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SAGE Open Med Case Rep. 2017 Nov 21;5:2050313X17741009. doi: 10.1177/2050313X17741009. eCollection 2017.

X-linked adult-onset adrenoleukodystrophy: Psychiatric and neurological manifestations.

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Saba University School of Medicine, Devens, MA, USA.
St. Elizabeth's Hospital, Washington, DC, USA.


Adult-onset adrenoleukodystrophy is a rare x-linked inborn error of metabolism occurring predominantly in males with onset in early 30s. Here, we report a 34-year-old male with first signs of disease in early 20s manifesting as a pure psychiatric disorder. Prior to onset of neurological symptoms, this patient demonstrated a schizophrenia and bipolar-like presentation. The disease progressed over the next 10-13 years and his memory and motor problems became evident around the age of 33 years. Subsequently, diagnostic testing showed the typical magnetic resonance imaging and lab findings for adult-onset adrenoleukodystrophy. This case highlights adult-onset adrenoleukodystrophy which may present as a pure psychiatric disturbance in early adulthood and briefly discusses the prolonged time between the onset of psychiatric symptoms and the onset of neurological disease.


Adrenoleukodystrophy; clinical manifestations; neurological; psychiatric; x-linked

Conflict of interest statement

Declaration of conflicting interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

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