RESUMEN
BACKGROUND: Glucose transporter type 1 deficiency syndrome is caused by brain energy failure resulting from a disturbance in glucose transport. PATIENTS: We describe a 4-year-old boy with classical type glucose transporter type 1 deficiency syndrome with a heterozygous splice acceptor site mutation (c.517-2A>G) in the SLCA2A1 gene. RESULTS: We initiated a ketogenic diet at 4 months of age. However, even though his condition was good during ketogenic diet therapy, multiple cerebral white matter and right cerebellum lesions appeared at 9 months of age. The lesions in the cerebral white matter subsequently disappeared, indicating that white matter lesions during diet therapy may be reversible and independent of the ketogenic diet. CONCLUSIONS: This is the first report of reversible white matter lesions during ketogenic diet therapy in glucose transporter type 1 deficiency syndrome.
Asunto(s)
Errores Innatos del Metabolismo de los Carbohidratos/dietoterapia , Dieta Cetogénica/efectos adversos , Leucoencefalopatías/inducido químicamente , Proteínas de Transporte de Monosacáridos/deficiencia , Preescolar , Humanos , Leucoencefalopatías/diagnóstico , Imagen por Resonancia Magnética , MasculinoRESUMEN
Rad-87 and RRa are new acoustic monitoring devices which can monitor the respiratory rate. To our knowledge, no studies have reported the RRa sensor used in pediatric patients after surgery. We succeeded in measuring the respiratory rate with the RRa sensor in the Pediatric Intensive Care Unit(PICU). A 10-year-old boy, 14.5 kg in weight and 119.6 cm in height, with cerebral palsy, mental retardation, epilepsy, and obstructive sleep apnea due to adenoidal and tonsillar hypertrophy, was scheduled for adenotonsillectomy under general anesthesia. Anesthesia was maintained with oxygen, air, sevoflurane (1.5-2.0%), remifentanil (0.1 to 0.5 microg . kg-1. min-1), and fentanyl (4 microg . kg-1). The operating time was 55 minutes, and the duration of anesthesia was 133 minutes. After finishing the surgery, we attached the RRa sensor to his anterior neck and monitored his respiratory rate. Furthermore, RRa could count his respiratory rate, during transfer from the operating room to PICU. The patient was sedated with dexmedetomidine (0.28 microg . kg-1 . min-1) at PICU, and his respiratory rate was accurately measured with the RRa sensor. We hope that Rad-87 and RRa sensors will become useful for measuring the respiratory rate in pediatric patients in the future.