本文選題：先天性肌營養(yǎng)不良 + 臨床特點(diǎn)�。� 參考：《臨床兒科雜志》2017年05期

【摘要】：目的報(bào)道1例LAMA2基因變異導(dǎo)致先天性肌營養(yǎng)不良的臨床、實(shí)驗(yàn)室檢查及遺傳學(xué)特點(diǎn)。方法回顧分析1例先天性肌營養(yǎng)不良1A型患兒的臨床資料,并復(fù)習(xí)相關(guān)文獻(xiàn)。結(jié)果患兒,男,5歲2個(gè)月,臨床表現(xiàn)為運(yùn)動(dòng)發(fā)育落后,2歲時(shí)可獨(dú)坐,不能獨(dú)走;肌力及肌張力低下,早期出現(xiàn)關(guān)節(jié)攣縮。生化檢測(cè)發(fā)現(xiàn)肌酸激酶(CK)升高(491 U/L),其同工酶CK-MB升高(41.8 U/L);肌電圖提示肌源性損害可能;頭顱MRI提示大腦白質(zhì)異常信號(hào)。基因檢測(cè)發(fā)現(xiàn)LAMA2存在復(fù)雜雜合突變,c.2045-2046del AG雜合缺失,來自母親,為已報(bào)道的致病變異;exon5存在雜合缺失,來自父親,為未報(bào)道的新變異,軟件功能預(yù)測(cè)提示為致病性變異。結(jié)論 LAMA2基因變異導(dǎo)致先天性肌營養(yǎng)不良,患兒以運(yùn)動(dòng)發(fā)育落后起病,CK升高,高通量基因檢測(cè)有助于明確診斷。
[Abstract]:Objective to report the clinical, laboratory and genetic features of congenital muscular dystrophy caused by LAMA2 gene mutation. Methods A case of congenital muscular dystrophy type 1A was retrospectively analyzed and related literature was reviewed. Results the children were 5 years old and 2 months old. The clinical manifestation was that they could sit alone and not walk alone at the age of 2 years old, the muscle strength and muscle tension were low, and the joint contracture appeared in the early stage. Biochemical examination showed that creatine kinase (CK) increased by 491U / L, and its isoenzyme CK-MB increased by 41.8U / L; electromyogram indicated that myogenic damage might occur; and MRI of the head indicated abnormal signal in the white matter of the brain. Gene analysis showed that LAMA2 had complex heterozygous mutation, I. e. 2045-2046del AG heterozygosity deletion, from mother, heterozygosity deletion from reported pathogenicity mutation exon5, from father, new mutation not reported, and software function prediction indicated pathogenicity mutation. Conclusion LAMA2 gene mutation may lead to congenital muscular dystrophy and increase CK in children with dystrophy. High throughput gene detection is helpful for diagnosis.
【作者單位】： 單縣海吉亞醫(yī)院兒科;
【分類號(hào)】：R746.2

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