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

Abstract

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 threegenerational 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. 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 .