Familial Hypomagnesemia with Secondary Hypocalcaemia Due to TRPM6 Gene Mutation in A Pediatric Patient

Authors

  • Bikush Chandra Paul Assistant Professor, Paediatric Neurology, Institute of Paediatric Neurodisorder & Autism, Bangladesh Medical University, Dhaka, Bangladesh
  • Zannatul Ferdouse Assistant Professor, Department of Pediatric Neurology, Institute of Paediatric Neurodisorder & Autism, Bangladesh Medical University, Dhaka, Bangladesh
  • Sanjida Ahmed Assistant Professor, Department of Pediatric Neurology, Institute of Paediatric Neurodisorder & Autism, Bangladesh Medical University, Dhaka, Bangladesh
  • Noor A Sabah Liza Consultant Pediatrics, Sir Salimullah Medical College & Mitford Hospital, Dhaka, Bangladesh
  • Mohon Poddar Assistant Professor, Department of Pediatrics, Faridpur Medical College, Bangladesh
  • Umme Habiba Medical Officer DGHS, Mohakhali, Dhaka, Bangladesh

DOI:

https://doi.org/10.3329/jbcps.v44i2.89348

Keywords:

TRPM6 mutation, hypomagnesemia, hypocalcemia, neonatal seizure

Abstract

Familial hypomagnesemia with secondary hypocalcemia (FHSH) is a rare genetic autosomal recessive disorder caused by mutations in the TRPM6 gene, which encodes for the receptor which serves as an active channel that transports Mg2+ and Ca2+ ions. It results in hypomagnesemia and secondary hypocalcemia. Typical symptoms begin in the neonatal period with seizures and tetany that are resistant to antiepileptic medications. This is a treatable condition, and the treatment involves magnesium and calcium supplementation. If left untreated, prolonged hypomagnesemia can lead to long-term disability. Here we report a case of a 50-day-old term female infant, born to non-consanguineous parents, who presented with recurrent generalized seizures starting at 40 days of age. Initial evaluation revealed severe hypocalcemia with persistent seizures despite calcium and antiepileptic therapy. Further workup showed marked hypomagnesemia with hyperphosphatemia. Seizures responded only after magnesium supplementation. Genetic testing confirmed a TRPM6 gene mutation, establishing the diagnosis of primary hypomagnesemia with secondary hypocalcemia. The patient achieved complete seizure control and normal milestones of development with appropriate magnesium replacement therapy.

J Bangladesh Coll Phys Surg 2026; 44: 135-137

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Published

2026-04-30

How to Cite

Paul, B. C., Ferdouse, Z., Ahmed, S., Liza, N. A. S., Poddar, M., & Habiba, U. (2026). Familial Hypomagnesemia with Secondary Hypocalcaemia Due to TRPM6 Gene Mutation in A Pediatric Patient. Journal of Bangladesh College of Physicians and Surgeons, 44(2), 135–137. https://doi.org/10.3329/jbcps.v44i2.89348

Issue

Vol. 44 No. 2 (2026)

Section

Case Reports

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