Adrenomyeloneuropathy as a form of presentation of adrenoleukodystrophy: Case report

María Ladera-Córdova, Cynthia Condori-Chacón, Oscar Rivera-Torrejón, Carlos Alva-Díaz, Karen Vásquez Quicaño, Anibal Terreros Palomino, Nicanor Mori-Quispe, Uliana Shchegolikhina, Roberto Romero-Sánchez, Kevin Pacheco-Barrios

Research output: Contribution to journalArticlepeer-review

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.

Translated title of the contributionAdrenomyeloneuropathy as a form of presentation of adrenoleukodystrophy: Case report
Original languageSpanish
Pages (from-to)192-196
Number of pages5
JournalNeurologia Argentina
Volume13
Issue number3
DOIs
StatePublished - 1 Jul 2021

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