RESUMEN

Glutaric aciduria type 1 (GA-1) is an inborn error of metabolism that results from a deficiency of glutaryl-CoA dehydrogenase. This disorder mainly manifests in early childhood and most patients with this condition develop a dystonic-dyskinetic syndrome. We report the anesthetic management of two sisters with GA-1, aged 30 and 17 months respectively at the time of surgery, who presented with macrocephaly and psychomotor delay. The children required CSF shunting procedures for hydrocephalus and subdural fluid collections, which were performed under total intravenous anesthesia with propofol and remifentanil.

Asunto(s)

Anestesia/métodos , Anestésicos Intravenosos/administración & dosificación , Glutaratos/metabolismo , Glutaril-CoA Deshidrogenasa/deficiencia , Errores Innatos del Metabolismo/cirugía , Hermanos , Anestésicos Intravenosos/efectos adversos , Derivaciones del Líquido Cefalorraquídeo/métodos , Preescolar , Trastornos Distónicos , Femenino , Cabeza/anomalías , Humanos , Hidrocefalia/complicaciones , Hidrocefalia/cirugía , Lactante , Errores Innatos del Metabolismo/complicaciones , Errores Innatos del Metabolismo/genética , Piperidinas/administración & dosificación , Piperidinas/efectos adversos , Propofol/administración & dosificación , Propofol/efectos adversos , Trastornos Psicomotores/complicaciones , Remifentanilo