Carlos Méndez-Dávalos

El Síndrome de Brown Vialetto Van Laere (SBVVL), también conocido como Deficiencia del Transportador de Riboflavina, es un trastorno neurodegenerativo de herencia autosómica recesiva que se presenta con baja frecuencia. Este trastorno se asocia a mutaciones en los genes SLC52A2 y SLC52A3, responsables de codificar el transportador de riboflavina. Se manifiesta clínicamente por una parálisis ponto-bulbar progresiva y una hipoacusia neurosensorial. Presentamos el caso clínico de un niño de 1 año y 10 meses diagnosticado con SBVVL. Este paciente experimentó una parálisis ponto-bulbar progresiva, compromiso respiratorio e hipoacusia neurosensorial, pero mostró una respuesta positiva al tratamiento implementado. Mediante estudios genéticos, se identificó una mutación homocigótica en el gen SLC52A3, correspondiente a la variante c.1156T>C (p.Cys386Arg). Al realizar el estudio de segregación en los progenitores, se detectó la misma variante en estado heterocigótico. El Síndrome de Brown Vialetto Van Laere es una enfermedad potencialmente tratable, subrayando la importancia de su diagnóstico preciso y la implementación temprana de suplementación con riboflavina de forma empírica.

Objective: to provide evidence-based clinical recommendations for the diagnosis and treatment of Duchenne Muscular Dystrophy. Methods: a guideline development group (GEG) was formed that included specialized physicians in the fields of neurology, neuropediatrics, genetics, and methodology. The GEG asked eight clinical questions to be answered by recommendations in this clinical practice guidelines (CPG). We conducted a systematic search and - when deemed relevant - primary studies in Medline, Scopus, and the Cochrane Controlled Register of Trials during 2021 were reviewed. Evidence was selected to answer each of the clinical questions posed. Certainty of the evidence was assessed using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) system. In periodic work meetings, the GEG used the GRADE methodology to review the evidence and formulate recommendations, points of good clinical practice, and a diagnosis and treatment flowchart. Results: this CPG addressed eight clinical questions, divided into three topics: screening, diagnosis, and treatment. Based on these questions, fifteen recommendations were formulated (10 strong, 5 conditional) and 11 points for good clinical practice. Conclusion: this paper summarizes the methodology and evidence-based conclusions of the CPG for the diagnosis and treatment of Duchenne muscular dystrophy.