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

doi:10.1016/j.neuarg.2020.09.003

Adrenomyeloneuropathy as a form of presentation of adrenoleukodystrophy: Case report

Título traducido de la contribución: Adrenomieloneuropatía como forma de presentación de adrenoleucodistrofia: reporte de caso

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

^*Autor correspondiente de este trabajo

Producción científica: Contribución a una revista › Artículo › revisión exhaustiva

Resumen

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.

Título traducido de la contribución	Adrenomieloneuropatía como forma de presentación de adrenoleucodistrofia: reporte de caso
Idioma original	Inglés
Páginas (desde-hasta)	192-196
Número de páginas	5
Publicación	Neurologia Argentina
Volumen	13
N.º	3
DOI	https://doi.org/10.1016/j.neuarg.2020.09.003
Estado	Publicada - 1 jul. 2021

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10.1016/j.neuarg.2020.09.003

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Ladera-Córdova, M., Condori-Chacón, C., Rivera-Torrejón, O., Alva-Díaz, C., Vásquez Quicaño, K., Terreros Palomino, A., Mori-Quispe, N., Shchegolikhina, U., Romero-Sánchez, R., & Pacheco-Barrios, K. (2021). Adrenomyeloneuropathy as a form of presentation of adrenoleukodystrophy: Case report. Neurologia Argentina, 13(3), 192-196. https://doi.org/10.1016/j.neuarg.2020.09.003

@article{09119a2eae154c5bb77ece381feca787,

title = "Adrenomyeloneuropathy as a form of presentation of adrenoleukodystrophy: Case report",

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.",

keywords = "ABCD1 gene, Adrenomyeloneuropathy, Demyelinating polyneuropathy, Spastic paraparesis, Very long chain fatty acids",

author = "Mar{\'i}a Ladera-C{\'o}rdova and Cynthia Condori-Chac{\'o}n and Oscar Rivera-Torrej{\'o}n and Carlos Alva-D{\'i}az and {V{\'a}squez Quica{\~n}o}, Karen and {Terreros Palomino}, Anibal and Nicanor Mori-Quispe and Uliana Shchegolikhina and Roberto Romero-S{\'a}nchez and Kevin Pacheco-Barrios",

note = "Publisher Copyright: {\textcopyright} 2020 Sociedad Neurol{\'o}gica Argentina",

year = "2021",

month = jul,

day = "1",

doi = "10.1016/j.neuarg.2020.09.003",

language = "Ingl{\'e}s",

volume = "13",

pages = "192--196",

journal = "Neurologia Argentina",

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Ladera-Córdova, M, Condori-Chacón, C, Rivera-Torrejón, O, Alva-Díaz, C, Vásquez Quicaño, K, Terreros Palomino, A, Mori-Quispe, N, Shchegolikhina, U, Romero-Sánchez, R & Pacheco-Barrios, K 2021, 'Adrenomyeloneuropathy as a form of presentation of adrenoleukodystrophy: Case report', Neurologia Argentina, vol. 13, n.º 3, pp. 192-196. https://doi.org/10.1016/j.neuarg.2020.09.003

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T1 - Adrenomyeloneuropathy as a form of presentation of adrenoleukodystrophy

T2 - Case report

AU - Ladera-Córdova, María

AU - Condori-Chacón, Cynthia

AU - Rivera-Torrejón, Oscar

AU - Alva-Díaz, Carlos

AU - Vásquez Quicaño, Karen

AU - Terreros Palomino, Anibal

AU - Mori-Quispe, Nicanor

AU - Shchegolikhina, Uliana

AU - Romero-Sánchez, Roberto

AU - Pacheco-Barrios, Kevin

PY - 2021/7/1

Y1 - 2021/7/1

N2 - 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.

AB - 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.

KW - ABCD1 gene

KW - Adrenomyeloneuropathy

KW - Demyelinating polyneuropathy

KW - Spastic paraparesis

KW - Very long chain fatty acids

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DO - 10.1016/j.neuarg.2020.09.003

M3 - Artículo

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JO - Neurologia Argentina

JF - Neurologia Argentina

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ER -

Adrenomyeloneuropathy as a form of presentation of adrenoleukodystrophy: Case report

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