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

Translated title of the contribution: 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

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-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 contribution	Adrenomyeloneuropathy as a form of presentation of adrenoleukodystrophy: Case report
Original language	English
Pages (from-to)	192-196
Number of pages	5
Journal	Neurologia Argentina
Volume	13
Issue number	3
DOIs	https://doi.org/10.1016/j.neuarg.2020.09.003
State	Published - 1 Jul 2021

Keywords

ABCD1 gene
Adrenomyeloneuropathy
Demyelinating polyneuropathy
Spastic paraparesis
Very long chain fatty acids

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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

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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.",

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doi = "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, vol. 13, no. 3, pp. 192-196. https://doi.org/10.1016/j.neuarg.2020.09.003

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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

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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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JO - Neurologia Argentina

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ER -

Adrenomyeloneuropathy as a form of presentation of adrenoleukodystrophy: Case report

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Keywords

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