Clinical presentation and outcome in primary familial hypomagnesaemia

Hanna Shalev, Moshe Phillip, Aharon Galil, Rivka Carmi, Daniel Landau

Research output: Contribution to journalArticlepeer-review

104 Scopus citations


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.

Original languageEnglish
Pages (from-to)127-130
Number of pages4
JournalArchives of Disease in Childhood
Issue number2
StatePublished - 1 Jan 1998


  • Genetics
  • Hypocalcaemia
  • Hypomagnesaemia
  • Tetany

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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