RESUMEN
Twenty-two small for dates (SFD) fetuses and 96 fetuses from uncomplicated pregnancies were monitored on two occasions between 27 and 32 weeks and the second time between 33 and 36 weeks of gestation by studying the development of behavioural states (coincidence 1F and 2F; no coincidence) and umbilical artery Doppler waveform patterns (UA; Resistance Index, RI). Data were related to neurological outcome at 8 months after birth. The purpose of this study was to investigate if the development of behavioural state is disturbed in SFD fetuses and if SFD fetuses who needed to be delivered early and/or had abnormal neurological outcome showed different state development and RI than SFD fetuses delivered later in pregnancy or with normal neurological outcome. Finally, we studied if there was a relationship between state development and RI. At 27-32 weeks of gestation the percentage of coincidence 2F (C2F%) was lower and the percentage of coincidence 1F (C1F%) and no coincidence (NOC%) were higher in the SFD fetuses than in the control group. At 33-36 weeks C2F% was lower and NOC% was higher but not statistically different (P = 0.2 and P = 0.07, respectively). SFD fetuses who needed to be delivered early had poorer state development than SFD fetuses at lower risk and infants who were abnormal at 8 months of life showed a higher C1F% and lower C2F% at 27-32 weeks. There were significant correlations between RI on the one hand and NOC% (r = 0.62) and C2F% (r = -0.48) on the other hand at 27-32 weeks in the subgroup with abnormal neurological outcome. In conclusion, in SFD fetuses there are disturbances in the development of behavioural states as well in the distribution of the periods of coincidence (with a decrease in C2F% and an increase in C1F%). Poorest state development is present in SFD fetuses at highest risk and in this group there appears to be a significant relationship between the degree of utero-placental insufficiency (RI) and disturbances in behavioural development.
Asunto(s)
Conducta , Retardo del Crecimiento Fetal/fisiopatología , Feto/fisiología , Flujometría por Láser-Doppler , Resultado del Embarazo , Femenino , Retardo del Crecimiento Fetal/complicaciones , Edad Gestacional , Humanos , Enfermedades del Sistema Nervioso/etiología , Embarazo , Arterias Umbilicales/fisiopatologíaRESUMEN
We describe a patient with methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism of the Cbl-C type mutant (McKusick 277400). Our case was diagnosed within the first 2 months of life by amino acid analysis (ion-exchange chromatography) and by biochemical studies in cultured fibroblasts ([14C]propionate incorporation, methionine and serine formation). We discuss the clinical course and the biochemical evolution after 2 years of hydroxycobalamin treatment that led to an improvement in general clinical condition and neurological performance.