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

One case report of Jacobsen syndrome combine with Paris-Trousseau syndrome

作　　者：林俊[1] 陈小红[1] 赵培伟[2] 黄玉凤[2] 毕博[1] 何学莲[2] LIN Jun;CHEN Xiaohong;ZHAO Peiwei;HUANG Yufeng;BI Bo;HE Xuelian(Department of Rehibilitation,Wuhan Children’s Hospital, Wuhan 430016, Hubei, China;Clinical Research Center, Wuhan Children’s Hospital, Wuhan 430016, Hubei, China)

机构地区：[1]武汉市儿童医院康复科,湖北武汉430016 [2]武汉市儿童医院中心实验室,湖北武汉430016

出　　处：《临床儿科杂志》2017年第8期613-615,共3页Journal of Clinical Pediatrics

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。Objective To investigate the clinical features of a patient diagnosed with Jacobsen syndrome(JBS)and Paris-Trousseau syndrome(PTS)using chromosomal microarray analysis.Method A retrospective analysis including the patients’clinical manifestations,laboratory examination and genetic analysis was carried out and related literature were reviewed.ResultsA14month-old girl with global development retardation was reported.The patient can sit but cannot walk independently.Thepatient also presented hypsicephaly,ocular hypertelorism,palpebral ptosis,flat nasal bridge,sparse eyebrows,and speech delay.Gesell development scale showed that the patient was global development retarded with a development level of40weeks.No obvious abnormality was found in EEG but the MRI showed cerebral white matter abnormality.This patient was also diagnosedwith neonatal thrombocytopenia in other hospital.Genomic CNVs were detected in this girl,and a15.7Mb loss was found inthe11q23.3q25region that covers JBS and PTS region.Conclusions Patient diagnosed with JBS and PTS often present withcraniofacial abnormalities,cerebral white matter abnormality and neonatal thrombocytopenia.Chromosomal microarray analysiscan help diagnosis.

关 键 词：Jacobsen综合征 Paris-Trousseau综合征 表型 

分 类 号：R725.9[医药卫生—儿科]