DiGeorge syndrome with Graves' disease: A case report.
DiGeorge syndrome (DGS) is characterized by aplasia or hypoplasia of the thymus and parathyroid glands, cardiac defects and anomaly face. This syndrome is usually associated with hypocalcemia resulting from hypoparathyroidism. In most cases the initial symptom is tetany caused by hypocalcemia within 24-48 hours after birth, with symptoms by immune abnormality appearing later. We report a woman who passed with no symptoms before age 18 and was diagnosed DiGeorge syndrome by tetany with developing auto-immune thyroid disease (Graves' disease). She had surgery for intraventricular septal defect at age 3, hypoparathyroidism, decrease of T cells in peripheral blood and the deletion of the 22nd chromosome long arm (22q11.2). It is supposed that abnormalities of immune function of this case are not complete as indicated by complicating of Graves' disease, and contributing to her long-term survival.
Kawamura
T
T
Second Department of Internal Medicine, Hiroshima University School of Medicine, Japan.
Nimura
I
I
Hanafusa
M
M
Fujikawa
R
R
Okubo
M
M
Egusa
G
G
Amakido
M
M
D000293:Adolescent; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004062:DiGeorge Syndrome / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D005260:Female; D017353:Gene Deletion; D006111:Graves Disease / Q000150:complications*; D006345:Heart Septal Defects, Ventricular / Q000150:complications; D006801:Humans; D007011:Hypoparathyroidism / Q000150:complications; D009119:Muscle Contraction