RESUMEN
Prematurity represents 10.6% of all births, and although preterm infants usually show adequate neurodevelopmental outcomes, some may develop significant and long-lasting neurological sequelae. Many studies have analyzed predictive factors for developing severe neurodevelopmental impairments (cerebral palsy, other motor and socio-relational disorders such as autism). In this study, 148 preterm infants were enrolled to investigate the neurodevelopmental trajectories in a population of low-risk premature infants using standardized assessment methods. Significant correlations were found between the general movements, the Hammersmith Infant Neurological Examination, and the Griffiths Mental and Development Scales. Moreover, this study showed their validity and predictivity for adverse neurodevelopmental outcomes even in low-risk infants.
RESUMEN
The SLC25A22 (Solute Carrier Family 25, Member 22) gene encodes for a mitochondrial glutamate/H+ symporter and is involved in the mitochondrial transport of metabolites across the mitochondrial membrane. We hereby report a 12-year-old girl presenting with early-onset epileptic encephalopathy, hypotonia, and global developmental delay. Whole exome sequencing identified a novel homozygous missense mutation in SLC25A22 gene (c.97A>G; p.Lys33Glu), as the likely cause of the disease. The phenotype of our patient and EEG recordings do not completely overlap with the phenotypes previously described, leading to a new and more complex form of disease associated with SLC25A22 variants, characterized by dyskinetic movements and oculogyric crisis.
Asunto(s)
Discapacidades del Desarrollo , Epilepsia Generalizada , Proteínas de Transporte de Membrana Mitocondrial/genética , Niño , Discapacidades del Desarrollo/genética , Electroencefalografía , Epilepsia Generalizada/genética , Femenino , Humanos , Hipotonía Muscular/genética , Mutación Missense , FenotipoAsunto(s)
Trastornos del Movimiento , Espasmos Infantiles , Estudios de Seguimiento , Humanos , Lactante , Trastornos del Movimiento/complicaciones , Trastornos del Movimiento/tratamiento farmacológico , Trastornos del Movimiento/genética , Mutación , Proteínas del Tejido Nervioso/genética , Nitrilos , Piridonas , Receptores de N-Metil-D-Aspartato/genéticaRESUMEN
Neonatal seizures are the most common neurological emergency, and neonatal status epilepticus (NSE) remains a controversial entity, with no general consensus about its definition and treatment. Here, we report on three newborns with NSE refractory to first- and second-line antiepileptic drugs successfully treated with intravenous (IV) hydrocortisone. The patients had previously failed therapy with levetiracetam, phenobarbital and midazolam, showing persistent clinical and electrical seizures. Modulation of brain inflammation triggered during prolonged epileptic activity has been thought to potentially explain the beneficial effects of anti-inflammatory treatment.
