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Logo of archdischArchives of Disease in ChildhoodInstructions for authorsCurrent TOC
Arch Dis Child. Feb 1998; 78(2): 127–130.
PMCID: PMC1717462
Clinical presentation and outcome in primary familial hypomagnesaemia
H. Shalev, M. Phillip, A. Galil, R. Carmi, and D. Landau
Soroka Medical Center, Beer Sheva, Israel.
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.

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