Title
Adrenomyeloneuropathy as a form of presentation of adrenoleukodystrophy: Case report
Other title
Adrenomieloneuropatía como forma de presentación de adrenoleucodistrofia: reporte de caso
Date Issued
01 July 2021
Access level
metadata only access
Resource Type
journal article
Author(s)
Ladera-Córdova M.
Condori-Chacón C.
Rivera-Torrejón O.
Vásquez Quicaño K.
Terreros Palomino A.
Shchegolikhina U.
Romero-Sánchez R.
Publisher(s)
Ediciones Doyma, S.L.
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.
Start page
192
End page
196
Volume
13
Issue
3
Language
English
OCDE Knowledge area
Neurología clínica Radiología, Medicina nuclear, Imágenes médicas Andrología
Scopus EID
2-s2.0-85096367576
Source
Neurologia Argentina
ISSN of the container
18530028
Sources of information: Directorio de Producción Científica Scopus