No abstract

We describe a male infant with psychomotor retardation and leukodystrophy who excretes large quantities of N-acetylaspartate in his urine. A high CSF/plasma concentration ratio of N-acetylaspartate indicates that this substance originates in the brain. Fibroblasts from the patient are deficient in aspartoacylase activity. It is proposed that the dysmyelination in the patient may be due to failure of N-acetylaspartate to serve as a carrier of acetyl groups from mitochondria to the cytosol for lipogenesis.

The objective of this study was to evaluate the basis for diagnosis and assessment of children <2 y of age with urinary tract infections (UTI) and to describe their subsequent management as currently practised in Sweden. The study was a prospective, multicentre project as part of a programme for quality assurance. A total of 2309 children (1111M, 1198F) was studied during a 2-y period. Of the population at risk, 1.6% of both boys and girls were diagnosed with a UTI. This represents a minimum figure. Suprapubic bladder aspiration was mainly used during the first year of life, with the highest frequency in the youngest infants. Adhesive bags were used in half of the children, and the frequency increased with age. Imaging of the urinary tract was performed in 97% of the children. Vesicoureteric reflux was the most common finding, occurring in 36% of the girls and 24% of the boys. The presence of dilatation of the upper urinary tract correlated significantly to the presence and grade of reflux. Initial intravenous therapy was given to 31% of the children and long-term antibacterial prophylaxis to 20%. Major differences were found between centres in diagnostic rate, urine sampling technique and the use of parenteral therapy. In conclusion, this study showed a high diagnostic rate of urinary infections in children below 2 y of age. The urine sampling technique was optimal (suprapubic aspiration) in half of the infants, but less reliable in the children above 1 y of age. The frequency of imaging investigations of the urinary tract was high. The strategies for diagnosis and treatment varied considerably among centres.

After the age of 5 years, normal children have but few aerobic gram-negative rods periurethrally. This study examines whether there is an abnormal periurethral colonization in urinary tract infection-prone girls during infection-free intervals, indicating a defective local defence. In 13 girls with a history of recurrent infection, daily bacterial samples were obtained from the periurethral area and from urine. Sampling continued until an infection eventually occurred. Seven girls contracted a urinary tract infection within 3-30 days. All were heavy colonized with gram-negative rods, often several species, before infection appeared. Serotyping of E. coli confirmed that it was the colonizing strain which later invaded the bladder. The findings suggest a local defect in the antibacterial defence of infection-prone individuals and gives strong evidence for ascending infection. Six girls remained uninfected during an observation period of 9-123 days. They all had a normal periurethral flora. A reasonable hypothesis would be that the same factor counteracted colonization and infection. Since abnormal periurethral colonization was not a constant phenomenon the postulated defect may vary. This might explain the fact that urinary tract infections often appear in quick succession, often followed by long infection-free intervals.