[Incomplete Digeorge syndrome (author's transl)].
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.
D001344:Autopsy; D004062:DiGeorge Syndrome / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000473:pathology; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000473:pathology*; D007413:Intestinal Mucosa / Q000473:pathology; D008198:Lymph Nodes / Q000473:pathology; D013154:Spleen / Q000473:pathology
Síndrome de Di George incompleto