Familial Hypomagnesemia with Secondary Hypocalcemia Mimicking Neurodegenerative Disorder

Abstract

Background: Familial hypomagnesemia with secondary hypocalcemia is a genetic disorder of magnesium metabolism that presents with refractory seizures in infancy.

Case characteristics: 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.

Intervention: Child was given oral magnesium supplementation and the seizures got controlled.

Message: Familial hypomagnesemia should be considered in any child with recurrent or refractory hypocalcemic seizures.