ENFERMEDAD DE LA ORINA CON OLOR A JARABE DE ARCE ASOCIADA A ENCEFALOPATÍA NEONATAL AGUDA: REPORTE DE CASO
Authors/Creators
- 1. Pontificia Universidad Católica del Ecuador. Facultad de Ciencias de la Salud; Centro Médico MAIP Salud. Santo Domingo de los Tsáchilas, Ecuador
- 2. Facultad de Ciencias de la Salud, Carrera de Medicina, Universidad Técnica de Ambato; Departamento de Pediatría, Hospital Regional Docente Ambato. Ecuador.
- 3. Consultorio particular
- 4. Facultad de Ciencias de la Salud, Posgrado de Pediatría, Universidad Técnica de Ambato. Ecuador.
- 5. Vida+ Medical Center. Tandapi, Ecuador
Description
Tipo de artículo: Caso clínico
La enfermedad de la orina con olor a jarabe de arce es un error innato del metabolismo causado por la deficiencia del complejo deshidrogenasa de α-cetoácidos de cadena ramificada, asociado a encefalopatía neonatal grave.
Caso clínico: Recién nacida de 5 días, a término, con hipoactividad, rechazo alimentario, ictericia, hipoglucemia persistente, hipertonía y convulsiones focales. Evolucionó con acidosis metabólica, hipernatremia e insuficiencia respiratoria que requirió ventilación mecánica. La presencia de olor a jarabe de arce, junto con antecedentes familiares, orientó a la sospecha de MSUD. Se inició manejo intensivo, soporte metabólico, tiamina y L-carnitina, con mejoría neurológica progresiva.
Discusión: La evolución clínica representó un desafío diagnóstico debido a la similitud inicial con cuadros sépticos y encefalopatía hipóxico-isquémica neonatal. La correlación entre los hallazgos semiológicos, metabólicos y neurológicos facilitó el inicio temprano del tratamiento intensivo con una evolución clínica favorable. No obstante, la ausencia de confirmación genética y de cuantificación plasmática específica de aminoácidos limitó la caracterización definitiva del subtipo de la enfermedad.
Conclusiones: El reconocimiento precoz y el tratamiento oportuno son esenciales para reducir el daño neurológico irreversible y la mortalidad neonatal.
Abstract (English)
Article type: Clinical case
Maple syrup urine disease is an inborn error of metabolism caused by a deficiency of the branched-chain α-ketoacid dehydrogenase complex and is associated with severe neonatal encephalopathy.
Case presentation: A 5-day-old term female neonate presented with hypoactivity, feeding refusal, jaundice, persistent hypoglycaemia, hypertonia, and focal seizures. She subsequently developed metabolic acidosis, hypernatraemia, and respiratory failure requiring mechanical ventilation. The presence of a characteristic maple syrup odour, together with a relevant family history, raised suspicion of MSUD. Intensive management, metabolic support, thiamine, and L-carnitine were initiated, resulting in progressive neurological improvement.
Discussion: The clinical course represented a diagnostic challenge because of its initial similarity to neonatal sepsis and hypoxic-ischaemic encephalopathy. Correlation of the semiological, metabolic, and neurological findings facilitated early initiation of intensive treatment, with favourable clinical evolution. Nevertheless, the absence of genetic confirmation and specific plasma amino acid quantification limited definitive characterisation of the disease subtype.
Conclusions: Early recognition and prompt treatment are essential to reduce irreversible neurological injury and neonatal mortality.
Files
sanum_v10_n3_a18.pdf
Additional details
Additional titles
- Translated title (English)
- MAPLE SYRUP URINE DISEASE ASSOCIATED WITH ACUTE NEONATAL ENCEPHALOPATHY: A CASE REPORT
Dates
- Collected
-
2026-06-11manuscrito recibido
- Accepted
-
2026-07-13evaluación doble ciego
- Available
-
2026-07-29publicación en número de la revista
Software
- Repository URL
- https://revistacientificasanum.com/
References
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