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Chromosome 22q11.2 deletion syndrome(DiGeorge syndrome) is relatively common genetic anomaly, affecting, approximately 1 in 4000 births. The manifestation of this syndrome involves many organ system, typically consisting of conotruncal cardiac anomalities, hypoparathyroidism, developmental delay, and immunodeficiency. A 18 aged old woman came to hospital due to a seizure 2 month ago at the school. The laboratory examination showed hypocalcemia (ionized Ca 3.24 mg/dL), hypomagnesimia (1.25 mEq/L), hypoparathyroidism (iPTH 20.4 (12-72)), and hyperthyroidism (TSH 0.01uIU/mL (0.17-4.05), Free T4 2.97 ng/mL (0.78-1.70)). We diagnosed as DiGeorge syndrome with chromosomal study, by suspicion of the syndrome. She didn't have any congenital anomality. Now, she has no more seizure episode and tingling sensation with the medication of PTU, propranolol,calcium, vitamin D and IV magnesium.(Korean J Med 70:S299-S301, 2006)
Key Words : Hypocalcemia, Graves' disease, Hypoparathyroidism, DiGeorge syndrome |
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