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Defecto Digenético Funcional de B12 y Folato que Imita la Mielodisplasia

Thomas Cluzeau¹, Abderrahim Oussalah^2,3,4, Maël Silva Rodriguez^2,3,4

¹CHU Nice-Hôpital de l'Archet 1 Nice France.

Clinical case reports

|January 26, 2026

Resumen

Un raro trastorno genético causó una deficiencia funcional de vitamina B12 y folato, lo que provocó pancitopenia y problemas neurológicos. El diagnóstico y tratamiento oportunos con vitamina B12 condujeron a una rápida recuperación.

Área de la Ciencia:

Hematología
Genética
Trastornos Metabólicos

Sus antecedentes:

La pancitopenia y los síntomas neurológicos pueden imitar los síndromes mielodisplásicos.
Los factores genéticos pueden provocar deficiencias funcionales de vitaminas.

Objetivo del estudio:

Informar un caso de pancitopenia y signos neurológicos causados por un defecto digenético.
Destacar la importancia de la detección genética y metabólica en citopenias atípicas.

Principales métodos:

El análisis genético identificó mutaciones en los genes CUBN y MTHFR.
El cribado metabólico reveló niveles elevados de ácido metilmalónico y homocisteína.
Evaluación clínica de la pancitopenia y los signos neurológicos.

Principales resultados:

Se identificó un defecto digenético en CUBN y MTHFR.
Se confirmó la deficiencia funcional de vitamina B12 y folato.
El paciente experimentó una rápida remisión de los síntomas tras la administración parenteral de vitamina B12.

Conclusiones:

Los defectos digenéticos pueden causar presentaciones hematológicas y neurológicas complejas.
Las evaluaciones metabólicas y genéticas son cruciales para el diagnóstico de citopenias atípicas.
La intervención temprana con suplementación vitamínica adecuada puede conducir a resultados favorables.

Palabras clave:

mecanismo digenético folato mielodisplasia vitamina B12

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