No abstract

An 11-year-old girl with nonketotic hyperglycinemia who typically presented with a picture of early myoclonic encephalopathy in the neonatal period is presented in this article. Treated early with sodium benzoate and dextromethorphan, she became seizure-free, while myoclonus persisted. During examination, multifocal rhythmic myoclonic jerks in gamma frequency enhanced by motor activity were noted. Coherence analysis of the electroencephalography-electromyography relationship indicated a cortical origin of the myoclonic jerks. Observation of this case suggests that rhythmic cortical myoclonus may represent a late evolution of this rare disorder.

Aim: Efforts are currently made to detect vesicoureteric reflux (VUR) early after urinary infections in order to limit secondary renal damage. This study investigated the extent to which recommendations for the detection of VUR are put into practice, and their influence on the age at diagnosis. Methods: The age at diagnosis of VUR after urinary tract infections was analysed in 126 patients (48M, 78F) referred to a tertiary centre in Milan between 1976 and 1999. Results: The median age at diagnosis was 34 mo in subjects born before and 8 mo (p < 0.001) in those born after 1988. The difference was statistically significant in female but not in male subjects. The figures from Milan were compared with those for 102 patients (35M, 65F) born between 1946 and 1970, treated in Melbourne and reported in 1976. In Melbourne the median age at diagnosis was 1–2 y for boys and 5–6 y for girls; in Milan, the corresponding figures were <1y and 1–2 y. The difference between Melbourne and Milan was statistically significant for both genders. Conclusion: In Milan VUR is now detected earlier than in the past. This trend is more marked in females than in males, but reflux is still detected earlier in boys.