Thorsteinsson Kristina, Thaarup Jesper, Hagstrøm Søren
Ugeskr Laeger. 2019 Apr 8;181(15).
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.
本病例报告介绍了一名三个月大的女童,此前身体健康,因母乳喂养期间出现发绀发作而入院。该发作最初被解释为误吸。她反复出现全身性癫痫发作,血液检查显示低镁血症和低钙血症。通过静脉注射镁纠正了电解质异常,随后钙水平恢复正常。基因检测发现TRPM6基因存在缺失,这与家族性低镁血症伴继发性低钙血症有关。识别无热惊厥婴儿的电解质紊乱很重要。