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Familiær hypomagnesiæmi med sekundær hypokalcæmi som årsag til krampeanfald hos børn

Forfatter(e)
Kristina Thorsteinsson, Jesper Thaarup & Søren Hagstrøm
Børneafdelingen, Aalborg Universitetshospital

Ugeskr Læger 2019;181:V12180847

Reference: 
Ugeskr Læger 2019;181:V12180847
Blad nummer: 

Kristina Thorsteinsson, Jesper Thaarup & Søren Hagstrøm:

Familial hypomagnesaemia with secondary hypocalcaemia as a cause of seizures in children

Ugeskr Læger 2019;181:V12180847

This case report presents a three-month-old girl, previously healthy, who was admitted to the hospital due to a cyanotic episode during breastfeeding. The episode was initially interpreted as aspiration. She had recurrent generalised seizures, and blood tests revealed hypomagnesaemia and hypocalcaemia. The electrolyte abnormalities were corrected by intravenous magnesium with subsequent normalisation of the calcium level. Genetic testing discovered a deletion in the TRPM6, which is associated with familial hypomagnesaemia with secondary hypocalcaemia. It is important to identify electrolyte disturbances in infants with afebrile seizures.

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