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||Adrenomyeloneuropathy as a form of presentation of adrenoleukodystrophy: Case report|
|Número de páginas||5|
|Estado||Publicada - 1 jul. 2021|
- ABCD1 gene
- Demyelinating polyneuropathy
- Spastic paraparesis
- Very long chain fatty acids