Ramos Artana M, Orea Solano M, Flores Sandoval G
Hospital Regional Licenciado Adolfo López Mateos, ISSSTE, México.
Rev Alerg Mex. 1993 Nov-Dec;40(6):145-9.
DiGeorge Syndrome is a congenital immunodeficiency characterized clinically by hypocalcemic tetany, congenital heart disease, unusual facies, and increased susceptibility to infection. Pathologically, the syndrome is marked by the abscence or hipoplasia of the thymus and parathyroid glands as well as cardiac or aortic arch abnormalities. Most patients show partial or complete T cell immunodeficiency and normal or near-normal B-cell immunity. A review is made on a clinical case of DiGeorge syndrome is presented. A 52 days old boy, was admitted through emergency. There was no familial evidence of alcoholism or immunodeficiency. He showed irritability due to hypocalcemia. The examination revealed facial and cardiovascular abnormalities and the immunological investigation revealed hypogammaglobulinemia, deficiency of the cell, CD4 and CD8 decreased and with inverted relation. Chest X ray showed cardiomegaly grade II, and no thymus was seen. The diagnosis of the complete DiGeorge syndrome was based on the abnormalities found.
迪乔治综合征是一种先天性免疫缺陷病，临床特征为低钙血症性手足搐搦、先天性心脏病、特殊面容以及易感染。病理上，该综合征的特征是胸腺和甲状旁腺缺如或发育不全以及心脏或主动脉弓异常。大多数患者表现为部分或完全性T细胞免疫缺陷，B细胞免疫正常或接近正常。本文报道了一例迪乔治综合征的临床病例。一名52日龄男婴急诊入院。无酗酒或免疫缺陷的家族史。他因低钙血症而烦躁不安。检查发现面部和心血管异常，免疫学检查显示低丙种球蛋白血症、细胞缺乏、CD4和CD8降低且呈倒置关系。胸部X线显示心脏肿大II级，未见胸腺。根据所发现的异常做出了完全性迪乔治综合征的诊断。
