A case of hypomagnesemia with secondary hypocalcemia caused by Trpm6 gene mutation

PubMed ID: 18759094An offspring of marriage between two first cousins presented with atonic seizures developed on the 20th 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. © 2008 Dr. K C Chaudhuri Foundation