Hereditary hypomagnesemia with secondary hypocalcemia caused by a novel mutation in TRPM6 gene.
İpek Dokurel ÇetinHamide Betül Gerik-ÇelebiMeliha DemiralOrkun ÇetinPublished in: Journal of pediatric endocrinology & metabolism : JPEM (2023)
HSH often presents with developmental issues, treatment-resistant seizures, and increased neuromuscular excitability. Untreated hypomagnesemia can potentially be fatal and severely impair cognitive function. Clinical suspicion is essential for early diagnosis and treatment.