Familial Hypomagnesemia with Secondary Refractory Seizures in a Neonate Born to Consanguineous Parents

Dr. Pazhaniyandi Pillai K

Abstract: We report the case of an 80-day-old male neonate who presented with recurrent seizures since the 35th day of life, refractory to conventional antiepileptics. Genetic testing revealed a homozygous pathogenic variant in the TRPM6 gene, confirming the diagnosis of familial hypomagnesemia with secondary hypocalcemia (HOMG1). The child responded dramatically to magnesium supplementation with seizure freedom for 14 days at follow-up. This case highlights the importance of considering metabolic and genetic causes of neonatal seizures, particularly in consanguineous families, and contributes to the limited global literature on TRPM6-related hypomagnesemia.

Keywords: Refractory seizures, hypomagnesemia, neonatal seizures, hypocalcemia, channelopathy, consanguinity

How to Cite?: Dr. Pazhaniyandi Pillai K, "Familial Hypomagnesemia with Secondary Refractory Seizures in a Neonate Born to Consanguineous Parents", Volume 14 Issue 9, September 2025, International Journal of Science and Research (IJSR), Pages: 484-485, https://www.ijsr.net/getabstract.php?paperid=SR25910133753, DOI: https://dx.doi.org/10.21275/SR25910133753