Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2021, 165(4):454-457 | DOI: 10.5507/bp.2021.027

Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report

Jan Papeza, b, Jiri Starhaa, b, Katerina Slabaa, b, Jaroslav A Hubacekc, d, Jakub Pecla, b, Stefania Aulickab, e, Milan Urikb, Serdar Ceylanerf, Petra Veselag, Ondrej Slabyb, g, h, Petr Jabandzieva, b, g
a Department of Pediatrics, University Hospital Brno, Brno, Czech Republic
b Faculty of Medicine, Masaryk University, Brno, Czech Republic
c Experimental Medicine Centre, Institute for Clinical and Experimental Medicine, Prague, Czech Republic
d 3rd Department of Internal Medicine, 1st Faculty of Medicine, Charles University, Prague, Czech Republic
e Department of Pediatric Neurology, University Hospital Brno, Brno, Czech Republic
f Intergen Genetics Centre, Ankara, Turkey
g Central European Institute of Technology, Brno, Czech Republic
h Department of Biology, Faculty of Medicine, Masaryk University, Brno, Czech Republic

Background: Primary hypomagnesemia with secondary hypocalcemia (HSH) is a rare genetic disorder. Dysfunctional transient receptor potential melastatin 6 causes impaired intestinal absorption of magnesium, leading to low serum levels accompanied by hypocalcemia. Typical signs at initial manifestation are generalized seizures, tetany, and/or muscle spasms.

Case report: We present a 5 w/o female manifesting tonic-clonic seizures. Laboratory tests detected severe hypomagnesemia and hypocalcemia. The molecular genetic analysis revealed two novel mutations within the TRPM6 gene c.3308dupC (p.Pro1104Thrfs*28) (p.P1104Tfs*28) and c.3958C>T (p.Gln1302*) (p.Q1302*) and the patient was successfully treated with Mg supplementation.

Conclusion: Ion disbalance should be taken into account in the differential diagnosis of infantile seizures. Accurate diagnosis of HSH together with appropriate treatment are crucial to prevent irreversible neurological outcomes.

Keywords: hypomagnesemia, hypocalcemia, transient receptor potential melastatin 6, infantile seizures

Received: January 23, 2021; Revised: April 13, 2021; Accepted: April 22, 2021; Prepublished online: May 18, 2021; Published: November 23, 2021  Show citation

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Papez, J., Starha, J., Slaba, K., Hubacek, J.A., Pecl, J., Aulicka, S., ... Jabandziev, P. (2021). Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report. Biomedical papers, 165(4), 454-457. doi: 10.5507/bp.2021.027
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