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CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2021; 79(05): 463-464
DOI: 10.1590/0004-282X-ANP-2020-0294
Images in Neurology

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 
1   Universidade Federal de São Paulo, Unidade de Ataxia, Departamento de Neurologia, São Paulo SP, Brazil.
,
Augusto Bragança Reis Rosa 
1   Universidade Federal de São Paulo, Unidade de Ataxia, Departamento de Neurologia, São Paulo SP, Brazil.
,
Cristina Saade Jaques 
1   Universidade Federal de São Paulo, Unidade de Ataxia, Departamento de Neurologia, São Paulo SP, Brazil.
,
Victor Hugo Rocha Marussi 
2   Hospital Beneficência Portuguesa de São Paulo, Departamento de Neurorradiologia, São Paulo SP, Brazil.
3   Universidade Federal de São Paulo, Departamento de Radiologia, Divisão de Neurorradiologia, São Paulo SP, Brazil.
,
José Luiz Pedroso 
1   Universidade Federal de São Paulo, Unidade de Ataxia, Departamento de Neurologia, São Paulo SP, Brazil.
,
Orlando Graziani Barsottini 
1   Universidade Federal de São Paulo, Unidade de Ataxia, Departamento de Neurologia, São Paulo SP, Brazil.
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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).

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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 ataxias[1]. 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-ALD[2].

Authors’ contributions:

Moraes MPM, Rosa ABR, Jaques CS, Marussi VHR, Pedroso JL and Barsottini OG: case report project: conception, organization, execution; manuscript: writing of the first draft, review and critique.




Publication History

Received: 22 June 2020

Accepted: 19 September 2020

Article published online:
07 June 2023

© 2021. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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  • References

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  • 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