Familial Hypomagnesemia With Secondary Hypocalcemia: A Case Report.

ABSTRACT: Familial hypomagnesemia with secondary hypocalcemia is a rare genetic disorder of magnesium metabolism that presents with refractory seizures during infancy. It is caused by loss-of-function mutations in the gene encoding transient receptor potential cation channel member 6 (TRPM6). Herein we report an infant who presented with refractory seizures that were brought under control by normalizing the magnesium level. Genetic analysis revealed a nonsense variant in the TRPM6 gene. Our case highlights the importance of evaluation for familial hypomagnesemia in any child with recurrent or refractory seizures.

SUBMITTER: Gazzaz N 

PROVIDER: S-EPMC8702611 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature