Emery-Dreifuss肌营养不良2型1例病例分析并文献复习  

Emery-Dreifuss Muscular Dystrophy 2: One Case Report and Literature Review

作　　者：蔡爽[1] 朱雯华[1] 王蓓[2] 李劲[3] 付建辉[1] 汪寅[4] 赵重波[1] 卢家红[1] 

机构地区：[1]复旦大学附属华山医院神经内科,200040 [2]上海市静安区中心医院神经内科,200040 [3]上海市静安区中心医院影像科,200040 [4]复旦大学附属华山医院神经病理室,200040

出　　处：《中国临床神经科学》2014年第2期176-185,共10页Chinese Journal of Clinical Neurosciences

摘　　要：目的探讨Emery-Dreifuss肌营养不良2型(EDMD2)的临床表型、基因型及肌肉影像学特点。方法收集1例EDMD2患者的临床表现、肌肉MRI、肌肉病理资料,并检测患者及其母亲LMNA基因,结合文献对EDMD2的表型和肌肉MRI特点进行分析。结果患者LMNA基因检测示c.1583C>G杂合错义突变,具有EDMD的典型表现(房性早搏和短阵房速的心脏受累、强直脊柱、跟腱挛缩)和不典型表现(中轴-近端分布的肌无力、无肘关节挛缩)。本病例及既往报道带有同样基因突变的共计8例患者分析表明,各病例在关节挛缩、肌无力的分布、心脏受累方面表现各异;本例患者肌肉MRI表现为股中间肌、大收肌和长收肌、比目鱼肌、腓肠肌内侧头选择性受累,与既往报道的EDMD2肌肉MRI特点一致。结论 EDMD2的基因型与表型关系尚不清楚,可能存在其他影响表型的遗传和非遗传因素;肌肉MRI可以为EDMD2的诊断和鉴别诊断提供重要线索。Aim To investigate the phenotype, genotype and muscle imaging of Emery-Dreifuss muscular dystrophy 2 （EDMD2）. Methods Genetic analysis were carried out on an EDMD2 patient and her mother. The clinical manifestation, muscle imaging and pathology of the genetically defined EDMD2 patient were presented, with detailed literature review of EDMD2 phenotype and muscle magnetic resonance imaging （MRI） features. Results The patient carried a heterogenous LMNA gene missense mutation c. 1583C〉G, presenting with typical features of EDMD2 （rigid spine, achilles tendon contractures, cardiac involvement with atrial premature beats and non-sustained atrial tachycardia） along with atypical ones （weakness of axial-proximal muscles and the absence of elbow contractures）. Review of the 8 cases with the identical mutation revealed variation in phenotype concerning joint contractures, muscle weakness pattern and cardiac involvement. Muscle MR/showed selective involvement of vastus intermedius, adductor magnus, adductor longus, musculus soleus and medial gastrocnemius, which accorded with previous reports. Conclusion The phenotype-genotype correlation of EDMD2 is unclear, implying the underlying influences of other genetic or non-genetic factors. Muscle MRI can provide important clues in the diagnosis and differentiation of EDMD2.

关 键 词：Emery-Dreifuss肌营养不良2型 LMNA基因 核磁共振 

分 类 号：R746.2[医药卫生—神经病学与精神病学]