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Neuronal Intranuclear Inclusion Disease Mimicking Chronic Inflammatory Demyelinating Polyradiculoneuropathy: A Case

Shih-Chieh Chen1, Yi-Hao Chen2,3, Shih-Yu Fang2,3

  • 1Department of Internal Medicine, Kaohsiung Armed Forces General Hospital, Kaohsiung, Taiwan.

Acta Neurologica Taiwanica
|December 30, 2025
PubMed
Summary

Neuronal intranuclear inclusion disease (NIID) can mimic Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP). Early recognition of NIID is crucial, especially when CIDP treatments fail, to ensure accurate diagnosis and effective patient management.

Keywords:
Case reportchronic inflammatory demyelinating polyradiculoneuropathydemyelinating diseasesneuronal intranuclear inclusion diseasevascular leukoencephalopathy

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Area of Science:

  • Neurology
  • Neurodegenerative Diseases
  • Peripheral Neuropathies

Background:

  • Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP) is an inflammatory neuropathy with specific clinical and electrophysiological features.
  • Several conditions can mimic CIDP, necessitating careful differential diagnosis for optimal treatment.
  • Neuronal Intranuclear Inclusion Disease (NIID) is a rare neurodegenerative disorder with varied presentations, sometimes resembling CIDP.

Purpose of the Study:

  • To report the first case in Taiwan of NIID presenting with initial features suggestive of CIDP.
  • To highlight the importance of considering NIID in CIDP mimics, particularly those with atypical responses to therapy.

Main Methods:

  • Case report of a 61-year-old male with subacute progressive lower extremity weakness and paresthesia.
  • Nerve conduction studies revealing demyelinating polyneuropathy with motor predominance.
  • Magnetic Resonance Imaging (MRI) findings, followed by tissue and molecular pathology for NIID confirmation.

Main Results:

  • The patient initially presented with symptoms and electrophysiological findings consistent with CIDP.
  • Immunomodulating therapy for presumed CIDP yielded limited clinical response.
  • Characteristic MRI findings and subsequent pathological confirmation led to the diagnosis of NIID.

Conclusions:

  • NIID can present clinically and electrophysiologically similar to CIDP, posing a diagnostic challenge.
  • Awareness of NIID is critical for clinicians managing suspected CIDP, especially in cases with atypical presentations or poor treatment response.
  • This case underscores the need for comprehensive diagnostic evaluation to differentiate NIID from CIDP.