PT  - JOURNAL ARTICLE
AU  - Papez, Jan
AU  - Starha, Jiri
AU  - Slaba, Katerina
AU  - Hubacek, Jaroslav A
AU  - Pecl, Jakub
AU  - Aulicka, Stefania
AU  - Urik, Milan
AU  - Ceylaner, Serdar
AU  - Vesela, Petra
AU  - Slaby, Ondrej
AU  - Jabandziev, Petr
TI  - Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report
DP  - 2021 Nov 23
TA  - Biomedical papers
PG  - 454--457
VI  - 165
IP  - 4
AID - 10.5507/bp.2021.027
IS  - 12138118
AB  - 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.