摘要目的 分析免疫缺陷性疾病DiGeorge综合征(DGS)的病理表现.方法 对5例DGS病死患儿进行尸体解剖并进行组织形态观察,收集临床资料进行分析.结果 5例患儿均为男性,年龄分别为生后4d、1个月、7个月、10个月和13个月,均并发严重的病毒感染而死亡.尸检发现胸腺皮质淋巴细胞缺乏/消失,髓质淋巴细胞稀少,上皮细胞突出,胸腺小体钙化.扁桃体、淋巴结、脾脏和回肠淋巴组织内T细胞缺乏.其中3例患者同时伴甲状旁腺发育不全,先天性室间隔肥厚等.结论 在遇到婴幼儿严重感染时应注重免疫功能检测,应针对淋巴造血系统的异常表现综合分析,确定DGS的诊断.

abstractsObjective To investigate clinicopathological features of DiGeorge syndrome (DGS).Method The clinical features,histological and immunohistochemial findings were analyzed in 5 cases of DGS by autopsy.Results Five cases of DGS in male infants aged 4 days,1 month,7 months,10 months,and 13 months respectively.Gross and microscopic observations revealed that thymic cortex was depleted of lymphocytes or showed few,dispersed lymphocytes.The thymic medulla showed predominately epithelial cells with calcified Hassall bodies as well as lymphocyte depletion.T lymphocytes were also scarce in the tonsils,lymph nodes,spleen,and mucosa-associated lymphatic tissue of ileum.In addition,3 of the 5 patients also showed parathyroid aplasia or dysplasia,and congenital hypertrophy of the ventricular septum.Conclusions The pathological changes indicate that clinicians should be aware of defects of immune system if the infants suffer from severe infections.Pathologists should recognize the importance of abnormalities of lymphohematopoietic tissues in the diagnosis of primary immunodeficiency diseases such as DGS.