Jacobsen综合征合并Paris-Trousseau综合征1例报告并文献复习

发布时间：2018-07-04 22:48

  本文选题：Jacobsen综合征 + Paris-Trousseau综合征　； 参考：《临床儿科杂志》2017年08期

【摘要】：目的探讨Jacobsen综合征合并Paris-Trousseau综合征的临床特征。方法回顾分析1例Jacobsen综合征合并Paris-Trousseau综合征患儿的临床资料,并复习相关文献。结果患儿,女,1岁2个月,发育落后,能独坐,不会独走,四肢肌力可,尖头,眼距较宽、眼睑下垂,鼻梁低,眉毛稀疏;语言发育落后。脑电图未见异常,MRI示白质脑病。患儿新生儿期血小板减少。应用染色体微阵列芯片分析技术发现患儿11q23.3~q25区域存在缺失,缺失片段的大小为15.7 Mb,该区域包括Paris-Trousseau综合征以及Jacobsen综合征的缺失区域,患儿确诊为Jacobsen综合征合并Paris-Trousseau综合征。结论 Jacobsen综合征合并Paris-Trousseau综合征患儿颅面骨畸形,大脑白质发育异常,新生儿期血小板减少,染色体芯片检测有助于明确诊断。
[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.
【作者单位】： 武汉市儿童医院康复科;武汉市儿童医院中心实验室;
【分类号】：R725.9
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本文编号：2097774