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Journal of Pediatric Neurology 2021; 19(06): 377-383
DOI: 10.1055/s-0041-1727143
Review Article

Fulminating Autoimmune Demyelination with Optic Neuropathy in a Case of Pediatric Cerebral Adrenoleukodystrophy: Case Report and Review of the Literature

Kanya Singhapakdi
1   Department of Pediatrics, University of South Alabama, Mobile, Alabama, United States
,
Kamal Sharma 
2   Department of Pediatric Critical Care, Pediatric Critical Care Division, University of South Alabama, Mobile, Alabama, United States
,
Paul Maertens
3   Department of Neurology, Child Neurology Division, University of South Alabama, Mobile, Alabama, United States
› Author Affiliations Funding None.
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Abstract

X-linked adrenoleukodystrophy (ALD) is a leukodystrophy characterized not only by progressive loss of myelin in the central nervous system due to dysmyelination, but also by acute, subacute, or chronic inflammatory demyelination. This results in the phenotypic variability of cerebral ALD (cerALD), which is independent of the genotype. In this article, we reported a fulminant presentation with fluctuating encephalopathy and visual loss in a patient with childhood onset cerALD. Brain MRI showed symmetric confluent occipito-temporal demyelination with severe disruption of the blood–brain barrier and prechiasmal optic neuropathy. The patient's cerebral spinal fluid (CSF) demonstrated an elevated IgG index, myelin basic proteins, and oligoclonal bands. Within 48 hours of receiving immunomodulating therapy, the patient's symptoms of psychomotor slowing, visual impairment, and areflexia partially resolved. High plasma C26:0 levels and high ratios of C24/22 and C26/22 were diagnostic of ALD. It has been shown that environmental factors play an important role in the inflammatory demyelination responsible for the severe phenotypes of cerALD.

Keywords

optic nerve atrophy - X-linked adrenoleukodystrophy - cerebral ALD - oligoclonal bands

Note

Informed consent was received from the patient's family for the writing of this manuscript. This case was previously presented at the annual meeting of Society for the Study of Inborn Errors of Metabolism (SSIEM) 2019.




Publication History

Received: 19 December 2020

Accepted: 21 February 2021

Article published online:
21 May 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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