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Familial hypomagnesemia with hypocalcemia: a rare cause of infantile seizures

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Abstract

Magnesium is one of the most abundant electrolytes in the human body but is often forgotten when it comes to the evaluation of an infant presenting with hypocalcemia. Its deficiency can present as neurological, cardiac and skeletal symptoms. Familial hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive genetic disease caused by a transient receptor potential melastatin 6 gene pathogenic variant (TRMP6). The underlying defect lies in the intestinal absorption of magnesium. A delay in diagnosis and lack of timely initiation of treatment can lead to long term irreversible neurological complications and even death. We describe a case of an infant presenting with seizures and severe hypomagnesemia and hypocalcemia. Genetic analysis subsequently identified the abnormality as a frameshift mutation in the TRMP6 gene confirming the diagnosis of Familial hypomagnesemia with secondary hypocalcemia. With fewer than a hundred cases reported in the literature, we aim to highlight the importance of early diagnosis and treatment initiation and create a deeper understanding of the disease.

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Acknowledgements

The authors acknowledge MEDGENOME Laboratories for carrying out sanger sequencing on the patient’s DNA sample.

Funding

No funding was obtained for this case report.

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Authors and Affiliations

  1. Department of Pediatrics, St. Johns Medical College Hospital, Bengaluru, Karnataka, 560034, India

    Ranjini Srinivasan & Sushma Krishna

  2. St. John’s Medical College Hospital, Bengaluru, Karnataka, 560034, India

    Anushka Catherine Ninama

  3. Department of Pediatric Nephrology, St. John’s Medical College Hospital, Bengaluru, Karnataka, 560034, India

    Anil Vasudevan

Authors
  1. Ranjini Srinivasan
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  2. Anushka Catherine Ninama
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  3. Sushma Krishna
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  4. Anil Vasudevan
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Contributions

RS and CAN: wrote the manuscript. RS, SK and AV: managed the patient in the hospital and have followed up the patient. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Anushka Catherine Ninama.

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Conflict of interest

All authors have declared no competing interest.

Ethical approval

The Institutional Ethics committee of St. John’s Medical College Hospital approved this case report.

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Informed consent was obtained from the parent of the participant included in the study.

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Srinivasan, R., Ninama, A.C., Krishna, S. et al. Familial hypomagnesemia with hypocalcemia: a rare cause of infantile seizures. CEN Case Rep 12, 139–145 (2023). https://doi.org/10.1007/s13730-022-00734-x

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  • DOI: https://doi.org/10.1007/s13730-022-00734-x

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