Late-onset adrenoleukodystrophy associated with long-standing psychiatric symptoms

Background: It is not commonly appreciated that patients with adrenoleukody strophy (ALD) can first present in adulthood with psychiatric symptoms. Method: This case study involved a 31-year-old man who was referred for a n europsychiatric assessment of tardive dyskinesia and treatment-resistant ps ychosis. Upon neurologic examination, he was found to have spasticity, mark ed hy perreflexia with clonus, and bilateral Babinski signs. T-2-weighted m agnetic resonance imaging demonstrated severe white matter disease. Metabol ic screening revealed abnormalities of very long chain fatty acids consiste nt with the diagnosis of ALD. These results prompted us to review the liter ature on late-onset ALD with attention to (1) the nature of the associated psychiatric and neurologic symptoms, (2) the neuroimaging abnormalities ass ociated with this disorder, and (3) treatment considerations. Results: Individuals with adult-onset ALD may initially present with psychi atric symptomatology. Most commonly, these patients manifest signs of mania including disinhibition, impulsivity, increased spending, hypersexuality, loudness, and perseveration. ALD patients will often have upper motor neuro n findings on neurologic examination. Despite the name of the disease, pati ents with ALD may not have clinical evidence of adrenal dysfunction. Neuroi maging reveals diffuse, confluent white matter lesions that typically origi nate in the parieto-occipital region. Both neuroleptic and anticholinergic medications may result in significant side effects with little resolution o f the underlying psychiatric symptoms. Conclusion: This case study and review of the literature illustrate the imp ortance of performing neurologic and radiological examinations on all psych iatric patients with chronic illnesses. We emphasize the importance of reex amining and reimaging patients who are not responding to standard treatment . The clinical problem of "treatment resistance" should be seen as an indic ation that other diagnoses, such as an underlying metabolic disorder, need to be considered.