杆状体肌病患儿的临床表现及基因表型分析

Clinical manifestations and genotype analysis of children with baculosome myopathy

目的 探究杆状体肌病患儿的临床表现及基因表型。方法 对我院诊治的1例杆状体肌病患儿临床表现与基因结果进行分析,同时对其家系进行调查,进行全外显子测序,通过生信分析筛选出可疑致病基因并进行Sanger测序验证。结果该例杆状体肌病为同一家系,发病年龄6岁,就诊时出现运动发育落后,肌肉病理均可见到杆状体结构。该例诊治患儿为NEB基因为复合杂合变异,弟弟也为NEB基因为复合杂合变异。患儿基因来源于父亲c.7180C>T与母亲c.21522+3A>G复合杂合变异。肌肉病理和基因是诊断杆状体肌病的重要依据。结论 对发病较早、出生史没有特殊,在面容有异样且在运动发育中明显有落后的患儿,需注意可能患有杆状体肌病,需尽早进行肌肉活检或者基因检测,及时发现并尽早治疗,避免误诊。

Objective To explore the clinical manifestations and genotypes of children with baculosome myopathy.Methods The clinical manifestations and gene results of a child with baculosome myopathy diagnosed and treated in our hospital were analyzed.At the same time,the family was investigated,and whole exome sequencing was performed.Sanger sequencing validation.Results The patient with rod-shaped body myopathy belonged to the same family.The age of onset was 10 years old.The motor development was retarded at the time of consultation,and the rod-shaped body structure could be seen in the muscle pathology.The patient diagnosed and treated was a compound heterozygous variant of the NEB gene,and the younger brother was also a compound heterozygous variant of the NEB gene.The gene of the child was derived from the compound heterozygous variant of c.7180C>T in the father and c.21522+3A>G in the mother.Muscle pathology and genes are important basis for the diagnosis of baculomyopathy.Conclusion For children with early onset,no special birth history,abnormal facial features and obvious backwardness in motor development,attention should be paid to the possibility of NM,muscle biopsy or genetic testing should be performed as soon as possible,and timely detection and early treatment should be performed.Avoid misdiagnosis.