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Enfermedad anti-IgLON-5 que se presenta con distonía axial y apnea sensible a la acetazolamida

Gwen Zeigler1, Miriam Quinlan1, Panayiotis N Varelas1

  • 1Department of Neurology, Albany Medical Center, 43 New Scotland Ave. MC-70, Albany, NY 12208, USA.

Clinical neurology and neurosurgery
|August 22, 2025
PubMed
Resumen

Este estudio de caso destaca la enfermedad anti-IgLON5 que se presenta con espasmos distónicos e hipoventilación central. La acetazolamida trató eficazmente la hipoventilación, un hallazgo novedoso para este raro trastorno neurológico autoinmune.

Palabras clave:
Acetazolamida y sus derivadosEl anti-IgLON5Apnea en el cuerpoLa distoníaInsuficiencia respiratoria

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Área de la Ciencia:

  • Neurología
  • Inmunología
  • Medicina del sueño

Sus antecedentes:

  • La enfermedad anti-inmunoglobulina IgLON5 (IgLON5) es una enfermedad autoinmune rara.
  • Se caracteriza por un espectro de síntomas neurológicos, incluidos trastornos del movimiento y trastornos del sueño.

Objetivo del estudio:

  • Informar de un caso de enfermedad anti-IgLON5 con distonía axial prominente e hipoventilación central.
  • Describir el uso novedoso y efectivo de la acetazolamida en el tratamiento de la hipoventilación central en esta condición.

Principales métodos:

  • Presentación clínica de un hombre de 67 años.
  • El diagnóstico incluyó resonancia magnética cerebral y análisis del líquido cefalorraquídeo (LCR) para detectar anticuerpos IgLON5.
  • El tratamiento incluyó inmunoterapia (IVIg, intercambio plasmático, rituximab) y acetazolamida.

Principales resultados:

  • La paciente presentaba espasmos distónicos cervicales y del tronco superior, alucinaciones y temblores en las manos.
  • El LCR confirmó la presencia de anticuerpos IgLON5.
  • Mientras que la inmunoterapia proporcionó una modesta mejoría de los síntomas, la acetazolamida resolvió efectivamente el empeoramiento de la hipoventilación central.
  • La distonía axial, específicamente el anterocolis, fue una característica significativa.

Conclusiones:

  • La distonía axial puede ser una manifestación prominente de la enfermedad anti-IgLON5.
  • La acetazolamida representa un tratamiento potencial para la hipoventilación central en la enfermedad anti-IgLON5, marcando su primer uso informado para esta indicación.