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Adrenomyeloneuropathy as a form of presentation of adrenoleukodystrophy: Case report

Original title: Adrenomyeloneuropathy as a form of presentation of adrenoleukodystrophy: Case report
  • María Ladera-Córdova
    ,
  • Cynthia Condori-Chacón
    ,
  • Oscar Rivera-Torrejón
    ,
  • ,
  • Karen Vásquez Quicaño
    ,
  • Anibal Terreros Palomino
  • Universidad Nacional Federico Villarreal
    ,
  • Universidad Científica del Sur
    ,
  • Universidad Nacional Mayor de San Marcos
    ,
  • REDECS
    ,
  • ,
  • Hospital Daniel Alcides Carrión
Research Output:
Contribution to journal
Article
Peer-review

Publication Information

Output type

Research Output:
Contribution to journal
Article
Peer-review

Original language

English

Pages from-to (Number of pages)

Pages 192-196 (5 pages)

Journal (Volume, Issue Number)

Neurologia Argentina (Volume 13, Issue 3)

Publication milestones

  • Accepted/In press - 2020
  • Published - 01/07/2021

Publication status

Published - 01/07/2021

ISSN

1853-0028

Publication IDs

  • Scopus: 85096367576

Abstract

Introduction: Adrenomyeloneuropathy is one of the manifestations of adrenoleukodystrophy-X, which is found within the 6 phenotypes of this neurodegenerative disorder. Case report: A 42-year-old male started the symptoms 22 years ago, characterized by a progressive paraparesis and difficulty in march, continuing in adulthood with gingival and mamilar hyperpigmentation, spastic paraparesis and hyperreflexia. The magnetic resonance of the spine showed alteration at the level of T2-T7, establishing the diagnosis by higher plasmatic values of very long chain fatty acids. Conclusions: A case of adrenomyeloneuropathy is reported in Peru that meets the clinical, imaging and laboratory criteria.