Schwartz-Jampel综合征1A型一例临床特点分析

发布时间：2018-04-27 19:57

本文选题：骨软骨发育不良 + 肌强直　；参考：《中国全科医学》2017年18期

【摘要】：目的分析1例Schwartz-Jampel综合征1A型患儿的临床特点。方法 2016-06-15至2016-08-15,回顾性分析1例就诊于郑州大学附属洛阳中心医院的Schwartz-Jampel综合征1A型患儿的临床资料,总结其主要临床表现以及肌肉病理染色、基因检测结果。结果主要临床表现为面部表情固定,睑裂狭小,睁眼费力,小口,张口费力,小下颌,步态略僵硬;肌酸肌酶水平轻度升高;肌电图提示肌源性损害,静止时有大量肌强直电位发放。肌肉病理染色结果显示肌内衣结缔组织轻度增生,肌纤维直径变异轻度加大,少数散在及成组分布的陈旧坏死肌纤维伴随炎性细胞浸润及嗜碱性肌纤维伴随核肥大,个别分裂肌纤维,少数肌纤维核内移。基因检测结果显示患儿HSPG2基因呈复合杂合突变:10号外显子c.10736TG(p.Ile3579Ser),73号外显子c.9963CA(p.Cys3321Ter),77号外显子c.1208GA(p.Cys403Tyr)。结论结合患儿的临床表现、病理改变特点及基因结果,Schwartz-Jampel综合征1A型诊断明确。特殊的面部改变是本病最显著的临床特点,肌肉病理呈肌营养不良样改变。
[Abstract]:Objective to analyze the clinical features of one case of Schwartz-Jampel syndrome type 1A. Methods A case of Schwartz-Jampel syndrome 1A in Luoyang Central Hospital affiliated to Zhengzhou University was retrospectively analyzed from June 2006 to August 15, 2016-06-15. The main clinical manifestations, muscle pathological staining and gene detection results were summarized. Results the main clinical manifestations were fixed facial expression, narrow eyelid fissure, laborious opening of eyes, small mouth, laborious opening of mouth, small mandible, slightly stiff gait, slight elevation of creatine muscle enzyme level, myogenic damage indicated by electromyography, A large number of myotonic potentials are released at rest. The results of muscle pathological staining showed that the connective tissue of underwear was slightly proliferated, the diameters of muscle fibers increased slightly, a few old necrotic fibers were scattered and distributed in groups with inflammatory cell infiltration and basophilic muscle fibers associated with nuclear hypertrophy. A few of the mitotic fibers and a few of the myofibrous nuclei moved in. The results of gene analysis showed that the HSPG2 gene was heterozygous: exon 10, exon 3, exon c. 9963CAp.Cys3321 Tera, exon 77, exon c. 1208GAp.Cys403Tyr. Conclusion the diagnosis of Schwartz-Jampel syndrome type 1A is definite in combination with the clinical manifestations, pathological features and genetic results. Special facial changes are the most significant clinical features of the disease, muscle pathology shows muscular dystrophy.
【作者单位】：郑州大学附属洛阳中心医院神经内科;郑州大学第一附属医院神经内科;
【分类号】：R725.9

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