Familial hypomagnesemia with secondary hypocalcemia mimicking neurodegenerative disorder

Abstract

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

Addressing potential role of magnesium dyshomeostasis to improve treatment efficacy for epilepsy: A reexamination of the literature

“…A TRPM6 gene mutation was discovered to be related to problems in intestinal magnesium absorption and reduced renal reabsorption . These patients present with seizures, tetany, tremors, or restlessness at 2 to 8 weeks of life because of severe hypomagnesemia and secondary hypocalcemia.…”

“…The syndrome leads to lethargy, nystagmus, and convulsions if left untreated, eventually leading to cerebral atrophy and even death. These patients typically respond to magnesium supplementation …”

“…41 A TRPM6 gene mutation was discovered to be related to problems in intestinal magnesium absorption and reduced renal reabsorption. [42][43][44] These patients present with seizures, tetany, tremors, or restlessness at 2 to 8 weeks of life because of severe hypomagnesemia and secondary hypocalcemia. The syndrome leads to lethargy, nystagmus, and convulsions if left untreated, eventually leading to cerebral atrophy and even death.…”

“…These patients typically respond to magnesium supplementation. [42][43][44] Potential Anticonvulsant Effects of Mg þ2 Supplementation As early as 1853, long before the recognition of magnesium as an important intracellular electrolyte, magnesium salts were recommended by the American Family Physician for the treatment of epilepsy 45 :…”

“…Randomized, controlled trials to assess potential therapeutic effectiveness of Mg 2þ supplementation in epilepsy among humans is suggested by the known seizure risk associated with hypomagnesemia in humans, 32,34 as well as the anecdotal clinical evidence and case studies in humans supporting that Mg 2þ supplementation raises seizure threshold in eclampsia 52,53 and reduces seizures resulting from TRPM6 gene mutations. [42][43][44] Moreover, Zou and colleagues found a significantly higher incidence of seizure freedom among patients with infantile seizures following Mg 2þ supplementation along with adrenocorticotropic hormone (ACTH), relative to control participants who received ACTH alone. These studies should control for particle size in addition to molar equivalence in Mg 2þ supplementation because of the demonstrated differences in bioavailability among the various magnesium salts and chelates as reviewed above.…”