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Una nueva mutación que causa la enfermedad de Alexander en adultos que se presenta como un tumor de la columna

Nadja Saric¹, Maximilian Rink², Beate Schoch¹

¹Abteilung für Neurochirurgie, Gemeinschaftsklinikum Mittelrhein gGmbH, Koblenz, Germany.

Fortschritte der Neurologie-Psychiatrie

|February 6, 2026

Resumen

Este informe detalla una nueva mutación genética que causa la enfermedad de Alexander en un paciente adulto. A pesar de la intervención microquirúrgica y la rehabilitación, los síntomas neurológicos persistieron, lo que resalta la compleja progresión de la enfermedad.

Área de la Ciencia:

Neurología
Genética
Enfermedades Raras

Sus antecedentes:

La enfermedad de Alexander es un trastorno neurológico raro y progresivo.
Típicamente se presenta en la infancia o la niñez, la aparición en adultos es infrecuente.
Se caracteriza por anomalías de la sustancia blanca en el cerebro.

Objetivo del estudio:

Informar sobre un caso de enfermedad de Alexander de aparición tardía.
Describir una mutación genética previamente desconocida asociada con la afección.
Documentar el curso clínico y el manejo de esta rara presentación.

Principales métodos:

Informe de caso de un paciente de 47 años con síntomas neurológicos.
Confirmación diagnóstica mediante resección parcial microquirúrgica.
Observación clínica de la persistencia de los síntomas después de la cirugía.

Principales resultados:

Diagnóstico de la enfermedad de Alexander confirmado.
Identificación de una nueva mutación genética.
Síntomas neurológicos persistentes a pesar de la intervención quirúrgica.

Conclusiones:

La enfermedad de Alexander puede manifestarse en la edad adulta tardía con nuevas mutaciones genéticas.
La resección microquirúrgica puede no resolver los síntomas en casos de aparición en adultos.
La rehabilitación interdisciplinaria es crucial para el manejo de los síntomas persistentes.

Palabras clave:

Enfermedad de Alexander mutación genética aparición tardía diagnóstico tratamiento rehabilitación neurología genética enfermedades raras

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