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Original Article
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Korean J Med. 2006;70(2):299-301.
- 증례 : 저칼슘혈증을 통해 발견된 DiGeorge 증후군1예
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김동진
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- Case Reports : DiGeorge syndrome diagnosed by hypocalcemic tetany
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Dong-Jin Kim
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한림의대 한강성심병원 내과
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- Abstract
- 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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