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Updated: Jan 7, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
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Manifestaciones Clínicas

Murat Gultekin1

  • 1Erciyes University School Of Medicine, Department of Neurology, Kayseri, Turkey.

Alzheimer's & dementia : the journal of the Alzheimer's Association
|December 25, 2025
PubMed
Resumen
Este resumen es generado por máquina.

La Adrenoleucodistrofia ligada al cromosoma X (X-ALD) puede presentarse en adultos con deterioro cognitivo y problemas neurológicos. El análisis genético confirmó la mutación del gen ABCD1, lo que resalta la importancia de reconocer la X-ALD de inicio en la edad adulta.

Palabras clave:
Adrenoleucodistrofia ligada al cromosoma XX-ALDABCD1deterioro cognitivoenfermedad neurológicadiagnóstico tardíoinforme de caso

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Área de la Ciencia:

  • Neurología; Genética; Enfermedades Raras

Sus antecedentes:

  • La Adrenoleucodistrofia ligada al cromosoma X (X-ALD) es un trastorno peroxisomal común que afecta a los varones, causado por mutaciones en el gen ABCD1.
  • Aunque generalmente se presenta en la infancia, la X-ALD puede manifestarse más tarde en la vida con síntomas cognitivos y conductuales.

Objetivo del estudio:

  • Informar un caso de Adrenoleucodistrofia ligada al cromosoma X de aparición tardía en un varón de 47 años.
  • Destacar las diversas presentaciones clínicas de la X-ALD de inicio en la edad adulta.

Principales métodos:

  • El análisis genético identificó una mutación homocigota en el gen ABCD1 (c.761C>T y p.T254M).
  • Se realizaron exámenes clínicos y neurológicos, incluida la RMN cerebral.

Principales resultados:

  • El paciente experimentó un historial de 12 años de deterioro cognitivo, alteración de la marcha, deterioro de la visión y espasticidad.
  • La RMN cerebral reveló cambios generalizados en la sustancia blanca y atrofia cortical global.
  • Las pruebas endocrinas no mostraron anomalías significativas.

Conclusiones:

  • La Adrenoleucodistrofia ligada al cromosoma X puede presentarse raramente en adultos con enfermedad progresiva de la sustancia blanca.
  • La X-ALD de inicio en la edad adulta puede manifestarse con síntomas clínicos variados, incluida la demencia.