Twenty years of misdiagnosis of X-linked adrenoleukodystrophy: a case report

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.