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...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.展开更多
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 clinic...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.展开更多
神经元核内包涵体病(neuronal intranuclear inclusion body disease,NIID)是一种罕见的缓慢进展的可累及多系统的神经变性疾病,临床上异质性强,临床易误诊或漏诊。现报告1例经皮肤病理和基因检测明确的神经元核内包涵体病。患者,51岁,...神经元核内包涵体病(neuronal intranuclear inclusion body disease,NIID)是一种罕见的缓慢进展的可累及多系统的神经变性疾病,临床上异质性强,临床易误诊或漏诊。现报告1例经皮肤病理和基因检测明确的神经元核内包涵体病。患者,51岁,男,双上肢震颤9年余,认知下降4年,双眼视力下降4 d就诊。临床表现为帕金森病样表现、双侧瞳孔缩小、认知障碍等,头部磁共振DWI序列出现皮髓质交界区飘带征,皮肤病理活检小汗腺导管上皮及皮下脂肪组织内散在Ubiquitin及P62阳性的核内包涵体。基因检测:NOTCH2NLC中GGC重复扩增数>60。随访8个月,患者视力改善,其他症状无明显进展。该病例提示有必要提高对成人发病的神经元核内包涵体病的认识,通过影像学,皮肤活检以及NOTCH2NLC基因提高神经元核内包涵体病的诊断率。展开更多
文摘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.
基金Supported by Project of Science and Technology Department of Jilin Province,China,No.20190303181 SF.
文摘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.
