations; vitamin B2 monotherapy has a significant effect on the disease.
出处
《脑与神经疾病杂志》
2016年第6期382-385,共4页
Journal of Brain and Nervous Diseases
