KMID : 0882420060700000299
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Korean Journal of Medicine 2006 Volume.70 No. 0 p.299 ~ p.301
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DiGeorge syndrome diagnosed by hypocalcemic tetany
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Kim Dong-Jin
Hyun Young-Youl Choi Hye-Min Lee Ji-Eun Kwon Young-Joo Pyo Heui-Jung Choi Eun-Jung
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Abstract
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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)
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KEYWORD
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Hypocalcemia, Graves¡¯ disease, Hypoparathyroidism, DiGeorge syndrome
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