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.

Neuronal intranuclear inclusion disease mimicking acute cerebellitis:A case report

BACKGROUND Neuronal intranuclear inclusion disease(NIID)is an unusual autosomal dominant,chronic progressive neurodegenerative disease.The clinical manifestations of NIID are complex and varied,complicating its clinical diagnosis.To the best of our knowledge,this report is the first to document sporadic adult-onset NIID mimicking acute cerebellitis(AC)that was finally diagnosed by imaging studies,skin biopsy,and genetic testing.CASE SUMMARY A 63-year-old man presented with fever,gait unsteadiness,dysarthria,and an episode of convulsion.His serum levels of white blood cells and C-reactive protein were significantly elevated.T2-weighted brain magnetic resonance imaging and fluid attenuation inversion recovery sequences showed bilateral high-intensity signals in the medial part of the cerebellar hemisphere beside the vermis.While we initially considered a diagnosis of AC,the patient’s symptoms improved significantly without special treatment,prompting our consideration of NIID.Diffusion-weighted imaging showed hyperintensity in the corticomedullary junction.Skin biopsy revealed eosinophilic inclusions positive for anti-p62 in epithelial sweat-gland cells.GGC repeat expansions in the Notch 2 N-terminal like C gene confirmed the diagnosis of NIID.CONCLUSION For patients with clinical manifestations mimicking AC,the possibility of underlying NIID should be considered along with prompt rigorous examinations.