Mild hypotonia and recurrent seizures in an 8-month-old boy: Questions

Özlü, Sare Gülfem; Kasapkara, Çiğdem Seher; Ceylaner, Serdar; Nergız, Meryem Erat; Alan, Başak; Yılmaz, Songül; Kurt, Ayşegül Neşe Çıtak

doi:10.1007/s00467-019-04231-9

Cited by 2 publications

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“…The most common manifestations of HSH are neurological symptoms that include seizures, tetany, tremors, and restlessness 12 . Our patient manifested seizures in early infancy at 5 weeks of age, which is similar to previously reported cases 9,[13][14][15][16][17][18] . If misdiagnosed, HSH can lead to failure to thrive, mental retardation, and even death 15 .…”

Section: Discussionsupporting

confidence: 91%

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

Papež¹,

Štarha²,

Slabá³

et al. 2021

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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.

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