Twenty-one patients have been diagnosed with glutaric aciduria type I over a 16-year period in the Republic of Ireland, 11 following clinical presentation and 10 following a high-risk screen. Nineteen have been managed with diet. Eight patients have died, of whom 7 were diagnosed clinically. Six had dystonic and one spastic cerebral palsy. Of the 11 patients who did not have cerebral palsy, 10 were diagnosed following a high-risk screen. Seven of the 11 have no abnormal neurological signs; 6 of the 7 have abnormal CT or MRI findings; and no case of striatal degeneration has occurred during the past 14 years in the high-risk screened group.
Aim-To establish a reference range for antimony in the serum and urine of infants in the first year of life. Methods-100 infants were selected randomly from the population. Each infant had a single blood and urine sample taken. Antimony was assayed using inductively coupled plasma mass spectrometry. Results-The reference range for antimony in the serum of infants in the first year of life was established as 0.09-0.25 µg/l. The upper 95% centile for urinary antimony, corrected for creatinine, in the same population was 2.6 ng/mg creatinine. There was a very weak correlation between the serum and urine concentrations. Conclusions-This study confirms the presence of low concentrations of antimony in the serum and urine of healthy infants. (J Clin Pathol 1998;51:238-240)
Most women were uneducated about the risks posed by Toxoplasma gondii exposure during pregnancy. There is a clear need for better educational programmes regarding primary prevention of congenital toxoplasmosis if neonatal infection is to be avoided.
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