To highlight the diagnostic challenges of neuronal intranuclear inclusion disease (NIID) presenting as recurrent stroke-like episodes, particularly in the context of intracranial atherosclerotic stenosis, and their impact on patient management.
Key Findings:
The 'ribbon sign' on diffusion-weighted imaging is a key diagnostic indicator for NIID, suggesting a need for heightened awareness among clinicians.
Recurrent stroke-like episodes can occur in NIID, complicating diagnosis when coinciding with vascular stenosis, necessitating careful differential diagnosis.
A tissue biopsy can provide definitive diagnosis when genetic testing is inconclusive, underscoring the importance of a comprehensive diagnostic strategy.
Interpretation:
The case underscores the importance of recognizing NIID in patients with recurrent stroke-like symptoms, particularly when typical vascular risk factors are absent, which may alter management strategies.
Limitations:
The case is based on a single patient, limiting generalizability and necessitating further studies.
The diagnosis relies on specific imaging and biopsy findings, which may not be universally available, highlighting the need for broader diagnostic criteria.
Conclusion:
This case emphasizes the need for awareness of NIID as a potential mimic of ischemic stroke and the critical role of targeted diagnostic approaches, suggesting areas for future research.
