Abdulrazzaq Y M, Smigura F C, Wettrell G
United Arab Emirates University, Al Ain.
Eur J Pediatr. 1989 Feb;148(5):459-61. doi: 10.1007/BF00595914.
We describe two male infants suffering from primary hypomagnesaemia, diagnosed at 3 months and 2.5 months of age. They both presented with generalised convulsions, with case 2 exhibiting hypocalcaemia which did not respond to calcium and case 1 having normocalcaemia at first but hypocalcaemia 3 days after admission. Both improved dramatically after initiation of magnesium therapy. A carrier-mediated transport defect is the most likely cause of this disease. It is of the utmost importance that a correct and prompt diagnosis be made as therapy is simple and effective. Failure in diagnosing this condition could prove fatal as demonstrated in the family history of case 2.
我们描述了两名患有原发性低镁血症的男婴,分别在3个月和2.5个月大时被诊断出。他们均出现全身性惊厥,病例2表现为低钙血症,补钙治疗无效,病例1最初血钙正常,但入院3天后出现低钙血症。镁治疗开始后,两人病情均显著改善。载体介导的转运缺陷很可能是该病的病因。由于治疗简单有效,因此及时做出正确诊断至关重要。正如病例2的家族病史所示,未能诊断出这种疾病可能会导致致命后果。