Skip to main content
NCBI home page
Archives of Disease in Childhood logoLink to Archives of Disease in Childhood
. 1998 Feb;78(2):127–130. doi: 10.1136/adc.78.2.127

Clinical presentation and outcome in primary familial hypomagnesaemia

H Shalev 1, M Phillip 1, A Galil 1, R Carmi 1, D Landau 1
PMCID: PMC1717462  PMID: 9579153

Abstract

The clinical presentation and long term outcome (mean follow up eight years, range 0.25 to 21) of 15 patients with autosomal recessive primary familial hypomagnesaemia is described. The most common (67%) presenting events were generalised hypocalcaemic-hypomagnesaemic seizures at a mean (SD) age of 4.9 (2.5) weeks. Thirteen infants, treated soon after diagnosis with high dose enteral magnesium developed normally. Their serum calcium returned to normal concentrations but serum magnesium could not be maintained at normal concentrations (0.53 (0.12 SD) mmol/l; normal >0.62). Delay in establishing a diagnosis led to a convulsive disorder with permanent neurological impairment in two infants. Reported complications of prolonged hypomagnesaemia such as renal stones, hypertension, arrhythmias, sudden death, or dyslipidaemia were not observed. 



Full Text

The Full Text of this article is available as a PDF (87.9 KB).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Abdulrazzaq Y. M., Smigura F. C., Wettrell G. Primary infantile hypomagnesaemia; report of two cases and review of literature. Eur J Pediatr. 1989 Feb;148(5):459–461. doi: 10.1007/BF00595914. [DOI] [PubMed] [Google Scholar]
  2. Anast C. S., Winnacker J. L., Forte L. R., Burns T. W. Impaired release of parathyroid hormone in magnesium deficiency. J Clin Endocrinol Metab. 1976 Apr;42(4):707–717. doi: 10.1210/jcem-42-4-707. [DOI] [PubMed] [Google Scholar]
  3. Arnold J. D., Oldfield R. K., Pollard A. C., Silink M. Primary hypomagnesaemia: case report. Aust Paediatr J. 1983 Mar;19(1):45–46. doi: 10.1111/j.1440-1754.1983.tb02051.x. [DOI] [PubMed] [Google Scholar]
  4. Becker K., Lombeck I., Bremer H. J. Primäre Hypomagnesiämie. Klinischer Verlauf, diagnostische und therapeutische Untersuchungen bei drei Kindern. Monatsschr Kinderheilkd. 1979 Jan;127(1):37–42. [PubMed] [Google Scholar]
  5. Chery M., Biancalana V., Philippe C., Malpuech G., Carla H., Gilgenkrantz S., Mandel J. L., Hanauer A. Hypomagnesemia with secondary hypocalcemia in a female with balanced X;9 translocation: mapping of the Xp22 chromosome breakpoint. Hum Genet. 1994 May;93(5):587–591. doi: 10.1007/BF00202829. [DOI] [PubMed] [Google Scholar]
  6. Dudin K. I., Teebi A. S. Primary hypomagnesaemia. A case report and literature review. Eur J Pediatr. 1987 May;146(3):303–305. doi: 10.1007/BF00716481. [DOI] [PubMed] [Google Scholar]
  7. Dyckner T., Wester P. O. Effect of magnesium on blood pressure. Br Med J (Clin Res Ed) 1983 Jun 11;286(6381):1847–1849. doi: 10.1136/bmj.286.6381.1847. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Eraut D. Idiopathic hypoparathyroidism presenting as dementia. Br Med J. 1974 Mar 9;1(5905):429–430. doi: 10.1136/bmj.1.5905.429. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Fatemi S., Ryzen E., Flores J., Endres D. B., Rude R. K. Effect of experimental human magnesium depletion on parathyroid hormone secretion and 1,25-dihydroxyvitamin D metabolism. J Clin Endocrinol Metab. 1991 Nov;73(5):1067–1072. doi: 10.1210/jcem-73-5-1067. [DOI] [PubMed] [Google Scholar]
  10. Garty R., Alkalay A., Bernheim J. L. Parathyroid hormone secretion and responsiveness to parathyroid hormone in primary hypomagnesemia. Isr J Med Sci. 1983 Apr;19(4):345–348. [PubMed] [Google Scholar]
  11. Geven W. B., Monnens L. A., Willems J. L. Magnesium metabolism in childhood. Miner Electrolyte Metab. 1993;19(4-5):308–313. [PubMed] [Google Scholar]
  12. Graber M. L., Schulman G. Hypomagnesemic hypocalcemia independent of parathyroid hormone. Ann Intern Med. 1986 Jun;104(6):804–805. doi: 10.7326/0003-4819-104-6-804. [DOI] [PubMed] [Google Scholar]
  13. Guillard O., Mettey R., Lecron J. C., Pineau A. Congenital hypomagnesemia: alternatives to tissue biopsies for monitoring body magnesium status. Clin Biochem. 1992 Dec;25(6):463–465. doi: 10.1016/0009-9120(92)90135-f. [DOI] [PubMed] [Google Scholar]
  14. Hennekam R. C., Donckerwolcke R. A. Primary hypomagnesaemia, an autosomal recessive inherited disease? Lancet. 1983 Apr 23;1(8330):927–927. doi: 10.1016/s0140-6736(83)91352-1. [DOI] [PubMed] [Google Scholar]
  15. Héroux O., Peter D., Tanner A. Effect of a chronic suboptimal intake of magnesium on magnesium and calcium content of bone and on bone strength of the rat. Can J Physiol Pharmacol. 1975 Apr;53(2):304–310. doi: 10.1139/y75-043. [DOI] [PubMed] [Google Scholar]
  16. Johansson G., Backman U., Danielson B. G., Ljunghall S., Wikström B. Magnesium metabolism in renal stone disease. Invest Urol. 1980 Sep;18(2):93–96. [PubMed] [Google Scholar]
  17. Mettey R., Hoppeler A. Les déficits magnésiens de l'enfant. Arch Fr Pediatr. 1982 Dec;39(10):837–844. [PubMed] [Google Scholar]
  18. Milla P. J., Aggett P. J., Wolff O. H., Harries J. T. Studies in primary hypomagnesaemia: evidence for defective carrier-mediated small intestinal transport of magnesium. Gut. 1979 Nov;20(11):1028–1033. doi: 10.1136/gut.20.11.1028. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Praga M., Vara J., González-Parra E., Andrés A., Alamo C., Araque A., Ortiz A., Rodicio J. L. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Kidney Int. 1995 May;47(5):1419–1425. doi: 10.1038/ki.1995.199. [DOI] [PubMed] [Google Scholar]
  20. Ramee S. R., White C. J., Svinarich J. T., Watson T. D., Fox R. F. Torsade de pointes and magnesium deficiency. Am Heart J. 1985 Jan;109(1):164–167. doi: 10.1016/0002-8703(85)90432-6. [DOI] [PubMed] [Google Scholar]
  21. Rayssiguier Y., Gueux E. Magnesium and lipids in cardiovascular disease. J Am Coll Nutr. 1986;5(6):507–519. doi: 10.1080/07315724.1986.10720153. [DOI] [PubMed] [Google Scholar]
  22. Rude R. K., Oldham S. B., Singer F. R. Functional hypoparathyroidism and parathyroid hormone end-organ resistance in human magnesium deficiency. Clin Endocrinol (Oxf) 1976 May;5(3):209–224. doi: 10.1111/j.1365-2265.1976.tb01947.x. [DOI] [PubMed] [Google Scholar]
  23. Skyberg D., Stromme J. H., Nesbakken R., Harnaes K. Congenital primary hypomagnesemia, an inborn error of metabolism? Acta Paediatr Scand. 1967;(Suppl):26–27. doi: 10.1111/j.1651-2227.1967.tb05195.x. [DOI] [PubMed] [Google Scholar]
  24. Strømme J. H., Steen-Johnsen J., Harnaes K., Hofstad F., Brandtzaeg P. Familial hypomagnesemia--a follow-up examination of three patients after 9 to 12 years of treatment. Pediatr Res. 1981 Aug;15(8):1134–1139. doi: 10.1203/00006450-198108000-00012. [DOI] [PubMed] [Google Scholar]
  25. Sutton R. A., Domrongkitchaiporn S. Abnormal renal magnesium handling. Miner Electrolyte Metab. 1993;19(4-5):232–240. [PubMed] [Google Scholar]
  26. Tsukahara H., Nakashima T., Yoshimoto M., Kuriyama M., Shigematsu Y., Hayashi S., Haruki S., Ishii Y., Sudo M. Evaluation of lumbar bone mineral density by dual energy x-ray absorptiometry. Acta Paediatr Jpn. 1991 Aug;33(4):459–466. doi: 10.1111/j.1442-200x.1991.tb02572.x. [DOI] [PubMed] [Google Scholar]
  27. Vainsel M., Vandevelde G., Smulders J., Vosters M., Hubain P., Loeb H. Tetany due to hypomagnesaemia with secondary hypocalcaemia. Arch Dis Child. 1970 Apr;45(240):254–258. doi: 10.1136/adc.45.240.254. [DOI] [PMC free article] [PubMed] [Google Scholar]
  28. Walder R. Y., Shalev H., Brennan T. M., Carmi R., Elbedour K., Scott D. A., Hanauer A., Mark A. L., Patil S., Stone E. M. Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint. Hum Mol Genet. 1997 Sep;6(9):1491–1497. doi: 10.1093/hmg/6.9.1491. [DOI] [PubMed] [Google Scholar]
  29. Yamamoto T., Kabata H., Yagi R., Takashima M., Itokawa Y. Primary hypomagnesemia with secondary hypocalcemia. Report of a case and review of the world literature. Magnesium. 1985;4(2-3):153–164. [PubMed] [Google Scholar]

Articles from Archives of Disease in Childhood are provided here courtesy of BMJ Publishing Group

RESOURCES