Identificación clínica, imagenológica y molecular del síndrome de Schinzel- Giedion en paciente pediátrico del suroccidente colombiano
Resumen
Introducción: El síndrome de Schinzel-Giedion (SGS) es un trastorno autosómico dominante ultrarraro que se caracteriza por un fenotipo con compromiso cognitivo severo, rasgos faciales distintivos y múltiples anomalías congénitas que involucra los sistemas cardiaco, esquelético, genitourinario y renal, además de asociarse a convulsiones y mortalidad prematura. Es causado por variantes en el gen SETBP1 que codifica para la proteína de unión a SET. Se han encontrado aproximadamente 88 casos a escala mundial, 33 de estos pacientes con diagnóstico molecular. El objetivo es describir a un paciente pediátrico colombiano con SGS en sus dimensiones clínica, imagenológica y molecular. Caso clínico: Se reporta el caso de un paciente masculino de 3 años y 6 meses, producto de primer embarazo de padres no consanguíneos sin antecedentes perinatales ni familiares, que presentó cuadro de convulsiones refractarias al manejo con inicio en el periodo neonatal, con facies dismórfica, retraso del neurodesarrollo, hipotonía, microcefalia y malformaciones genitales. Se le realizó estudio molecular mediante secuenciación del exoma completo y estudio genómico- bioinformático utilizando tecnología in-silico, encontrando una variante missense (c.2612T > C; p.Ile871Thr) en el gen SETBP1; por bioinformática se determinó que esta variante tenía un significado clínico patogénico. Conclusión: Este caso corresponde al primer reporte colombiano del SGS que logra proporcionar datos actualizados de la enfermedad, incluyendo presentación clínica, técnicas de neuroimagen y confirmación por estudios moleculares, bioinformáticos, que aportan al avance en el diagnóstico temprano.
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