Primary infantile hypomagnesaemia; report of two cases and review of literature.
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.
Abdulrazzaq
Y M
YM
United Arab Emirates University, Al Ain.
Smigura
F C
FC
Wettrell
G
G
D002118:Calcium / Q000097:blood; D006801:Humans; D007223:Infant; D008274:Magnesium / Q000097:blood*; D008297:Male; D010375:Pedigree; D012640:Seizures / Q000097:blood / Q000209:etiology
D008274:Magnesium; D002118:Calcium