Familial hypomagnesaemia with secondary hypocalcaemia as a cause of seizures in children
Thorsteinsson, K.; Thaarup, J.; Hagstrøm, S.ør.
Ugeskrift for Laeger 181(15)
2019
ISSN/ISBN: 1603-6824 PMID: 30990164 Document Number: 698647
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.