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Data from: Pearls & Oy-sters: Adolescent-onset adrenomyeloneuropathy and arrested cerebral adrenoleukodystrophy

Citation

Lin, Jieru E. et al. (2019), Data from: Pearls & Oy-sters: Adolescent-onset adrenomyeloneuropathy and arrested cerebral adrenoleukodystrophy, Dryad, Dataset, https://doi.org/10.5061/dryad.qk54fq6

Abstract

Pearls: Defects in peroxisomal transport interferes with β-oxidation of very long chain fatty acids (VLCFAs). Subsequent VLCFA accumulation triggers a cascade of events that eventually leads to adrenoleukodystrophy (ALD). Attention-deficit/hyperactivity disorder (ADHD) can be one of the early manifestations of childhood cerebral ALD (CCALD). Patients with adrenomyeloneuropathy (AMN) may have signs of occult self-halted CCALD on MRI, which can help point to a diagnosis of AMN. Oy-sters: AMN can present in adolescence, although it typically presents in adult men between 20 and 40 years of age, and at older age in women. MRI findings in the spinal cord could be normal or show minimal white matter involvement with significant bilateral spastic paraparesis. Blood pressure, glucose, and electrolytes can be normal in patients with adrenal insufficiency.

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