Familial hypomagnesemia with secondary hypocalcemia: a novel TRPM6 mutation associated with treatment-resistant migraine in a North African family.
Perini Maria Paola, Cutillo Gianni, Micaglio Emanuele et al.
✦ AI-curated · Sources linked
Case in brief
An 18-year-old woman from a consanguineous Moroccan family presented with lifelong hypomagnesemia and a severe migraine attack accompanied by paresthesias and muscle cramps. Laboratory tests revealed significant hypomagnesemia and hypocalcemia. While oral magnesium supplementation was ineffective, intravenous magnesium resulted in rapid clinical and biochemical improvement. Genetic testing identified a novel TRPM6 mutation linked to her condition.
What made this case unusual
The case highlights a potential association between TRPM6-related hypomagnesemia and treatment-resistant migraine, which is not commonly characterized in the literature.
Diagnostic / clinical pearl
Clinicians should consider the possibility of magnesium deficiency in patients with severe migraines, especially in the context of familial hypomagnesemia.
Why it matters
Understanding the neurological manifestations of TRPM6 mutations may enhance recognition and management of similar cases, potentially improving patient outcomes.