Abstract
X-linked adrenoleukodystrophy (X-ALD) is a maternally inherited peroxisomal disorder caused by single-gene mutations in ABCD1 that causes a broad spectrum of disease phenotypes in male patients and in female carriers. The most severe form, childhood cerebral adrenoleukodystrophy (CCALD), presents as an inflammatory demyelinating process with rapid progression of symptoms leading to profound neurologic disability. Presenting symptoms are most commonly behavioral changes and visual deficits related to a propensity for the disease to start in the posterior corpus callosum and occipital white matter. In this chapter, a typical presentation of X-ALD is described followed by a discussion of the genetics, pathophysiology, clinical spectrum, and current therapeutic options. Subsequently, several cases are used to illustrate variations in the clinical presentation with a discussion of screening in asymptomatic carriers, the differential diagnoses of isolated lesions of the corpus callosum, and clinical clues to differentiate X-ALD with acquired demyelinating diseases such as multiple sclerosis (MS).
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Acknowledgments
Thank you to Drs. Audrey Foster-Barber, Timothy Lotze, and Emmanuelle Waubant for helping to identify appropriate teaching cases and for their thoughtful critiques and guidance in the preparation of this manuscript. Thank you to Dr. Matthew Wood for his preparation and description of the neuropathology images.
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Bear, J.J. (2017). X-Linked Adrenoleukodystrophy. In: Waubant, E., Lotze, T. (eds) Pediatric Demyelinating Diseases of the Central Nervous System and Their Mimics. Springer, Cham. https://doi.org/10.1007/978-3-319-61407-6_19
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DOI: https://doi.org/10.1007/978-3-319-61407-6_19
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