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  • Title: Familial Hypomagnesemia with Secondary Hypocalcemia Mimicking Neurodegenerative Disorder.
    Author: Kamate M, Singh N, Patil S.
    Journal: Indian Pediatr; 2015 Jun; 52(6):521-2. PubMed ID: 26121732.
    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.
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