DiGeorge syndrome with Graves' disease: A case report

DiGeorge syndrome (DGS) is characterized by aplasia or hypoplasia of the th ymus and parathyroid glands, cardiac defects and anomaly face. This syndrom e 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 lat er. We report a woman who passed with no symptoms before age 18 and was dia gnosed DiGeorge syndrome by tetany with developing auto-immune thyroid dise ase (Graves' disease). She had surgery for intraventricular septal defect a t age 3, hypoparathyroidism, decrease of T cells in peripheral blood and th e deletion of the 22nd chromosome long arm (22q11.2). It is supposed that a bnormalities of immune function of this case are not complete as indicated by complicating of Graves' disease, and contributing to her long-term survi val.