Familial Hypomagnesemia with Secondary Hypocalcemia

Abstract

Familial hypomagnesemia with secondary hypocalcemia (FHSH) is a rare autosomal recessive disorder of magnesium metabolism. It occurs due to decreased intestinal absorption of magnesium and renal magnesium wasting with secondary parathyroid insufficiency leading to hypocalcemia. If adequate magnesium is not supplemented orally, then children continue to develop recurrent seizures secondary to hypocalcemia that can lead to stagnation of development of milestones and even regression of milestones. As it is customary to look for hypocalcemia in infants with seizures, most pediatricians detect hypocalcemia in these children and treat it symptomatically. Etiological work up of hypocalcemia is usually not done. Many a times hypomagnesemia as a cause of hypocalcemia is missed and even if picked up on investigation, it is not adequately treated because of lack of oral magnesium formulations