Clinical and MRI Analysis of Merosin-Deficient Congenital Muscular Dystrophy Type 1A

作者: 何展文 , 罗向阳 , 梁立阳 , 李平甘 , 岑丹阳 , 李栋方 , 孟哲 :中山大学孙逸仙纪念医院儿童神经内分泌专科;

关键词: Merosin缺陷性先天性肌营养不良层粘连蛋白α2MRI脑白质Merosin-Deficient Congenital Muscular Dystrophy Type 1A Laminin Alpha-2 MRI White Matter

摘要: 目的:探讨Merosin缺陷性先天性肌营养不良的临床特征和头颅MRI特点。方法:通过回顾性分析我国报道Merosin缺陷性先天性肌营养不良临床资料,总结Merosin缺陷性先天性肌营养不良的临床特征和MRI特点。结果:8Merosin缺陷性先天性肌营养不良,男4例,女4例。发病年龄都在出生后6个月内,主要临床表现为运动发育迟缓,肌无力,无眼部病变。肌酸肌酶(CK)显著升高。肌电图检查示肌源性损害。肌肉免疫组化示merosin染色阴性,αβ抗肌萎缩相关糖蛋白染色阳性。8例患儿头颅MRI检查示双侧大脑半球白质对称性异常信号,呈T1低信号,T2呈高信号。结论:Merosin缺陷性先天性肌营养不良主要根据先天性肌张力低下、肌无力临床表现,CK显著升高,脑白质异常信号和肌肉活检免疫组化merosin染色阴性明确诊断。

Abstract: Objective: To explore the clinical and MRI features of Merosin-deficient congenital muscular dystrophy type 1A(MDC1A). Methods: The data of clinic and MRI of MDC1A(n = 8) reported in china were analyzed retrospectively. Results: Of the 8 cases, there were four males and four females. All cases presented with motor development retardation, muscular weakness and severe hypotonia within the first 6 months since birth, but without eye abnormalities. The levels of serum creatine kinase (CK) were elevated markedly. Electromyography suggested a myogenic damage process. Immunohistochemical studies of muscle biopsies for merosin were negative, and the ones for alpha, beta-dystroglycan were positive. The main MRI findings of MDC1A(n = 8) were observed as follows: symmetrical white matter abnormalities with hyperintensity on MRI T2 weighted and hypointensity on MRI T1 weighted. Conclusion: The diagnosis of MDC1Ais based on the clinical findings of severe congenital hypotonia, weakness with high blood levels of creatine kinase, white matter abnormalities, and dystrophy associated with negative immunostaining of biopsied muscle for merosin.

文章引用: 何展文 , 罗向阳 , 梁立阳 , 李平甘 , 岑丹阳 , 李栋方 , 孟哲 (2013) Merosin缺陷性先天性肌营养不良的临床特征及其MRI特点(附1例报道)。 亚洲儿科病例研究, 1, 1-5. doi: 10.12677/ACRP.2013.11001


[1] V. Allamand, P. Guicheney. Merosin-deficient congenital muscular dystrophy, autosomal recessive. European Journal of Human Genetics, 2002, 10(2): 91-94.

[2] 刘建军, 沈定国. 先天性肌营养不良合并脑白质营养不良附1例报道[J]. 罕少疾病杂志, 2010, 17(1): 50-51.

[3] 朱雯华, 赵重波, 林洁等. 先天性肌营养不良1A型的临床表现和病理改变(附1例报道)[J]. 中国临床神经科学, 2008, 16(5): 504-508.

[4] 熊晖, 姚生, 袁云等. 先天性肌营养不良的诊断及层黏连蛋白表达的意义[J]. 中华儿科杂志, 2006, 44(12): 918-923.

[5] S. Sparks, S. Quijano-Roy, A. Harper, et al. Congenital muscular dystrophy overview. Gene Reviews, 1993-2001.

[6] R. Vuolteenaho, M. Nissinen, K. Sainio, et al. Human laminin M chain (merosin): Complete primary structure, chromosomal as- signment, and expression of the M and A chain in human fetal tissues. Journal of Cell Biology, 1994, 124(3): 381-394.

[7] C. C. Leite, U. C. Reed, M. C. Otaduy, et al. Congenital muscu- lar dystrophy with merosin deficiency: 1H MR spectroscopy and diffusion-weighted MR imaging. Radiology, 2005, 235(1): 190- 196.

[8] H. J. Gilhuis, H. J. ten Donkelaar, R. B. Tanke, et al. Nonmus- cular involvement in merosin-negative congenital muscular dys- trophy. Pediatric Neurology, 2002, 26(1): 30-36.

[9] T. Chahnez, L. Nacim, M. Me’riam, et al. Merosin-deficient congenital muscular dystrophy with mental retardation and cere- bellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B Loci, in three tunisian patients. Neuromuscular Disorders, 2003, 13(1): 4-16.

[10] U. C. Reed. Congenital muscular dystrophy. Part I: A review of phenotypical and diagnostic aspects. Arquivos de Neuro-psi- quiatria, 2009, 67(1): 144-168.