6-year-old boy with progressive neurologic decline Teaching NeuroImages Neurology Resident and Fellow Section © 2015 American Academy of Neurology.

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6-year-old boy with progressive neurologic decline Teaching NeuroImages Neurology Resident and Fellow Section © 2015 American Academy of Neurology

Vignette A 6-year-old boy presented with four months of progressive verbal comprehension difficulties, declining school performance, strabismus and visual impairment General examination noted moderate hypotension and hyperpigmented skin Pertinent abnormalities on neurologic exam included difficulty with comprehension, decreased visual acuity (20/50 bilaterally), dysconjugate gaze, bilateral dysmetria, and unsteady gait Myers et al © 2015 American Academy of Neurology

Imaging Myers et al © 2015 American Academy of Neurology

MRI Findings in X-Linked Adrenoleukodystrophy Cerebrospinal fluid analysis showed elevated protein (1.82 g/L) AM cortisol was decreased (21 nM) and follow- up adrenocorticotrophic hormone stimulation test confirmed adrenal insufficiency Diagnosis was confirmed by very long chain fatty acid analysis (elevated C26:0/C22:0 and C24:0/C22:0 ratios) and identification of a pathogenic mutation in the ABCD1 gene Myers et al © 2015 American Academy of Neurology