Portal de Periódicos da CAPES

DiGeorge Syndrome with Graves' Disease. A Case Report.

2000; Japan Endocrine Society; Volume: 47; Issue: 1 Linguagem: Inglês

10.1507/endocrj.47.91

1348-4540

Tomokazu Kawamura, IKUMI NIMURA, Miki Hanafusa, Rumi Fujikawa, Masamichi Okubo, Genshi Egusa, Michio Yamakido,

RNA modifications and cancer

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.