Clinical presentation and outcome in primary familial hypomagnesaemia
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.
© 1998 by Archives of Disease in Childhood
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