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Case Report: A Case of Creutzfeldt-Jakob Heidenhain Variant Simulating PRES
Annibale Antonioni1, Emanuela Maria Raho1, Andrea Gozzi1
1Unit of Clinical Neurology, Department of Neurosciences and Rehabilitation, University of Ferrara, 44121 Ferrara, Italy.
Insights
The Heidenhain Variant of Creutzfeldt-Jakob disease (CJD) presents with visual disturbances, mimicking other conditions. This rare prion disease requires careful diagnosis due to its unique early symptoms.
Area of Science:
- Neurology
- Neuroscience
- Pathology
Background:
- Creutzfeldt-Jakob disease (CJD) is a rare, fatal prion disease.
- The Heidenhain Variant is an uncommon subtype of sporadic CJD.
- Prion diseases are caused by misfolded prion proteins.
Observation:
- Heidenhain Variant CJD typically manifests with visual disturbances.
- Parieto-occipital spongiform degeneration is observed on brain MRI.
- Initial symptoms can be misdiagnosed as PRES, especially with hypertension.
Findings:
- The case highlights diagnostic challenges of Heidenhain Variant CJD.
- Rapid cognitive decline, myoclonus, and startle reactions are key indicators.
- EEG, MRI, and CSF analysis support the diagnosis.
Implications:
- Early recognition of Heidenhain Variant CJD is crucial for accurate diagnosis.
- Distinguishing it from other neurological disorders improves patient management.
- Understanding this variant aids in prion disease research.
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.
