Osmotic demyelination syndrome diagnosed radiologically during Wilson’s disease investigation

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...

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Veröffentlicht in:European journal of neurology 2021-02, Vol.28 (2), p.726-728
Hauptverfasser: Júnior, S. F. A., Ventura, N., Marchiori, E.
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Sprache:eng
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Zusammenfassung: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. A 29‐year‐old male patient presented with a 1‐year history of progressive slowing of movements with stiffness, dysarthria, and dysphagia. Magnetic resonance imaging performed during hospitalization showed two patterns of pons involvement, which allowed the diagnosis of osmotic demyelination syndrome in addition to Wilson’s disease. Classic imaging findings were observed and illustrate perfectly these two conditions. We intend to highlight the important role of the radiologists in suggesting unforeseen diseases and the need for combined assessment by radiologists and neurologists in the establishment of proper diagnoses.
ISSN:1351-5101
1468-1331
DOI:10.1111/ene.14573