[Rare combination of dystrophinopathy and Klinefelter's syndrome in one patient].
[Rare combination of dystrophinopathy and Klinefelter's syndrome in one patient].
复制标题
[一名患者罕见同时患有肌营养不良症和克氏综合征]。
DOI：
10.3760/cma.j.issn.0578-1310.2014.07.016
复制
发表时间：
2014
期刊：
影响因子：
--
通讯作者：
Jing Xu
中科院分区：
文献类型：
--
作者：
Manting Xu;F. Fang;Jing Xu
目的
分析1例肌营养不良蛋白病合并克氏综合征（核型47，XXY）患者的临床特征。
方法
患者于2013年3月在北京儿童医院确诊为杜氏肌营养不良症（DMD）和克氏综合征。分析其临床表现、体格检查及实验室检查结果。本文还分析了4例文献报道的病例的临床特点。
结果
这名8.5岁的男孩表现出行走障碍和发育迟缓的症状。患者有面部畸形、蹒跚步态、Gower动作和小腿肥大，血清肌酸激酶水平为21 040 U/L，轻度智力障碍。发现抗肌萎缩蛋白基因第49-54外显子缺失。基因剂量分析显示其母亲存在杂合性缺失。目前已报道5例，年龄3.5 ~ 18岁，其中3例为DMD，2例为Becker型肌营养不良症（BMD）。其中1例在家系调查中发现，与先证者相比，其虚弱程度最小。其他人来医院是因为行走障碍或发育迟缓。所有患者的小腿都增大了，其中一些人还有高尔动作和蹒跚步态。患者身高在第3百分位数至第50百分位数之间，其中2例有面部畸形，通常有一定程度的精神障碍。血清肌酸激酶（CK）为2469 ~ 24750 U/L，其中1例在家系调查中检出。其中3例通过肌肉活检确诊，另1例通过基因突变分析确诊。
结论
肌营养不良蛋白病和Klinefelter综合征的组合是相当罕见的，并具有这两种疾病的临床特征。突变分析（或肌肉活检）和核型分析可以最终诊断综合征。
OBJECTIVE
To analyze clinical characteristics of a combination of dystrophinopathies and Klinefelter's syndrome (karyotype 47, XXY) in one patient.
METHOD
The patient was diagnosed as Duchenne muscular dystrophy (DMD) and Klinefelter's syndrome in Beijing Children's Hospital in March, 2013. The clinical manifestations, physical examinations and laboratory test results were analyzed respectively. The clinical characteristics of four cases reported previously were analyzed as well.
RESULT
The 8.5 years old boy presented with symptoms of walking disorder and developmental delay. The patient had facial dysmorphism, waddling gait, Gower's manoeuvre and enlarged calves.Serum creatine kinase level was 21 040 U/L, and he had mild intellectual impairment. Deletions of exons 49-54 of the dystrophin gene were found.Gene dosage analysis revealed a heterozygous deletion in his mother. Five cases have been reported till now, their age ranged from 3.5 to 18 years; 3 of them were DMD, while the other 2 cases were Becker muscular dystrophy (BMD). One of them, detected in pedigree study, whose weakness was minimal in contrast to the proband. The others came to the hospital because of walking disorder or developmental delay. All the patients had enlarged calves, some of them also had Gower's manoeuvre and waddling gait. The patients' height was between 3 rd and 50 th percentile, while 2 of them had facial dysmorphism.Some degree of mental impairment is usual. Their serum creatine kinase were 2 469-24 750 U/L.One of them was detected in pedigree study. Three of them were diagnosed by muscle biopsy, while in the other one mutation analysis was used.
CONCLUSION
The combination of dystrophinopathies and Klinefelter's syndrome is quite rare, and has clinical features of these two diseases. Mutation analysis (or muscle biopsy) and karyotype analysis can finally diagnose the syndrome.