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Arch Dis Child 1998;78:127-130 ( February )

Clinical presentation and outcome in primary familial hypomagnesaemia

Hanna Shalev,a Moshe Phillip,b Aharon Galil,c Rivka Carmi,d Daniel Landaua

a Soroka Medical Center and Faculty of Health Sciences,Ben Gurion University of the Negev, Beer Sheva, Israel: Department of Pediatrics, b Paediatric Therapeutic and Diagnostic Day Care Centre, c Zusman Child Development Centre, d Genetics Institute

Correspondence to: Dr Daniel Landau, Department of Pediatrics, Soroka Medical Center, PO Box 151, Beer Sheva 84101, Israel.


Accepted 14 August 1997

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.

Keywords: hypomagnesaemia; hypocalcaemia; genetics; tetany

© 1998 by Archives of Disease in Childhood


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