Familial Hypomagnesemia with Secondary Hypocalcaemia Due to TRPM6 Gene Mutation in A Pediatric Patient
Abstract
Familial hypomagnesemia with secondary hypocalcemia
(FHSH) is a rare genetic autosomal recessive disorder caused
by mutations in the TRPM6 gene, which encodes for the
receptor which serves as an active channel that transports
Mg2+ and Ca2+ ions. It results in hypomagnesemia and
secondary hypocalcemia. Typical symptoms begin in the
neonatal period with seizures and tetany that are resistant to
antiepileptic medications. This is a treatable condition, and
the treatment involves magnesium and calcium
supplementation. If left untreated, prolonged
hypomagnesemia can lead to long-term disability. Here we
report a case of a 50-day-old term female infant, born to
non-consanguineous parents, who presented with recurrent
generalized seizures starting at 40 days of age.