Hayde M, Braun F, Eibl M, Lachmann D, Chott A, Radaszkiewicz T
Padiatr Padol. 1985;20(4):375-80.
Di George syndrome is caused by anomalous development of the organs arising from the third and fourth pharyngeal pouches and results in congenital aplasia of the thymus, aplasia or hypoplasia of the parathyroid glands and cardiovascular malformations. Clinically, affected children show hypoparathyroidism and, because of depressed cell-mediated immunity, serious bacterial, viral and fungal infections. We present an infant, aged 6 weeks, with convulsions due to hypocalcemia, in which cell-mediated immunodeficiency was detected. Additionally diagnostic and therapeutic possibilities in DiGeorge syndrome are shown.
迪乔治综合征是由源于第三和第四咽囊的器官发育异常引起的，导致胸腺先天性发育不全、甲状旁腺发育不全或发育不良以及心血管畸形。临床上，患病儿童表现出甲状旁腺功能减退，并且由于细胞介导的免疫功能低下，会出现严重的细菌、病毒和真菌感染。我们报告一名6周大的婴儿，因低钙血症惊厥，检测到其存在细胞介导的免疫缺陷。此外，还展示了迪乔治综合征的诊断和治疗可能性。
