發(fā)布時(shí)間：2018-07-04 22:48

  本文選題：Jacobsen綜合征 + Paris-Trousseau綜合征��； 參考：《臨床兒科雜志》2017年08期

【摘要】：目的探討Jacobsen綜合征合并Paris-Trousseau綜合征的臨床特征。方法回顧分析1例Jacobsen綜合征合并Paris-Trousseau綜合征患兒的臨床資料,并復(fù)習(xí)相關(guān)文獻(xiàn)。結(jié)果患兒,女,1歲2個(gè)月,發(fā)育落后,能獨(dú)坐,不會(huì)獨(dú)走,四肢肌力可,尖頭,眼距較寬、眼瞼下垂,鼻梁低,眉毛稀疏;語(yǔ)言發(fā)育落后。腦電圖未見異常,MRI示白質(zhì)腦病�；純盒律鷥浩谘“鍦p少。應(yīng)用染色體微陣列芯片分析技術(shù)發(fā)現(xiàn)患兒11q23.3~q25區(qū)域存在缺失,缺失片段的大小為15.7 Mb,該區(qū)域包括Paris-Trousseau綜合征以及Jacobsen綜合征的缺失區(qū)域,患兒確診為Jacobsen綜合征合并Paris-Trousseau綜合征。結(jié)論 Jacobsen綜合征合并Paris-Trousseau綜合征患兒顱面骨畸形,大腦白質(zhì)發(fā)育異常,新生兒期血小板減少,染色體芯片檢測(cè)有助于明確診斷。
[Abstract]:Objective to investigate the clinical features of Jacobsen syndrome with Paris-Trousseau syndrome. Methods A case of Jacobsen syndrome with Paris-Trousseau syndrome was retrospectively analyzed. Results the children were 1 year old and 2 months old, with the ability to sit alone and not walk alone, limb muscle strength, pointed head, wide eye distance, eyelid prolapse, low nose beam, sparse eyebrows, and poor language development. No abnormal MRI showed leukoencephalopathy on electroencephalogram (EEG). Neonatal thrombocytopenia. Chromosomal microarray analysis showed that there were deletions in the 11q23.3~q25 region of children with the size of 15.7 Mb.The region included Paris-Trousseau syndrome and the deletion region of Jacobsen syndrome, and the children were diagnosed as Jacobsen syndrome with Paris-Trousseau syndrome. Conclusion in children with Jacobsen syndrome and Paris-Trousseau syndrome, craniofacial deformity, abnormal white matter development, thrombocytopenia in neonatal stage and chromosome microarray are helpful in diagnosis.
【作者單位】： 武漢市兒童醫(yī)院康復(fù)科;武漢市兒童醫(yī)院中心實(shí)驗(yàn)室;
【分類號(hào)】：R725.9
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本文編號(hào)：2097774