Pabst H F, Wright W C, LeRiche J, Stiehm E R
Am J Dis Child. 1976 Mar;130(3):316-9. doi: 10.1001/archpedi.1976.02120040094018.
Results of studies on two male infants with incomplete expression of the DiGeorge syndrome are analyzed. Both infants demonstrated neonatal tetany with hypoparathyroidism, cardiovascular anomalies, and absence of a thymus shadow on roentgenographic examination. Some degree of cellular immunity was present in both infants, however, including normal in vitro responses to phytohemagglutinin, thus postponing attempts at thymus transplantation. Both infants died suddenly at home, one at age 7 1/2 weeks and the other at age 44 weeks. At autopsy, no thymus was found in one, and a 2x2-mm thymus was detected after extensive search in the other. These cases emphasize the need for repeated monitoring of all immunologic measurements in the partial DiGeorge syndrome, so that early therapeutic intervention can be undertaken.
对两名不完全表现出迪乔治综合征的男婴的研究结果进行了分析。两名婴儿均表现为新生儿手足搐搦，伴有甲状旁腺功能减退、心血管异常，且X线检查显示无胸腺阴影。然而，两名婴儿均存在一定程度的细胞免疫，包括对植物血凝素的体外反应正常，因此推迟了胸腺移植的尝试。两名婴儿均在家中突然死亡，一名在7.5周龄时死亡，另一名在44周龄时死亡。尸检时，一名婴儿未发现胸腺，另一名婴儿在广泛搜索后发现了一个2×2毫米的胸腺。这些病例强调了对部分迪乔治综合征患者所有免疫指标进行反复监测的必要性，以便能够尽早进行治疗干预。
