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

Adrenoleucodistrofia ligada ao X forma cerebral do adulto manifestando como transtorno obsessivo-compulsivo

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.

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).

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.

References

• ¹
  Engelen M, Kemp S, de Visser M, van Geel BM, Wanders RJ, Aubourg P, et al. X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. Orphanet J Rare Dis. 2012 Aug;7(1):51. https://doi.org/10.1186/1750-1172-7-51
  » https://doi.org/10.1186/1750-1172-7-51
• ²
  Sutovský S, Petrovic R, Chandoga J, Turcáni P. Adult onset cerebral form of X-linked adrenoleukodystrophy with dementia of frontal lobe type with new L160P mutation in ABCD1 gene. J Neurol Sci. 2007 Dec;263(1-2):149-53. https://doi.org/10.1016/j.jns.2007.01.082
  » https://doi.org/10.1016/j.jns.2007.01.082
• ³
  Garside S, Rosebush PI, Levinson AJ, Mazurek MF. Late-onset adrenoleukodystrophy associated with long-standing psychiatric symptoms. J Clin Psychiatry. 1999 Jul;60(7):460-8. https://doi.org/10.4088/JCP.v60n0708
  » https://doi.org/10.4088/JCP.v60n0708
• ⁴
  Galvão AC, Machado-Porto GC, Porto FH, Lucato LT, Nitrini R. Adult-onset adrenoleukodystrophy presenting as a psychiatric disorder: MRI findings. Dement Neuropsychol. 2012 Oct-Dec;6(4):290-5. https://doi.org/10.1590/S1980-57642012DN06040015
  » https://doi.org/10.1590/S1980-57642012DN06040015

Publication Dates

• Publication in this collection
  20 Jan 2020
• Date of issue
  Feb 2020

History

• Received
  09 Feb 2019
• Accepted
  19 June 2019