Ullrich型先天性肌营养不良的临床特点(附1例报告)
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摘要
目的探讨Ullrich型先天性肌营养不良的临床及病理学特点。方法回顾性分析1例Ullrich型先天性肌营养不良患儿的临床资料,并结合相关文献进行复习。结果患儿自出生起肌张力低下,伴有近端关节挛缩、远端关节弹性过度。生化检查示血磷酸肌酸激酶轻度增高。EMG示肌源性损害(近端肌)肌电改变为主,伴轻度神经源损害(下肢远端肌)。基因二代测序示存在COL6A3基因杂合核苷酸变异,为剪切变异;其父母未见异常。肌肉病理示骨骼肌呈肌营养不良样病理改变。肌肉MRI示双侧小腿及大腿肌肉呈弥漫脂肪浸润伴水肿改变,肌营养不良可能。结论本例患者为杂合子新生突变,是先天性肌营养不良的一个亚型。临床表现以近端关节挛缩、远端关节弹性过度为主要特点。EMG、基因、肌肉病理及肌肉MRI检查有助于本病的诊断。
Objective To investigate the clinical and pathological features of Ullrich congenital muscular dystrophy. Method The clinical data of 1 Ullrich congenital muscular dystrophy patient was analyzed retrospectively. The related literatures were reviewed and analyzed. Results The child was neonatal hypotonia with proximal joint contractures and distal joint hyperlaxity since birth. Biochemical tests showed a mild increase in phosphocreatine kinase. EMG shows myoelectric damage( proximal muscle) with predominantly myoelectric changes,with mild changes in neurogenic damage( lower extremity distal muscles). Next generation sequencing of the gene indicated that there was a variation in the COL6 A3 heterozygous nucleotide sequence,which was a shear mutation.The parents had no abnormality at this locus. Muscle pathology shows muscular dystrophy-like pathological changes in skeletal muscle. Muscular MRI showed diffuse fat infiltration with edema in both the lower leg and thigh muscles,possible muscular dystrophy. Conclusions This case is a heterozygous new mutation,a subtype of congenital muscular dystrophy. It is clinically characterized with proximal joint contractures and distal joint hyperlaxity. EMG,gene,muscle pathology and muscle MRI can help diagnose the disease.
Objective To investigate the clinical and pathological features of Ullrich congenital muscular dystrophy. Method The clinical data of 1 Ullrich congenital muscular dystrophy patient was analyzed retrospectively. The related literatures were reviewed and analyzed. Results The child was neonatal hypotonia with proximal joint contractures and distal joint hyperlaxity since birth. Biochemical tests showed a mild increase in phosphocreatine kinase. EMG shows myoelectric damage( proximal muscle) with predominantly myoelectric changes,with mild changes in neurogenic damage( lower extremity distal muscles). Next generation sequencing of the gene indicated that there was a variation in the COL6 A3 heterozygous nucleotide sequence,which was a shear mutation.The parents had no abnormality at this locus. Muscle pathology shows muscular dystrophy-like pathological changes in skeletal muscle. Muscular MRI showed diffuse fat infiltration with edema in both the lower leg and thigh muscles,possible muscular dystrophy. Conclusions This case is a heterozygous new mutation,a subtype of congenital muscular dystrophy. It is clinically characterized with proximal joint contractures and distal joint hyperlaxity. EMG,gene,muscle pathology and muscle MRI can help diagnose the disease.
引文
[1]朱雯华,ZHAO Chong-bo,卢家红,等.Ullrich型先天性肌营养不良三例临床及病理特点[J].中华神经科杂志,2008,41(8):536-540.
[2]王丽丽,杜婧,傅晓娜,等.先天性肌营养不良的大腿骨骼肌磁共振成像表现与临床关系初步研究[J].中华儿科杂志,2016,54(10):756-760.
[3]Higuchi I,Shiraishi T,Hashiguchi T,et al.Frameshift mutation in the collagenⅥgene causes Ullrich's disease[J].Ann Neurol,2001,50(2):261-265.
[4]Baker NL,M9rgelin M,Peat R,et al.Dominant collagenⅥmutations are a common cause of Ullrich congenital muscular dystrophy[J].Hum Mol Genet,2005,14(2):279-293.
[5]范燕彬,傅晓娜,葛琳,等.先天性肌营养不良的临床表现和产前诊断[J].中华围产医学杂志,2017,20(9):669-678.
[6]Mercuri E,Pichiecchio A,Counsell S,et al.A short protocol for muscle MRI in children with muscular dystrophies[J].Eur J Paediatr Neurol,2002,6(6):305-307.
[7]刘琳琳,杜婧,肖江喜,等.磁共振成像在骨骼肌疾病的临床应用研究进展[J].中华神经科杂志,2014,47(1):49-51.
[8]Mercuri E,Clements E,Offiah A,et al.Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine[J].Ann Neurol,2010,67(2):201-208.
[9]吴希如,林庆.小儿神经系统疾病基础与临床[M].第2版.北京:人民卫生出版社,2009:842.
[2]王丽丽,杜婧,傅晓娜,等.先天性肌营养不良的大腿骨骼肌磁共振成像表现与临床关系初步研究[J].中华儿科杂志,2016,54(10):756-760.
[3]Higuchi I,Shiraishi T,Hashiguchi T,et al.Frameshift mutation in the collagenⅥgene causes Ullrich's disease[J].Ann Neurol,2001,50(2):261-265.
[4]Baker NL,M9rgelin M,Peat R,et al.Dominant collagenⅥmutations are a common cause of Ullrich congenital muscular dystrophy[J].Hum Mol Genet,2005,14(2):279-293.
[5]范燕彬,傅晓娜,葛琳,等.先天性肌营养不良的临床表现和产前诊断[J].中华围产医学杂志,2017,20(9):669-678.
[6]Mercuri E,Pichiecchio A,Counsell S,et al.A short protocol for muscle MRI in children with muscular dystrophies[J].Eur J Paediatr Neurol,2002,6(6):305-307.
[7]刘琳琳,杜婧,肖江喜,等.磁共振成像在骨骼肌疾病的临床应用研究进展[J].中华神经科杂志,2014,47(1):49-51.
[8]Mercuri E,Clements E,Offiah A,et al.Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine[J].Ann Neurol,2010,67(2):201-208.
[9]吴希如,林庆.小儿神经系统疾病基础与临床[M].第2版.北京:人民卫生出版社,2009:842.