RESUMO
Adenylosuccinate lyase deficiency is an autosomal recessive inborn error of purine synthesis, which provokes epilepsy, psychomotor delay and/or autistic features. We report on two siblings with ADSL deficiency, who developed seizures on the first day of life. ADSL deficiency should be part of the screening to be performed in case of neonatal seizures.
Assuntos
Adenilossuccinato Liase/deficiência , Encefalopatias Metabólicas Congênitas/enzimologia , Epilepsia/enzimologia , Convulsões/enzimologia , Adenilossuccinato Liase/genética , Fatores Etários , Anticonvulsivantes/uso terapêutico , Encefalopatias Metabólicas Congênitas/diagnóstico , Encefalopatias Metabólicas Congênitas/mortalidade , Epilepsia/tratamento farmacológico , Epilepsia/etiologia , Feminino , Humanos , Recém-Nascido , Cariotipagem , Imageamento por Ressonância Magnética , Masculino , Convulsões/tratamento farmacológico , Convulsões/etiologiaRESUMO
Premature newborns with patent ductus arteriosus can be managed by prostaglandin inhibition, but this medical treatment carries a high risk of renal failure, and other complications such as necrotizing enterocolitis and hematologic disorders have been described. Echocardiography gives an early confirmation of shunt and surgical treatment may be proposed. The aortic arch anatomy in the premature infant may not be as simple to determine as the anatomy of an older child. In the premature infant the use of a clip for patent ductus arterious closure seems the best technique, avoiding circular dissection of the ductus. We report our experience of 68 cases operated upon.