Osmotic demyelination syndrome diagnosed radiologically during Wilson's disease investigation.


Journal

European journal of neurology
ISSN: 1468-1331
Titre abrégé: Eur J Neurol
Pays: England
ID NLM: 9506311

Informations de publication

Date de publication:
02 2021
Historique:
received: 12 06 2020
accepted: 30 09 2020
pubmed: 7 10 2020
medline: 13 8 2021
entrez: 6 10 2020
Statut: ppublish

Résumé

Wilson's disease (WD), also known as hepatolenticular degeneration, is a rare autosomal recessive disorder that results from abnormal ceruloplasmin metabolism, with copper deposition affecting multiple systems. Osmotic demyelination syndrome (ODS) refers to acute demyelination seen in the setting of osmotic changes, typically with the rapid correction of electrolyte disturbance. We present a 29-year-old male patient diagnosed with WD 1 year after the onset of extrapyramidal symptoms. Magnetic resonance imaging performed during hospitalization showed two patterns of pons involvement, which allowed the diagnosis of ODS in addition to WD. Classic imaging findings were observed and illustrate perfectly these two conditions.

Identifiants

pubmed: 33022802
doi: 10.1111/ene.14573
doi:

Substances chimiques

Copper 789U1901C5
Ceruloplasmin EC 1.16.3.1

Types de publication

Case Reports

Langues

eng

Sous-ensembles de citation

IM

Pagination

726-728

Informations de copyright

© 2020 European Academy of Neurology.

Références

Hedera P. Update on the clinical management of Wilson’s disease. Appl Clin Genet 2017; 10: 9-19.
Ozgur A, Esen K, Kaleagasi H, et al. Bilateral thalamic lesions: a pictorial review. J Med Imaging Radiat Oncol 2017; 61: 353-360.
Zhong W, Huang Z, Tang X. A study of brain MRI characteristics and clinical features in 76 cases of Wilson's disease. J Clin Neurosci 2019; 59: 167-174.
Oliveira AM, Paulino MV, Vieira APF, et al. Imaging patterns of toxic and metabolic brain disorders. Radiographics 2019; 39: 1672-1695.

Auteurs

S F A Júnior (SFA)

Radiology Department, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.
Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Brazil.

N Ventura (N)

Radiology Department, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.
Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Brazil.

E Marchiori (E)

Radiology Department, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.

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