Al Kaissi Ali, Ryabykh Sergey, Ochirova Polina, Kenis Vladimir, Hofstätter Jochen G, Grill Franz, Ganger Rudolf, Kircher Susanne Gerit
Hanusch Hospital, Vienna, Austria; Orthopedic Hospital of Speising, Vienna, Austria.
Iliazarov Center, Kurgan, Russian Federation.
J Investig Med High Impact Case Rep. 2017 Jan 1;5(1):2324709616689583. doi: 10.1177/2324709616689583. eCollection 2017 Jan-Mar.
Marked ligamentous hyperlaxity and muscle weakness/wasting associated with awkward gait are the main deficits confused with the diagnosis of myopathy. Seven children (6 boys and 1 girl with an average age of 8 years) were referred to our department because of diverse forms of skeletal abnormalities. No definitive diagnosis was made, and all underwent a series of sophisticated investigations in other institutes in favor of myopathy. We applied our methodology through the clinical and radiographic phenotypes followed by targeted genotypic confirmation. Three children (2 boys and 1 girl) were compatible with the diagnosis of progressive pseudorheumatoid chondrodysplasia. The genetic mutation was correlated with the gene actively expressed by articular chondrocytes and located on chromosome 6. Klinefelter syndrome was the diagnosis in 2 boys. Karyotyping confirmed ,XXY (aneuploidy of Klinefelter syndrome). And 2 boys were finally diagnosed with Morquio syndrome (MPS type IV A) as both showed missense mutations in the N-acetylgalactosamine-sulfate sulfatase gene. Misdiagnosis can lead to the initiation of a long list of sophisticated investigations.
明显的韧带过度松弛以及与步态笨拙相关的肌肉无力/萎缩是与肌病诊断相混淆的主要缺陷。七名儿童（6名男孩和1名女孩，平均年龄8岁）因各种骨骼异常形式被转诊至我科。未做出明确诊断，并且所有人都在其他机构接受了一系列复杂检查，结果均支持肌病诊断。我们通过临床和影像学表型应用我们的方法，随后进行靶向基因确认。三名儿童（2名男孩和1名女孩）符合进行性假类风湿性软骨发育不良的诊断。该基因突变与关节软骨细胞活跃表达且位于6号染色体上的基因相关。2名男孩被诊断为克兰费尔特综合征。核型分析证实为47,XXY（克兰费尔特综合征的非整倍体）。另外2名男孩最终被诊断为莫尔基奥综合征（IV A型黏多糖贮积症），因为两人在N - 乙酰半乳糖胺 - 硫酸酯酶基因中均显示错义突变。误诊可能导致启动一长串复杂的检查。
