Adult-Onset Adrenoleukodystrophy

X-linked adult-onset adrenoleukodystrophy (ALD) presents with manic symptoms, melanoderma, cognitive decline, dysarthria, visual abnormalities, seizures, urinary incontinence, bilateral lower limb tingling, and spasticity.³ Adult-onset ALD represents 1-3% of all ALD phenotypes.¹ Age of onset ranges from 23-36 years.³ Pathogenesis involves a missense mutation in the ABCD1 gene.³ Diagnosis is confirmed by elevated very long chain fatty acids (C24 -C26) and genetic testing.³ Differentials include metachromatic leukodystrophy, Krabbe disease, and multiple sclerosis.³ Prominent neuropsychiatric symptoms, and MRI-FLAIR sequences exhibiting bilateral confluent, parieto-occipital white matter hyper-intensities with characteristic peripheral linear contrast enhancement, help differentiate this condition from other phenotypes.^1,2,3 Early diagnosis is vital, as bone marrow transplantation has shown benefits in asymptomatic patients.^2,3

References:

1. Luda E, Barisone MG. Adult-onset adrenoleukodystrophy: a clinical and neuropsychological study. Neurol Sci. 2001;22(1):21-25; doi:10.1007/s100720170032
2. Galvão ACR, Machado-Porto GCL, Porto FHG, Lucato LT, Nitrini R. Adult-onset adrenoleukodystrophy presenting as a psychiatric disorder: MRI findings. Dement Neuropsychol. 2012;6(4):290-295; doi:10.1590/S1980-57642012DN06040015
3. Rosebush PI, Garside S, Levinson AJ, Mazurek MF. The neuropsychiatry of adult-onset adrenoleukodystrophy. J Neuropsychiatry Clin Neurosci. 1999;11(3):315-327; doi:10.1176/jnp.11.3.315

Thomas J, Khan F.; e-pearl American Academy of Neurology

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