Familial Hypomagnesemia with Secondary Hypocalcemia: A Challenging Medical Affair

Familial or genetic hypomagnesemia with secondary hypocalcemia is a disease typically presenting with epilepsy and characterized by low blood levels of magnesium and calcium and metabolic bone disease, and is caused by mutations in the TRPM6 genes. Various factors such as low dietary intake and poor absorption of magnesium in the gut, affect magnesium balance. Hypomagnesemia with secondary hypocalcemia is rare, and therefore there are no large epidemiological studies reflecting the global distribution of these conditions. We report in this article a case of a female infant with a diagnosis of congenital hypomagnesemia with secondary hypocalcemia. In daily clinical practice, one can usually see it in connection with neonates. According to the literature, mutations of TRPM6 account for about 40–50% of hypomagnesemia patients with secondary hypocalcemia.