Typical imaging manifestation of neuronal intranuclear inclusion disease in a man with unsteady gait: A case report

BACKGROUND: Neuronal intranuclear inclusion disease (NIID) is a rare neurological degenerative disorder with diverse manifestations and inadequate awareness. Only a few cases of NIID have been reported, and typical imaging findings can provide certain clues for the diagnosis of the disease. Furthermore, skin biopsy and genetic testing are important to confirm the diagnosis. CASE SUMMARY: An 84-year-old man presented to the Neurology Department of our hospital complaining of a progressive course of cognitive impairment and unsteady gait for 2 years. The symptoms gradually progressed and affected his daily life. The patient was initially diagnosed with Parkinson’s disease and vascular dementia. The patient did not respond to conventional treatment, such as dopasehydrazine. Therefore, magnetic resonance imaging (MRI) was performed. Based on the imaging findings, we suspected an NIID diagnosis. During the 3-year follow-up in our hospital, his clinical symptoms gradually progressed, and imaging findings became more significant. A high signal intensity along the corticomedullary junction persisted on MRI. Gene testing and skin biopsy were recommended in our hospital; however, the patient refused these procedures. NIID was also considered when he went to a superior hospital in Shanghai. The patient eventually agreed to undergo gene testing. This revealed abnormal GGC repeat expansions in the NOTCH2NLC gene. CONCLUSION: The clinical manifestations of NIID are diverse. Patients with clinical manifestations similar to Parkinson’s disease and dementia may have NIID.