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

Kanya Singhapakdi; Kamal Sharma; Paul Maertens

doi:10.1055/s-0041-1727143

Journal of Pediatric Neurology, Inhaltsverzeichnis

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

Autor*innen

Kanya Singhapakdi

¹Department of Pediatrics, University of South Alabama, Mobile, Alabama, United States
Kamal Sharma

²Department of Pediatric Critical Care, Pediatric Critical Care Division, University of South Alabama, Mobile, Alabama, United States
Paul Maertens

³Department of Neurology, Child Neurology Division, University of South Alabama, Mobile, Alabama, United States

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

Volltext

Referenzen

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