Sporadic adult-onset neuronal intranuclear inclusion disease without high-intensity signal on DWI and T2WI: a case report

• Published in: BMC neurology 2022-04, Vol.22 (1), p.150-150, Article 150
• Main Authors: Wang, Hongfen, Feng, Feng, Liu, Jiajin, Deng, Jianwen, Bai, Jiongming, Zhang, Wei, Wang, Luning, Xu, Baixuan, Huang, Xusheng
• Format: Article
• Language: English
• Subjects: Adult; Antipsychotics; Atrophy; Atrophy - pathology; Basal ganglia; Biopsy; Case Report; Central nervous system diseases; Child, Preschool; Degeneration; Dementia; Diagnosis; Diffusion-weighted imaging; Emotional behavior; Fecal incontinence; Female; Glucose; Humans; Immunoreactivity; Inclusion bodies; Intranuclear Inclusion Bodies - pathology; Leukocytes (eosinophilic); Limbs; Magnetic Resonance Imaging; Medical treatment; Mental disorders; Metabolism; Methods; Middle Aged; Movement disorders; Nervous system; Neurodegenerative diseases; Neurodegenerative Diseases - genetics; Neuroimaging; Neuronal intranuclear inclusion disease; NOTCH2NLC gene; Parkinsons disease; Patients; Positron emission tomography; Putamen; Skin; Skin biopsy; Tomography; Tremor
• ISSN: 1471-2377; 1471-2377
• DOI: 10.1186/s12883-022-02673-7

Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in cells in the central and peripheral nervous system. High-intensity signal in the corticomedullary junction on diffusion-weighted imaging (DWI) is supportive to the diagnosis of NIID. We describe a patient with sporadic adult-onset NIID but without any high-intensity signal on DWI and T2-weighted imaging (T2WI). A 58-year-old woman without special family history developed mild persistent tremor in the right hand and deteriorated 2 years later. At 60 years of age, the patient began to conceive the bank, police and internet being deceptive, further presented apathy and confusion after two and a half years, as well as fabrication of non-existent things. Despite the treatment of antipsychotic drugs due to a diagnosis of mental disorder, the patient appeared weakness in the right limbs. Neurological examination revealed mutism, resting tremor, cogwheel-like rigidity in upper limbs, and weakness in all limbs. Brain magnetic resonance imaging displayed no cerebral atrophy initially but atrophy of frontal, temporal and parietal lobes 5 years later. No any high-intensity signal on DWI and T2WI was revealed. However, hypometabolism in the cortexes with atrophy and the right putamen nucleus were showed on F-fluoro-deoxy-glucose positron emission tomography/magnetic resonance. On the basis of 107 GGC repeats (normal number