X-linked adrenoleukodystrophy presenting as progressive ataxia and pure cerebellar involvement

Adrenoleucodistrofia ligada ao X apresentando-se como ataxia progressiva e envolvimento cerebelar isolado

Marianna Pinheiro Moraes de Moraes Augusto Bragança Reis Rosa Cristina Saade Jaques Victor Hugo Rocha Marussi José Luiz Pedroso Orlando Graziani Barsottini About the authors

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).

Figure 1
Patient with pure cerebellar ataxia related to X-linked adrenoleukodystrophy. Axial FLAIR-weighted brain MRI shows symmetrical cerebellar white matter and middle cerebellar peduncles hyperintense signal, besides pontocerebellar atrophy (A and B). Axial T2-weighted brain MRI discloses bilateral cerebellar white matter changes (C and D). Axial T1-weighted brain MRI reveals hypointense signal in cerebellar white matter (E). Axial FLAIR-weighted brain MRI shows no supratentorial abnormalities (F).

Several forms of hereditary ataxias remain undetermined, despite being largely investigated. Whole-exome sequencing is a useful diagnostic approach for undetermined ataxias11. Németh AH, Kwasniewska AC, Lise S, Schnekenberg RP, Becker EBE, Bera KD, et al. Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model. Brain. 2013 Oct;136(Pt 10):3106-18. https://doi.org/10.1093/brain/awt236
https://doi.org/10.1093/brain/awt236...
. Adult-onset X-ALD usually presents with behavioral changes, pyramidal signs, and white matter changes. Pure cerebellar white matter changes with progressive cerebellar ataxia are uncommon in X-ALD22. Chen YH, Lee YC, Tsai YS, Guo YC, Hsiao CT, Tsai PC, et al. Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia. PLoS One. 2017 May;12(5):e0177296. https://doi.org/10.1371/journal.pone.0177296
https://doi.org/10.1371/journal.pone.017...
.

References

  • 1
    Németh AH, Kwasniewska AC, Lise S, Schnekenberg RP, Becker EBE, Bera KD, et al. Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model. Brain. 2013 Oct;136(Pt 10):3106-18. https://doi.org/10.1093/brain/awt236
    » https://doi.org/10.1093/brain/awt236
  • 2
    Chen YH, Lee YC, Tsai YS, Guo YC, Hsiao CT, Tsai PC, et al. Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia. PLoS One. 2017 May;12(5):e0177296. https://doi.org/10.1371/journal.pone.0177296
    » https://doi.org/10.1371/journal.pone.0177296

Publication Dates

  • Publication in this collection
    21 June 2021
  • Date of issue
    May 2021

History

  • Received
    22 June 2020
  • Reviewed
    30 July 2020
  • Accepted
    19 Sept 2020
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