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CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2020; 78(02): 126-127
DOI: 10.1590/0004-282X20190115
IMAGES IN NEUROLOGY

Adult-onset cerebral X-linked adrenoleukodystrophy presenting as obsessive-compulsive disorder

Adrenoleucodistrofia ligada ao X forma cerebral do adulto manifestando como transtorno obsessivo-compulsivo
Wladimir Bocca Vieira de Rezende PINTO 
1   Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, São Paulo SP, Brasil.
,
Mário Teruo YANAGIURA
1   Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, São Paulo SP, Brasil.
,
Bruno de Mattos Lombardi BADIA 
1   Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, São Paulo SP, Brasil.
,
Luiz Henrique Libardi SILVA
1   Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, São Paulo SP, Brasil.
,
Igor Braga FARIAS
1   Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, São Paulo SP, Brasil.
,
Paulo Victor Sgobbi de SOUZA 
1   Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, São Paulo SP, Brasil.
,
Acary Souza Bulle OLIVEIRA 
1   Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, São Paulo SP, Brasil.
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A 35-year-old man presented with a five-year history of obsessive-compulsive disorder with excessive hand washing ([Figure 1]). Maternal family history disclosed a three-generational antecedent of childhood and adult-onset X-linked adrenoleukodystrophy (X-ALD). Examination showed global brisk tendon reflexes and bilateral Babinski sign. Neuroimaging studies showed periventricular white matter lesions ([Figure 2]). Plasma very-long chain fatty acid concentrations were suggestive of X-ALD. Genetic analysis revealed a definite pathogenic variant (c.311G > A; p.Arg104His) in the ABCD1 gene, confirming the diagnosis of adult-onset cerebral X-ALD.

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Figure 1 Examination findings in obsessive-compulsive behavior in adult-onset cerebral X-linked adrenoleukodystrophy. (A-C) Ectoscopic evaluation revealed the presence of excoriations and superficial traumatic exfoliations of the epidermis in the extensor surface of hands and forearms (white arrows).
Zoom Image
Figure 2 Neuroimaging studies in adult-onset cerebral X-linked adrenoleukodystrophy. (A) Sagittal and (B) coronal brain MR imaging showing confluent asymmetric periventricular hyperintense lesions in FLAIR sequence. Axial brain MR imaging also revealed the involvement of the corpus callosum and internal capsule in FLAIR (C) and T2-weighted images (D).

Personality changes, psychotic symptoms and obsessive-compulsive disorder may be the presenting features of adult-onset cerebral X-ALD[1],[2],[3], preceding the onset of motor compromise[1],[2],[4].



Publication History

Received: 09 February 2019

Accepted: 19 June 2019

Article published online:
13 June 2023

© 2019. 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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