ArticleAmerican journal of translational research2025
Twenty years of misdiagnosis of X-linked adrenoleukodystrophy: a case report.
Article in American journal of translational research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
X-linked adrenoleukodystrophies (x-ALDs) constitute a group of rare neurological disorders characterized by both genetic and clinical heterogeneity. The diagnostic process necessitates detecting elevated very long-chain fatty acid concentrations in conjunction with genetic analysis of the ATP-binding cassette transporter D1 (ABCD1) gene. This report presents a case of an atypical manifestation and clinical progression of x-ALD, which was initially misdiagnosed. A 38-year-old male patient with x-ALD exhibited progressively worsening gait disturbances and lower limb weakness. Over two decades of medical intervention, the patient had persistently been diagnosed and treated for hereditary spastic paraplegia. A novel hemizygous mutation in exon 1 (c.356dupC) of the ABCD1 gene was identified. The patient's diagnosis was subsequently revised to x-ALD. This case highlights the necessity of considering x-ALD as a potential differential diagnosis in patients presenting with gradually progressive spastic paraplegia.
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