本文選題：骨軟骨發(fā)育不良 + 肌強直��； 參考：《中國全科醫(yī)學》2017年18期

【摘要】：目的分析1例Schwartz-Jampel綜合征1A型患兒的臨床特點。方法 2016-06-15至2016-08-15,回顧性分析1例就診于鄭州大學附屬洛陽中心醫(yī)院的Schwartz-Jampel綜合征1A型患兒的臨床資料,總結其主要臨床表現(xiàn)以及肌肉病理染色、基因檢測結果。結果主要臨床表現(xiàn)為面部表情固定,瞼裂狹小,睜眼費力,小口,張口費力,小下頜,步態(tài)略僵硬;肌酸肌酶水平輕度升高;肌電圖提示肌源性損害,靜止時有大量肌強直電位發(fā)放。肌肉病理染色結果顯示肌內(nèi)衣結締組織輕度增生,肌纖維直徑變異輕度加大,少數(shù)散在及成組分布的陳舊壞死肌纖維伴隨炎性細胞浸潤及嗜堿性肌纖維伴隨核肥大,個別分裂肌纖維,少數(shù)肌纖維核內(nèi)移�；驒z測結果顯示患兒HSPG2基因呈復合雜合突變:10號外顯子c.10736TG(p.Ile3579Ser),73號外顯子c.9963CA(p.Cys3321Ter),77號外顯子c.1208GA(p.Cys403Tyr)。結論結合患兒的臨床表現(xiàn)、病理改變特點及基因結果,Schwartz-Jampel綜合征1A型診斷明確。特殊的面部改變是本病最顯著的臨床特點,肌肉病理呈肌營養(yǎng)不良樣改變。
[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.
【作者單位】： 鄭州大學附屬洛陽中心醫(yī)院神經(jīng)內(nèi)科;鄭州大學第一附屬醫(yī)院神經(jīng)內(nèi)科;
【分類號】：R725.9

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