Abstract
A 6-year-old boy presented with 4 months progressive verbal comprehension difficulties, declining school performance, strabismus, and visual impairment. General examination noted moderate hypotension and hyperpigmented skin. Pertinent neurologic examination abnormalities included difficulty with comprehension, decreased visual acuity (20/50 bilaterally), disconjugate gaze, bilateral dysmetria, and unsteady gait. CSF protein was elevated (1.82 g/L). Brain MRI showed posterior cerebrum and brainstem abnormalities consistent with adrenoleukodystrophy1 (figure). Morning cortisol was decreased (21 nM) and 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 pathogenic ABCD1 mutation.
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