Mild phenotype in an adult male with X‐linked adrenoleukodystrophy – case report

Horn, Morten Andreas; Mikaelsen, Karin B. M.; Ferdinandusse, Sacha; Jørum, Ellen; Mellgren, Svein Ivar; Retterstøl, Lars; Wanders, Ronald J. A.; Tallaksen, Chantal

doi:10.1002/ccr3.434

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2020

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Cited by 2 publications

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“…Later investigations revealed a diagnosis of X-linked adrenoleukodystrophy without any contributory family history. Phenotypic variation can be great in adult-onset subtypes of X-ALD [14].…”

Section: Discussionmentioning

confidence: 99%

Adult-Onset Cerebral Adrenoleukodystrophy Without Adrenal Gland Involvement

Bachuwa

Wiggins

Bachuwa

2020

Cureus

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X-linked adrenoleukodystrophy (X-ALD) is a metabolic disorder characterized by endocrine and neurological degeneration. A rare and variegated entity in adults, diagnosis is often a significant challenge and can lead to extensive testing, including invasive procedures if clinical suspicion is not high. We present the case of a 46-year-old-male with neurological dysfunction that is uncommon in X-ALD with preserved adrenocortical function. Initially misdiagnosed with multiple sclerosis, the patient faced a significant neurological and cognitive decline in a short follow-up time frame, ultimately losing meaningful independent function. Emphasis is placed on criteria for appropriate discernment based on imaging studies and previous literature data. We also highlight the value of shared decision making to maximize the quality of life in such advanced stage neurodegenerative disorders.

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Section: Discussionmentioning

confidence: 99%