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Case Report: A Case of Creutzfeldt-Jakob Heidenhain Variant Simulating PRES.
Antonioni, Annibale; Raho, Emanuela Maria; Gozzi, Andrea; Cotta Ramusino, Niccolò; Cesnik, Edward; Padroni, Marina; De Vito, Alessandro; Pugliatti, Maura; Tugnoli, Valeria.
Afiliação
  • Antonioni A; Unit of Clinical Neurology, Department of Neurosciences and Rehabilitation, University of Ferrara, 44121 Ferrara, Italy.
  • Raho EM; Unit of Clinical Neurology, Department of Neurosciences and Rehabilitation, University of Ferrara, 44121 Ferrara, Italy.
  • Gozzi A; Unit of Clinical Neurology, Department of Neurosciences and Rehabilitation, University of Ferrara, 44121 Ferrara, Italy.
  • Cotta Ramusino N; Unit of Clinical Neurology, Department of Neurosciences and Rehabilitation, University of Ferrara, 44121 Ferrara, Italy.
  • Cesnik E; Neurology Unit, Department of Neurosciences and Rehabilitation, S. Anna University Hospital, 44124 Ferrara, Italy.
  • Padroni M; Neurology Unit, Department of Neurosciences and Rehabilitation, S. Anna University Hospital, 44124 Ferrara, Italy.
  • De Vito A; Neurology Unit, Department of Neurosciences and Rehabilitation, S. Anna University Hospital, 44124 Ferrara, Italy.
  • Pugliatti M; Unit of Clinical Neurology, Department of Neurosciences and Rehabilitation, University of Ferrara, 44121 Ferrara, Italy.
  • Tugnoli V; Neurology Unit, Department of Neurosciences and Rehabilitation, S. Anna University Hospital, 44124 Ferrara, Italy.
Diagnostics (Basel) ; 12(7)2022 Jun 27.
Article em En | MEDLINE | ID: mdl-35885464
ABSTRACT
The Heidenhain Variant of Creutzfeldt-Jakob disease (CJD) is an uncommon early clinical syndrome of the otherwise regular sporadic CJD, which belongs to the group of prion diseases caused by a transmissible agent, the misfolded form of the prion protein. The most characteristic symptoms of CJD are rapidly progressive cognitive impairment, typical motor manifestations and mental and behavioural changes. Conversely, in the Heidenhain Variant, different kinds of visual disturbances are observed at onset due to microvacuolar spongiform degeneration or, less frequently, confluent spongiform changes in the parieto-occipital area, detectable through brain MRI with hyperintensity in T2-FLAIR or DWI in the same areas. Since this an extremely rare condition with a heterogeneous clinical presentation, it may easily be misdiagnosed with other diseases at the earlier stages. Here, we describe the case of a patient initially diagnosed with posterior reversible encephalopathy syndrome (PRES), presenting with visual disturbances and headache at onset in a context of poorly controlled arterial hypertension. Subsequently, a rapid worsening of cognitive decline, associated with myoclonus and startle reaction led to further investigations, shifting the diagnosis toward a rapidly evolving neurodegenerative form. This hypothesis was also supported by EEG traces, MRI and CSF analysis. Finally, the clinical-instrumental evolution confirmed the diagnosis of Heidenhain Variant of CJD.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Diagnostics (Basel) Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Diagnostics (Basel) Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália