Indian pediatrics · 2015
Familial Hypomagnesemia with Secondary Hypocalcemia Mimicking Neurodegenerative Disorder.
СтатьяНазвание и аннотация: Перевод в очереди
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Kamate Mahesh, Singh Neha, Patil Supriya
Аннотация
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.
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.