Familial Hypomagnesemia with Secondary Hypocalcemia Mimicking Neurodegenerative Disorder.

Abstract

Familial hypomagnesemia with secondary hypocalcemia is a genetic disorder of magnesium metabolism that presents with refractory seizures in infancy. We herein report an infant with familial hypomagnesemia who presented as medically-refractory seizures and had cerebral atrophy on neuroimaging. Interestingly he had lost previous two siblings because of lack of correct diagnosis. Child was given oral magnesium supplementation and the seizures got controlled. Familial hypomagnesemia should be considered in any child with recurrent or refractory hypocalcemic seizures.