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Psychiatric disease in an adolescent as a harbinger of cerebral X-linked adrenoleukodystrophy
  1. Jessica Smith1,
  2. Mitchel T Williams2,
  3. Vinod K Misra3
  1. 1Departments of Obstetrics and Gynecology and Pediatrics, Division of Genetic, Genomic and Metabolic Disorders, Wayne State University School of Medicine, Detroit, Michigan, USA
  2. 2Department of Pediatrics, Division of Pediatric Neurology, Wayne State University School of Medicine, Detroit, Michigan, USA
  3. 3Department of Pediatrics, Division of Genetic, Genomic and Metabolic Disorders, Wayne State University School of Medicine, Detroit, Michigan, USA
  1. Correspondence to Dr Vinod K Misra, Department of Pediatrics, Division of Genetic, Genomic and Metabolic Disorders, Wayne State University Medical School, Children’s Hospital of Michigan, Detroit, MI 48201, USA; vmisra{at}med.wayne.edu

Abstract

X-linked adrenoleukodystrophy (XALD) typically presents as a childhood cerebral demyelinating form, as an adult-onset adrenomyeloneuropathy or as adrenocortical insufficiency. Cerebral demyelination presenting in adolescence is unusual. We present an 17-year-old boy with adolescent-onset XALD initially manifesting with slowly progressive psychiatric symptoms. He was initially diagnosed with attention-deficit hyperactivity disorder and an acute psychosis. However, he was ultimately diagnosed with XALD based on his clinical course, neuroimaging findings and biochemical abnormalities. This case reiterates the atypical presentations of adolescent-onset cerebral XALD that may go unrecognised and misdiagnosed as a neurodevelopmental or psychiatric disease. Treatments for cerebral ALD are potentially life-saving, particularly when given early in the disease course.

  • adrenoleukodystrophy
  • clinical neurology
  • psychiatry
  • neuroregression
  • acute psychosis

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Footnotes

  • Contributors All authors made substantial contributions to the conception this work; including the acquisition and interpretation of patient information for this report. All authors participated in drafting and revising the manuscript. All authors have given final approval of the version to be published. All authors agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned. This paper was reviewed by Robin Lachmann, London, UK.

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