ABSTRACTMaple syrup urine disease is a congenital metabolic disorder, commonly presenting as acute neonatal encephalopathy.Case 1. A 7-day-old neonate exhibited somnolence and refusal to breastfeed, later developing respiratory failure, neurological impairment, metabolic acidosis, and death. Elevated levels of branched-chain amino acids and a confirmatorygenetic test established the diagnosis. Case 2. A 10-day-old neonate was admitted with breastfeeding refusal, hypoglycemia, and seizures. Elevated branched-chain amino acids confirmed the diagnosis genetically. The patient receivedparenteral nutrition and a special formula, leading to progressive neurological improvement. Currently, at 2 years and 7months, the patient remains under multidisciplinary follow-up. Conclusion. Early detection of maple syrup urine diseasethrough neonatal screening significantly improves neurological outcomes.Â...

ABSTRACTMaple syrup urine disease is a congenital metabolic disorder, commonly presenting as acute neonatal encephalopathy.Case 1. A 7-day-old neonate exhibited somnolence and refusal to breastfeed, later developing respiratory failure, neurological impairment, metabolic acidosis, and death. Elevated levels of branched-chain amino acids and a confirmatorygenetic test established the diagnosis. Case 2. A 10-day-old neonate was admitted with breastfeeding refusal, hypoglycemia, and seizures. Elevated branched-chain amino acids confirmed the diagnosis genetically. The patient receivedparenteral nutrition and a special formula, leading to progressive neurological improvement. Currently, at 2 years and 7months, the patient remains under multidisciplinary follow-up. Conclusion. Early detection of maple syrup urine diseasethrough neonatal screening significantly improves neurological outcomes.Â...

Objetivo general: Determinar la relación entre los factores de riesgo y las infecciones del tracto urinario en niños menores de cinco años atendidos en el Instituto Nacional de Salud del Niño en el periodo enero 2017 a enero 2020. Las infecciones del tracto urinario (ITU) son de presentación frecuente en la población pediátrica; son bacterianas y usualmente tienen un pronóstico favorable, sin embargo, de no ser diagnosticadas correctamente ni tratadas a tiempo, pueden llevar a patologías más complejas como pielonefritis, entre otros problemas que afectan el parénquima renal. La evaluación clínica debe considerar los factores de riesgo del paciente para la aproximación a un diagnóstico oportuno. La presentación clínica de esta enfermedad en la población pediátrica es muy inespecífica en cuanto a sintomatología, especialmente en menores de un año. Por tal motivo, el d...