LAUSR

Received on June 22, 2020; Received in its final form on July 30, 2020; Accepted on September 19, 2020. A 27-year-old man presented with a two-year history of progressive ataxia. Family history was unremarkable. Examination revealed ataxia and alopecia. Serum cortisol levels were low, suggesting adrenal insufficiency. Brain magnetic resonance imaging (MRI) disclosed cerebellar white matter involvement (Figure 1). Exome sequencing showed homozygous mutations (c.268del p.Glu90Argfs*13) in the ABCD1 gene and confirmed X-linked adrenoleukodystrophy (X-ALD).