Familiær hypomagnesiæmi med sekundær hypokalcæmi som årsag til krampeanfald hos børn

Translated title of the contribution: Familial hypomagnesaemia with secondary hypocalcaemia as a cause of seizures in children

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Abstract

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 hypomagne-s-aemia with secondary hypocalcaemia. It is important to identify electrolyte disturbances in infants with afebrile seizures.

Translated title of the contributionFamilial hypomagnesaemia with secondary hypocalcaemia as a cause of seizures in children
Original languageDanish
Article numberV12180847
JournalUgeskrift for Laeger
Volume181
ISSN0041-5782
Publication statusPublished - 8 Apr 2019

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