Primary infantile hypomagnesaemia; report of two cases and review of literature

Eur J Pediatr. 1989 Feb;148(5):459-61. doi: 10.1007/BF00595914.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Calcium / blood
  • Humans
  • Infant
  • Magnesium / blood*
  • Male
  • Pedigree
  • Seizures / blood
  • Seizures / etiology

Substances

  • Magnesium
  • Calcium