Alvarez Suárez I, Peña Carrión A, Ruiz Villaespesa A, Barrio Castellano R, Fontán G, Gracia R, Ojeda J A
An Esp Pediatr. 1976 Jul-Aug;9(4):453-9.
A newborn with multiple malformations, recurrent infections and hypocalcemic tetany is presented. The malformations included: Facial asymmetry, micrognathia, epicantus, low set nose, peculiar ears, club-feet and heart disease. The immunologic work-up disclosed a cellular immunodeficiency, but normal humoral immunity, and a diagnosis of "incomplete DiGeorge syndrome" was made. No thymus, nor parathyroid glands were found at autopsy. The disagreement between the analytical data and the pathological findings of "complete DiGeorge syndrome" are discussed. The existence of vestigial ectopic thymus not found in the dissected organs is considered the most likely hypothesis. Finally some considerations are made about a possible role of the rubeola virus on its etiology and the actual therapeutic possibilities.
本文报告了一名患有多种畸形、反复感染和低钙性手足搐搦的新生儿。畸形包括:面部不对称、小颌畸形、内眦赘皮、低位鼻、特殊耳、马蹄内翻足和心脏病。免疫检查显示细胞免疫缺陷,但体液免疫正常,诊断为“不完全性迪格奥尔格综合征”。尸检未发现胸腺和甲状旁腺。讨论了分析数据与“完全性迪格奥尔格综合征”病理结果之间的差异。最可能的假说是在解剖的器官中未发现残留的异位胸腺。最后,对风疹病毒在其病因学中的可能作用以及实际治疗可能性进行了一些思考。