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El síndrome asociado a MECOM abarca un espectro de alteraciones hematológicas y esqueléticas, siendo la insuficiencia medular grave una de sus principales manifestaciones. Se presenta el caso de un lactante masculino de siete meses que debutó a los dos meses de vida con pancitopenia severa hasta insuficiencia medular. Los estudios de médula ósea evidenciaron hipocelularidad con escasa hematopoyesis y megacariocitos hipolobulados, con cariotipo normal (46, XY). El exoma clínico identificó una nueva variante heterocigótica en el gen MECOM, clasificada como probablemente patogénica. Las radiografías descartaron sinostosis radiocubital u otras alteraciones óseas, ampliando el espectro geno-fenotípico de las variantes del MECOM.
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Derechos de autor 2026 Erika Jhohanna Arenas Contreras, William Alfonso Bárcenas Narvaez