EEG in assessing hydroxycobalamin therapy in neonatal methylmalonic aciduria with homocystinuria

Citation
Cv. Bellieni et al., EEG in assessing hydroxycobalamin therapy in neonatal methylmalonic aciduria with homocystinuria, BIOL NEONAT, 78(4), 2000, pp. 327-330
Citations number
12
Categorie Soggetti
Medical Research General Topics
Journal title
BIOLOGY OF THE NEONATE
ISSN journal
00063126 → ACNP
Volume
78
Issue
4
Year of publication
2000
Pages
327 - 330
Database
ISI
SICI code
0006-3126(2000)78:4<327:EIAHTI>2.0.ZU;2-L
Abstract
We performed serial electroencephalograms (EEG) in a newborn with methylmal onic aciduria and homocystinuria to assess the effects of hydroxycobalamin (OHcbl) therapy on the CNS. Diagnosis was made at 22 days of age: she had t orpor, failure to thrive and hypotonia of the limbs, and intermittent opist hotonus. The first EEG, performed on the first day of therapy, showed abnor mal and immature transients, low voltage and very long flat periods in the discontinuous part of the tracing. These features quickly improved during t herapy. After 13 days of OHcbl therapy, the EEG tracing became normal for c onceptional age and showed normal sleep phases with only minor anomalies; o nly mild hypotonia still remained and biochemical parameters normalized. Th e decrease in blood homocysteine (index of brood detoxification) was statis tically correlated to the reduction of the length of flat periods in EEG (p < 0.01). In conclusion, changes in neonatal EEG, particularly the length o f interburst periods in the intermittent part of the tracing, appeared to b e a reliable index for evaluating drug effectiveness in methylmalonic acidu ria and homocystinuria. Copyright (C) 2000 S. Karger AG, Basel.