• Yan Chen, Daojing Li, Peng Xu, Aimei Zhang, Xu Chen, and Yun Chen.
• Department of Clinical Medicine, Jining Medical University, Jining, China.
• Medicine (Baltimore). 2024 Jan 12; 103 (2): e36946e36946.

RationaleAdrenomyeloneuropathy (AMN) is a variant type of X-linked adrenoleukodystrophy, and it is a genetic metabolic disease with strong clinical heterogeneity so that it is easily misdiagnosed and underdiagnosed. Moreover, most patients with AMN have an insidious clinical onset and slow progression. Familiarity with the pathogenesis, clinical features, diagnosis, and treatment of AMN can help identify the disease at an early stage.Patient ConcernsWe present a case of 35-year-old male, who was admitted to our hospital due to "immobility of the lower limbs for 2 years and worsening for half a year," accompanied by skin darkening and hyperpigmentation of lips, oral mucosa, and areola since puberty.DiagnosisThe level of very long-chain fatty acids was high and genetic testing depicted that exon 1 of the ABCD1 gene had a missense mutation of C.761c>T, which was diagnosed as AMN.InterventionsBaclofen was administered to improve muscle tension combined with glucocorticoid replacement therapy.OutcomesThe condition was relieved after half a year.LessonsThe clinical manifestations of AMN are diverse. When patients with adrenocortical dysfunction complicated with progressive spastic paraplegia of lower limbs are involved, AMN should be highly suspected, and the determination of very long-chain fatty acids and genetic testing should be performed as soon as possible to confirm the diagnosis because early treatment can help prevent or delay the progression of the disease.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

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