Hereditary hypomagnesemia with secondary hypocalcemia caused by a novel mutation in TRPM6 gene
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İpek Dokurel Çetin
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Hamide Betül Gerik-Çelebi
Abstract
Objectives
Hereditary hypomagnesemia with secondary hypocalcemia (HSH), which results from variations in the transient receptor potential melastatin 6 (TRPM6) genes, is a rare hereditary cause of extremely low serum magnesium levels. We describe an infant with triggered seizures due to hypomagnesemia and a novel mutation in TRPM6 gene was identified.
Case presentation
A 10-month-old boy presented with multidrug resistant seizures, and axial hypotonia due to severe hypomagnesemia. Electroencephalography and neuroimaging of the patient was normal. He had a favorable outcome with magnesium supplement. In this study, the patient underwent clinical exome sequencing (CES) which detected a novel homozygous variant in the TRPM6 gene: NM_017662.5: c.5571-3C>G. After replacing his magnesium orally, he was free from seizures and had an encouraging outcome at the twelfth-month follow-up.
Conclusions
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.
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Research ethics: The local Institutional Review Board deemed the study exempt from review. The study was conducted in accordance with the Declaration of Helsinki (as revised in 2013).
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Informed consent: All clinical data were obtained with written informed consent from the parents of the subject.
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Author contributions: İDÇ conceived of the study. İDÇ, MD, OÇ and HBGÇ contributed to the analysis, synthesis and wrote the manuscript. MD and HBGÇ contributed to the data collection. OÇ and MD contributed to revised the manuscript. All authors contributed to the preparation of the manuscript.
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Competing interests: The authors state no conflict of interest.
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Research funding: This study did not receive any specific grant from funding agencies in the public, commercial or not-for-profit sectors.
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Data availability: Not applicable.
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- Frontmatter
- Review
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- Mini Review
- Effects of the COVID-19 pandemic on the incidence of central precocious puberty; a narrative review
- Original Articles
- Evaluation of the role of FTO (rs9939609) and MC4R (rs17782313) gene polymorphisms in type 1 diabetes and their relation to obesity
- Lack of association between month of birth and risk of developing type 1 diabetes in Brazil: a 40-year analysis
- Review on the screening of urine glucose for early diagnosis of type 2 diabetes mellitus in school children and adolescents with obesity in Hong Kong
- Effect of daily zinc supplementation for 12 weeks on serum thyroid auto-antibody levels in children and adolescents with autoimmune thyroiditis – a randomized controlled trial
- Correlation between serum vitamin D level and uterine volume in girls with idiopathic central precocious puberty
- Diagnostic model based on multiple factors for girls with central precocious puberty
- Validity and reliability of parent assessments of pubertal maturation among adolescent girls in Isfahan, Iran
- Newborn screening for primary carnitine deficiency using a second-tier genetic test
- Case Reports
- From neglect to peril: diabetic ketoacidosis unleashing colonic necrosis and perforation in an adolescent girl with type 1 diabetes mellitus
- Unusual onset of Graves’ disease associated with thymic hyperplasia in a 5-year-old girl with congenital bilateral clinical anophthalmia: diagnostic and therapeutic challenges
- Thyroid hormone resistance and large goiter mimicking infiltrative carcinoma in a pediatric patient
- Hereditary hypomagnesemia with secondary hypocalcemia caused by a novel mutation in TRPM6 gene
- Letter to the Editor
- Congenital hyperinsulinism patient with ABCC8 and KCNJ11 double heterozygous variants: a case report with 6 years follow-up
