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.
- Klíčová slova
- hypocalcemia, hypomagnesemia, infantile seizures, transient receptor potential melastatin 6,
- MeSH
- hořčík MeSH
- hyperkalciurie MeSH
- hypokalcemie * genetika MeSH
- kationtové kanály TRPM * genetika MeSH
- lidé MeSH
- mutace MeSH
- nedostatek hořčíku * vrozené genetika MeSH
- nefrokalcinóza MeSH
- vrozené poruchy tubulárního transportu MeSH
- záchvaty genetika MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Názvy látek
- hořčík MeSH
- kationtové kanály TRPM * MeSH
- TRPM6 protein, human MeSH Prohlížeč
