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A Case of Neuronal Intranuclear Inclusion Disease Mimicking Acute Stroke
Junki Yoshimura1, Toshiyuki Hayashi1, Yu Kashimoto1
1Department of Neurology, Nippon Medical School, Japan.
Internal Medicine (Tokyo, Japan)
|April 23, 2026
Summary
Neuronal intranuclear inclusion disease (NIID) can mimic stroke. Early signs include paravermal FLAIR hyperintensity on MRI, preceding characteristic DWI changes, aiding timely diagnosis of this rare neurodegenerative condition.
Area of Science:
- Neurology
- Neurodegenerative Diseases
- Neuroimaging
Background:
- Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder.
- It presents with diverse neurological symptoms, including encephalitis-like, stroke-like episodes, and seizures.
- Accurate and timely diagnosis can be challenging due to varied clinical and imaging findings.
Purpose of the Study:
- To report a case of NIID presenting with recurrent stroke-like attacks.
- To highlight the diagnostic utility of specific MRI findings in NIID.
- To emphasize the importance of considering NIID in patients with unexplained cerebrovascular events.
Main Methods:
- Case report of a female patient with recurrent stroke-like episodes.
- Cerebral MRI including diffusion-weighted imaging (DWI) and FLAIR sequences.
- Genetic analysis for GGC repeat expansion in NOTCH2NLC.
- Retrospective review of serial brain MRIs.
Main Results:
- The patient experienced transient stenosis and hypoperfusion of the left middle cerebral artery, initially misdiagnosed as infarction.
- Diagnosis of NIID was confirmed by GGC repeat expansion in NOTCH2NLC.
- Characteristic corticomedullary junction (CMJ) hyperintensity on DWI and paravermal FLAIR hyperintensity were identified.
- Paravermal FLAIR hyperintensity appeared earlier than CMJ hyperintensity on DWI.
Conclusions:
- NIID should be considered in patients with recurrent stroke-like episodes and reversible cerebrovascular changes.
- Paravermal FLAIR hyperintensity on MRI is an important early diagnostic clue for NIID, even before characteristic DWI abnormalities.
- Early identification of NIID facilitates appropriate management and genetic counseling.
Keywords:
NIIDdiffusion-weighted imagingneuronal intranuclear inclusion diseaseperfusionstroke mimicstroke-like attackMore Related Videos
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