【作者】 刘步珍；

【导师】 焉传祝；

【作者基本信息】 山东大学 ， 神经病学， 2008， 硕士

【摘要】 目的:探讨核黄素反应性脂质沉积性肌病的临床、病理和生化特征,以及血尿生化指标和临床表现型间的关系。方法:19例患者为山东大学齐鲁医院神经肌肉病研究室病例,根据患者的临床、肌肉病理确诊。取患者尿、血标本分别行有机酸分析和脂酰肉碱分析,同时回顾性分析核黄素反应性LSM患者的临床特征和病理表现。结果:1.临床特点:亚急性起病的四肢近端和躯干肌无力,不能耐受疲劳。16例患者有颈肌无力,14例有明显的咀嚼肌无力。17例患者血清磷酸激酶(CK)轻度至中度升高。所有患者核黄素治疗均有显著效果。2.肌肉病理特点:光镜下19例患者的肌纤维内均出现大量脂滴沉积,以Ⅰ型纤维为主。3例患者SDH酶活性缺失,3例患者MGT染色可见红纤维。3.生化特点:13例患者发作期尿有机酸分析示11例戊二酸尿症Ⅱ型,19例患者血酰基肉碱分析示17例符合多种酰基辅酶A脱氢缺陷(MADD)。结论:本病多以四肢近端、颈肌、脊旁肌和咀嚼肌受累为主要表现,病理特征为肌纤维内大量脂肪沉积,核黄素单药治疗对本病有显著疗效。19例患者中17例生化分析支持MADD,表明MADD为我国RR-LSM患者主要病理机制。更多还原

【Abstract】 Objective:To clarify the clinical,pathological and biological features of riboflavin responsive lipid storage myopathy(RR-LSM).Methods:The clinical data and therapeutic effects of 19 LSM patients were summarize retrospectively.The clinical and pathological presentation confirmed RR-LSM definitely.All patients were subjected to urine oganic acids analysis and bloo acyl-camitine profile.Results:1.clinical data:All patients were subacute onset.The proximal and trunk muscle weakness were the most common clinical features and exercise intolerance was also noticeable.Neck muscles Weakness were found in 16 cases,and chewing muscles were involved in 14 cases.17 patients displayed elevated plasma creatine kinase(CK) from sevral folds to 20 folds.All patients showed marked and quick improvement of symptoms after riboflavin therapy(15-150mg).2.pathological feature: Muscle Biopsy study showed marked increased lipid droplets in muscle fibers, predominantly in typeⅠfibers.On SDH,diffuse decreased activity of enzymatic activity was found in 3 patients.On MGT,several ragged red fibers(RRFs) were seen in 3 patients.3.biological results:Urine analysis revealed that 11 out of 13 samples collected during crisis were glutaric aciduria typeⅡ(GAⅡ),and blood acyl-camitine profile indicated that 17 out of 19 patients were multiple acyl-CoA dehydrogenation deficiency(MADD).Conclusions:LSM is characterized by preferential involvement of neck and trunck muscles. The distinct pathological feature is lipid accumulation in muscle fibers.Our data suggest that MADD(Glutaric aciduria typeⅡ) should take responsibility for our 17 LSM patients who are responsive to riboflavin,indicating RR-LSM is mainly due to MADD.更多还原