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Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report.
- Source :
-
Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia [Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub] 2021 Nov; Vol. 165 (4), pp. 454-457. Date of Electronic Publication: 2021 May 18. - Publication Year :
- 2021
-
Abstract
- 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.<br />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.<br />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.
Details
- Language :
- English
- ISSN :
- 1804-7521
- Volume :
- 165
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia
- Publication Type :
- Academic Journal
- Accession number :
- 34012148
- Full Text :
- https://doi.org/10.5507/bp.2021.027