Case Report: A Case of Creutzfeldt–Jakob Heidenhain Variant Simulating PRES

Autor: Annibale Antonioni, Emanuela Maria Raho, Andrea Gozzi, Niccolò Cotta Ramusino, Edward Cesnik, Marina Padroni, Alessandro De Vito, Maura Pugliatti, Valeria Tugnoli
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Diagnostics, Vol 12, Iss 7, p 1558 (2022)
Druh dokumentu: article
ISSN: 2075-4418
DOI: 10.3390/diagnostics12071558
Popis: 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.
Databáze: Directory of Open Access Journals
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