Case report reveals neuromuscular symptoms from HSH in an infant, highlighting the importance of TRPM6 genetic testing and magnesium therapy.
A BSTRACT Hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disorder caused by mutations in the TRPM6 gene. This condition leads to impaired magnesium transport, resulting in neuromuscular symptoms such as seizures, tetany, and, in some cases, developmental delays. We report the case of a 4-month-old infant who presented with generalized tonic-clonic seizure and was diagnosed with HSH following genetic testing for TRPM6 mutations. Early intervention with magnesium supplementation proved crucial in correcting the hypocalcemia and preventing further neurological sequelae.
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Sumana et al. (2025) studied this question.
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