期刊
INDIAN JOURNAL OF PEDIATRICS
卷 75, 期 6, 页码 632-634出版社
SPRINGER INDIA
DOI: 10.1007/s12098-008-0121-7
关键词
magnesium-hypomagnesemia; seizure; hypocalcemia; TRPM6
类别
An offspring of marriage between two first cousins presented with atonic seizures developed on the 20(th) day of life. The physical examination of the case was normal. In laboratory results, Ca+(2) level was 5,7 mg/dl, Mg+(2): 0,4 mg/dl (1,3-2,1), PTH: 28,4 pg/ml (12-92), and P-: 4,5 mg/dl. The case was diagnosed as hypomagnesemia with secondary hypocalcemia (HSH) and TRPM6 gene mutation analysis revealed a homozygote mutation of E157X.
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