Tags

Type your tag names separated by a space and hit enter

Sporadic adult-onset neuronal intranuclear inclusion disease without high-intensity signal on DWI and T2WI: a case report.
BMC Neurol. 2022 Apr 22; 22(1):150.BN

Abstract

BACKGROUND

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).

CASE PRESENTATION

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 18F-fluoro-deoxy-glucose positron emission tomography/magnetic resonance. On the basis of 107 GGC repeats (normal number <40) in NOTCH2NLC gene and intranuclear inclusions with p62 immunoreactivity in the adipocyte of cutaneous sweat duct by skin biopsy, NIID was finally diagnosed. The symptomatic treatment was given but the patient had no evident improvement.

CONCLUSIONS

Our case highlights that despite the lack of high-intensity signal on DWI and T2WI, NIID is still considered for patients with parkinsonism and mental impairment.

Links

PMC Free PDF

Authors+Show Affiliations

Wang H
Department of Neurology, First Medical Center, Chinese PLA General Hospital, Beijing, China.
Feng F
Department of Neurology, First Medical Center, Chinese PLA General Hospital, Beijing, China. Department of Neurology, PLA Rocket Force Characteristic Medical Center, Beijing, China.
Liu J
Department of Nuclear Medicine, First Medical Center, Chinese PLA General Hospital, Beijing, China.
Deng J
Department of Neurology, Peking University First Hospital, Beijing, China. Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China.
Bai J
Department of Neurology, First Medical Center, Chinese PLA General Hospital, Beijing, China.
Zhang W
Department of Neurology, Peking University First Hospital, Beijing, China. Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China.
Wang L
Department of Neurology, Second Medical Center, Chinese PLA General Hospital, Beijing, China.
Xu B
Department of Nuclear Medicine, First Medical Center, Chinese PLA General Hospital, Beijing, China. xbx301@163.com.
Huang X
Department of Neurology, First Medical Center, Chinese PLA General Hospital, Beijing, China. lewish301@sina.com.

MeSH

AdultAtrophyChild, PreschoolFemaleHumansIntranuclear Inclusion BodiesMagnetic Resonance ImagingMiddle AgedNeurodegenerative DiseasesTremor

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

35459160

Citation

Wang, Hongfen, et al. "Sporadic Adult-onset Neuronal Intranuclear Inclusion Disease Without High-intensity Signal On DWI and T2WI: a Case Report." BMC Neurology, vol. 22, no. 1, 2022, p. 150.
Wang H, Feng F, Liu J, et al. Sporadic adult-onset neuronal intranuclear inclusion disease without high-intensity signal on DWI and T2WI: a case report. BMC Neurol. 2022;22(1):150.
Wang, H., Feng, F., Liu, J., Deng, J., Bai, J., Zhang, W., Wang, L., Xu, B., & Huang, X. (2022). Sporadic adult-onset neuronal intranuclear inclusion disease without high-intensity signal on DWI and T2WI: a case report. BMC Neurology, 22(1), 150. https://doi.org/10.1186/s12883-022-02673-7
Wang H, et al. Sporadic Adult-onset Neuronal Intranuclear Inclusion Disease Without High-intensity Signal On DWI and T2WI: a Case Report. BMC Neurol. 2022 Apr 22;22(1):150. PubMed PMID: 35459160.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Sporadic adult-onset neuronal intranuclear inclusion disease without high-intensity signal on DWI and T2WI: a case report. AU - Wang,Hongfen, AU - Feng,Feng, AU - Liu,Jiajin, AU - Deng,Jianwen, AU - Bai,Jiongming, AU - Zhang,Wei, AU - Wang,Luning, AU - Xu,Baixuan, AU - Huang,Xusheng, Y1 - 2022/04/22/ PY - 2021/10/16/received PY - 2022/04/12/accepted PY - 2022/4/23/entrez PY - 2022/4/24/pubmed PY - 2022/4/27/medline KW - Case report KW - Diffusion-weighted imaging KW - NOTCH2NLC gene KW - Neuronal intranuclear inclusion disease KW - Skin biopsy SP - 150 EP - 150 JF - BMC neurology JO - BMC Neurol VL - 22 IS - 1 N2 - BACKGROUND: 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). CASE PRESENTATION: 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 18F-fluoro-deoxy-glucose positron emission tomography/magnetic resonance. On the basis of 107 GGC repeats (normal number <40) in NOTCH2NLC gene and intranuclear inclusions with p62 immunoreactivity in the adipocyte of cutaneous sweat duct by skin biopsy, NIID was finally diagnosed. The symptomatic treatment was given but the patient had no evident improvement. CONCLUSIONS: Our case highlights that despite the lack of high-intensity signal on DWI and T2WI, NIID is still considered for patients with parkinsonism and mental impairment. SN - 1471-2377 UR - https://www.unboundmedicine.com/medline/citation/35459160/Sporadic_adult_onset_neuronal_intranuclear_inclusion_disease_without_high_intensity_signal_on_DWI_and_T2WI:_a_case_report_ DB - PRIME DP - Unbound Medicine ER -