Schwartz-Jampel综合征1A型一例临床特点分析  

Clinical Features of One Case of Schwartz-Jampel Syndrome Type 1A

作　　者：黄超[1] 周海涛[1] 任向阳[1] 马聪敏[1] 滕军放[2] 

机构地区：[1]郑州大学附属洛阳中心医院神经内科,河南省洛阳市471000 [2]郑州大学第一附属医院神经内科,河南省郑州市450052

出　　处：《中国全科医学》2017年第18期2271-2273,共3页Chinese General Practice

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.10736T>G(p.Ile3579Ser),73号外显子c.9963C>A(p.Cys3321Ter),77号外显子c.1208G>A(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。Objective To discuss the clinical features of one child patient with Schwartz-Jampel syndrome（SJS） type 1A.Methods From June 15th to August 15th,2016,we did a review of the clinical data of one child patient with SJS type 1A from Luoyang Central Hospital Affiliated to Zhengzhou University.We summarized the patient′s main clinical features,pathological finding of biopsy specimens from the left biceps brachii muscle stained by HE stain,and results of genetic testing.Results The major clinical features of the patient were fixed facial expression,blepharophimosis,difficulty in opening eye,narrowed mouth,difficulty in opening mouth,micrognathia,slightly rigid gait and mildly elevated creatine kinase（CK） levels.Electromyogram（EMG） showed impaired myogenic response and high-frequency myotonic discharges at rest.Muscle biopsy found connective tissue slight proliferation in muscle sleeve,mildly enlarged muscle fiber diameter,a few scattered and grouped old necrotic muscle fibers with inflammatory cells infiltration,the basophilic fibers with hypertrophic nuclei,few splitted fibers and a small number of muscle fibers with nuclei immigrating to the center.The genetic analysis showed that there were compound heterozygous mutations in HSPG2 gene：c.10736T〉G（p.Ile3579Ser） in exon 10,c.9963C〉A（p.Cys3321Ter） in exon 73 and c.1208G〉A（p.Cys403Tyr） in exon 77.Conclusion The diagnosis of SJS type 1A is determined based on the patient′s clinical features,pathological findings of muscle biopsy specimens and results of genetic testing.Special facial changes are the prominent clinical feature,and myodystrophy is the pathological change in muscles.

关 键 词：骨软骨发育不良 肌强直 HSPG2基因 

分 类 号：R681.3[医药卫生—骨科学]